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Information on EC 4.2.1.22 - cystathionine beta-synthase
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4.2.1.22 cystathionine beta-synthaseIUBMB Comments
A pyridoxal-phosphate protein. A multifunctional enzyme: catalyses beta-replacement reactions between L-serine, L-cysteine, cysteine thioethers, or some other beta-substituted alpha-L-amino acids, and a variety of mercaptans.
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Word Map
- 4.2.1.22
- h2s
- sulfide
- homocystinuria
- hyperhomocysteinemia
- artery
-
spacer
-
corticobasal
- candida
- mthfr
-
carotid
- folate
-
transsulfuration
- conidia
-
cajal
- nahs
- dextrose
- methylenetetrahydrofolate
-
bismuth
- hallucinations
-
anamorphic
- palsy
-
supranuclear
-
charles
-
remethylation
-
reisolated
-
conidiophore
-
gamma-lyase
-
biodiversity
-
hyaline
-
chemoreceptor
-
gasotransmitter
- 3-mercaptopyruvate
-
frontotemporal
- sulfurtransferase
-
thromboembolic
- ascospore
-
rinsed
-
aminooxyacetic
- apraxia
-
snrnps
-
symptomless
- hydrosulfide
- marxianus
-
visuospatial
- 5,10-methylenetetrahydrofolate
-
voxel-based
-
appressoria
- naocl
- medicine
- diagnostics
- ascus
-
phytopathological
- analysis
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria, Archaea
Synonyms
cbs, cystathionine beta-synthase, cystathionine-beta-synthase, cnnm2, cystathionine beta synthase, serine sulfhydrylase, ytcbs, serine sulfhydrase, hemoprotein h-450, cdcp2, 
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
Beta-thionase
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CBS
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Cysteine synthase
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Hemoprotein H-450
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-
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Methylcysteine synthase
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Serine sulfhydrase
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Serine sulfhydrylase
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Serine sulphhydrase
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
elimination
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C-S bond formation
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PATHWAY SOURCE
PATHWAYS
BRENDA
KEGG
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-, -, -, -
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SYSTEMATIC NAME
IUBMB Comments
L-serine hydro-lyase (adding homocysteine; L-cystathionine-forming)
A pyridoxal-phosphate protein. A multifunctional enzyme: catalyses beta-replacement reactions between L-serine, L-cysteine, cysteine thioethers, or some other beta-substituted alpha-L-amino acids, and a variety of mercaptans.
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CAS REGISTRY NUMBER
COMMENTARY
9023-99-8
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Aberrant Crypt Foci
Production of hydrogen sulfide by the intestinal microbiota and epithelial cells and consequences for the colonic and rectal mucosa.
Abortion, Spontaneous
Association Between MTHFR 1298A>C Polymorphism and Spontaneous Abortion with Fetal Chromosomal Aneuploidy.
Abscess
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Achlorhydria
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Achlorhydria
Is eradication of Helicobacter pylori with colloidal bismuth subcitrate quadruple therapy safe?
Acidosis
Inhibition of cystathionine-{beta}-synthase activity during renal ischemia-reperfusion: role of pH and nitric oxide.
Acidosis
The impact of PCO2 and H+ on the release of acetylcholine from the cat carotid body.
Acidosis
The role of carotid bodies in the generation of active inspiratory and expiratory responses to exercise in rats.
Acidosis
Toward understanding the causes of blood pH irregularities and the roles of newly described binuclear neurons of carotid bodies on blood pH regulation during subarachnoid hemorrhage: Experimental study.
Acquired Immunodeficiency Syndrome
Photographic essay. Anterior segment optical coherence tomography findings of early capsular block syndrome.
Acquired Immunodeficiency Syndrome
Status of HIV Case-Based Surveillance Implementation - 39 U.S. PEPFAR-Supported Countries, May-July 2019.
Acquired Immunodeficiency Syndrome
Vitamin B-6 deficiency suppresses the hepatic transsulfuration pathway but increases glutathione concentration in rats fed AIN-76A or AIN-93G diets.
Acute Kidney Injury
Fanconi's syndrome, acute renal failure, and tonsil ulcerations after colloidal bismuth subcitrate intoxication.
Adenocarcinoma
Appreciation of Pattern in Diagnosis of Lung Adenocarcinoma from Cytology Specimen: Our Experience with Fine Needle Aspiration Cytology and Cell Block in a Resource Constraint Setup.
Adenocarcinoma
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Adenocarcinoma
DNA hypomethylation of CBS promoter induced by folate deficiency is a potential noninvasive circulating biomarker for colorectal adenocarcinomas.
Adenocarcinoma
Evaluation of cell blocks from effusion specimens in Gynecologic Oncopathology: An experience of 220 cases, diagnosed at a Tertiary Cancer Referral Center.
Adenocarcinoma
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Adenocarcinoma
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Adenocarcinoma
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Adenocarcinoma
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Adenocarcinoma
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Adenocarcinoma of Lung
PDK2 induces Cisplatin-resistance in lung adenocarcinoma via transcriptional regulation of CNNM3.
Adenomatous Polyps
Upregulation of Cystathionine-?-synthase in Colonic Epithelia Reprograms Metabolism and Promotes Carcinogenesis.
Adrenoleukodystrophy
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.
Adrenoleukodystrophy
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Adrenoleukodystrophy
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Agnosia
Effect of Prism Adaptation Therapy on the Activities of Daily Living and Awareness for Spatial Neglect: A Secondary Analysis of the Randomized, Controlled Trial.
Agraphia
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Alice in Wonderland Syndrome
What associates Charles Bonnet syndrome with age-related macular degeneration?
Alkalosis
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
Alopecia
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Alopecia
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
Alveolitis, Extrinsic Allergic
Morphologic Features of Fibrotic Hypersensitivity Pneumonitis in Transbronchial Cryobiopsies Versus Video-Assisted Thoracoscopic Biopsies: An In Silico Study.
Alzheimer Disease
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Alzheimer Disease
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Alzheimer Disease
Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease.
Alzheimer Disease
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Alzheimer Disease
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Alzheimer Disease
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Alzheimer Disease
Dual-Phase ?-Amyloid PET Captures Neuronal Injury and Amyloidosis in Corticobasal Syndrome.
Alzheimer Disease
Early stage memory impairment, visual hallucinations, and myoclonus combined with temporal lobe atrophy predict Alzheimer's disease pathology in corticobasal syndrome.
Alzheimer Disease
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Alzheimer Disease
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Alzheimer Disease
Lateralized Cortical Involvement and Contralateral Parkinsonism without Basal Ganglia Involvement in Two Autopsy Cases of Corticobasal Syndrome-Alzheimer's Disease.
Alzheimer Disease
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Alzheimer Disease
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Alzheimer Disease
Predicting amyloid status in corticobasal syndrome using modified clinical criteria, magnetic resonance imaging and fluorodeoxyglucose positron emission tomography.
Alzheimer Disease
Relationship of homocysteine and gene polymorphisms of its related metabolic enzymes with Alzheimer's disease.
Alzheimer Disease
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Alzheimer Disease
Tau Imaging in the 4-Repeat-Tauopathies Progressive Supranuclear Palsy and Corticobasal Syndrome: A 11C-Pyridinyl-Butadienyl-Benzothiazole 3 PET Pilot Study.
Alzheimer Disease
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
Alzheimer Disease
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Alzheimer Disease
[The diagnostic challenge of corticobasal degeneration: distinction between clinical syndrome and pathology].
Amblyopia
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Amnesia
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Amyloidosis
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers.
Amyloidosis
Hyperhomocysteinemic Alzheimer's mouse model of amyloidosis shows increased brain amyloid beta peptide levels.
Amyotrophic Lateral Sclerosis
Mutation analysis of C9orf72 in patients with corticobasal syndrome.
Anemia, Megaloblastic
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
Anemia, Sickle Cell
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease.
Anencephaly
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Aneurysm, False
Polytetrafluoroethylene-covered nitinol stent graft for treatment of carotid artery blowout syndrome in head and neck cancer patients.
Aneurysm, False
Risk factors of recurrent carotid blowout syndrome and strategy of endovascular management.
Angina Pectoris
[Different methods of myocardial revascularization in non-stable stenocardia]
Angina, Stable
A perspective on the three large multicenter randomized clinical trials of coronary bypass surgery for chronic stable angina.
Aortic Valve Stenosis
Prophylactic aortic valve replacement in older patients for mild aortic stenosis during coronary bypass surgery.
Aphasia
Language Disorder in Progressive Supranuclear Palsy and Corticobasal Syndrome: Neural Correlates and Detection by the MLSE Screening Tool.
Aphasia
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Aphasia
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Aphasia, Primary Progressive
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Aphasia, Primary Progressive
Diagnoses of corticobasal syndrome and corticobasal degeneration.
Aphasia, Primary Progressive
Language impairment in progressive supranuclear palsy and corticobasal syndrome.
Aphasia, Primary Progressive
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Aphasia, Primary Progressive
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
Apnea
Contribution of the Retrotrapezoid Nucleus and Carotid Bodies to Hypercapnia- and Hypoxia-induced Arousal from Sleep.
Apraxia, Ideomotor
Apraxia in anti-glutamic acid decarboxylase-associated stiff person syndrome: link to corticobasal degeneration?
Apraxia, Ideomotor
Left parietal cortex transcranial direct current stimulation enhances gesture processing in corticobasal syndrome.
Apraxias
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Apraxias
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
Apraxias
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Apraxias
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
Apraxias
Left parietal cortex transcranial direct current stimulation enhances gesture processing in corticobasal syndrome.
Apraxias
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Apraxias
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Arrhythmias, Cardiac
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Arterial Occlusive Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
Arterial Occlusive Diseases
A common 844INS68 insertion variant in the cystathionine beta-synthase gene.
Arterial Occlusive Diseases
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.
Arterial Occlusive Diseases
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.
Arteriosclerosis
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Arteriosclerosis
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
Arthralgia
Bone Scintigraphy in the Diagnosis of Rheumatoid Arthritis: Is There Additional Value of Bone Scintigraphy with Blood Pool Phase over Conventional Bone Scintigraphy?
Arthritis
Bone Scintigraphy in the Diagnosis of Rheumatoid Arthritis: Is There Additional Value of Bone Scintigraphy with Blood Pool Phase over Conventional Bone Scintigraphy?
Ascariasis
The influence of ethnicity, an atopic family history, and maternal ascariasis on cord blood serum IgE concentrations.
Asthma
[Regulative mechanism of budesonide on endogenous hydrogen sulfide, cystathionine-gamma-lyase and cystathionine-beta-synthase system in asthmatic rats].
Ataxia
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Ataxia Telangiectasia
DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
Atherosclerosis
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Atherosclerosis
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Atherosclerosis
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Atherosclerosis
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Atherosclerosis
Carotid body modulation in systolic heart failure in the clinical perspective.
Atherosclerosis
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Atherosclerosis
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
Atherosclerosis
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Atherosclerosis
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Atherosclerosis
Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation.
Atherosclerosis
Hyperhomocysteinemia Potentiates Hyperglycemia-induced Inflammatory Monocyte Differentiation and Atherosclerosis.
Atherosclerosis
Interleukin-3/Granulocyte Macrophage Colony-Stimulating Factor Receptor Promotes Stem Cell Expansion, Monocytosis, and Atheroma Macrophage Burden in Mice With Hematopoietic ApoE Deficiency.
Atherosclerosis
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Atherosclerosis
Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.
Atherosclerosis
Mechanisms of thrombogenesis and accelerated atherogenesis in homocysteinaemia.
Atherosclerosis
Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype.
Atherosclerosis
Thiol compounds metabolism in mice, rats and humans: Comparative study and potential explanation of rodents protection against vascular diseases.
Atherosclerosis
[Tissue distribution of cystathionine beta-synthase and its changes during the development of atherosclerosis in rats].
Atrial Fibrillation
Anatomic Parameters Predicting Procedural Difficulty and Balloon Temperature Predicting Successful Applications in Individual Pulmonary Veins During 28-mm Second-Generation Cryoballoon Ablation.
Atrial Fibrillation
Pressure-guided second-generation cryoballoon pulmonary vein isolation: Prospective comparison of the procedural and clinical outcomes with the conventional strategy.
Atypical Squamous Cells of the Cervix
Cell Block Preparation versus Liquid-Based Thin-Layer Cervical Cytology: A Comparative Study Evaluating Human Papillomavirus Testing by Hybrid Capture-2/Cervista, in situ Hybridization and p16 Immunohistochemistry.
Atypical Squamous Cells of the Cervix
The utility of pap cell block preparations with liqui-PREP cell pellets to clarify the cytological diagnosis of atypical squamous cells of undetermined significance and atypical glandular cells.
Autoimmune Diseases
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.
Bacterial Infections
[Animal experiment and cell biology study of Saccharomyces cerevisiae Hansen CBS 5926 in the non-specific enhancement of resistance to infection]
Bone Diseases
Computerized bone scan. A potentially useful technique to measure response in prostatic carcinoma.
Bone Diseases
Unique gating properties of C. elegans ClC anion channel splice variants are determined by altered CBS domain conformation and the R-helix linker.
Bone Resorption
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Bradycardia
The cardiovascular effects of central hydrogen sulphide are related to K(ATP) channels activation.
Brain Diseases
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Brain Diseases
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Brain Diseases
Dyrk1A, a Serine/Threonine Kinase, is Involved in ERK and Akt Activation in the Brain of Hyperhomocysteinemic Mice.
Brain Edema
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Brain Edema
Exogenous Hydrogen Sulfide Offers Neuroprotection on Intracerebral Hemorrhage Injury Through Modulating Endogenous H2S Metabolism in Mice.
Brain Edema
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Brain Infarction
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Brain Infarction
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Brain Injuries
Dynamic change of hydrogen sulfide after traumatic brain injury and its effect in mice.
Brain Injuries
Neuroprotective Effects of Early Brain Injury after Subarachnoid Hemorrhage in Rats by Calcium Channel Mediating Hydrogen Sulfide.
Brain Injuries
Upregulation of cystathione ?-synthase and p70S6K/S6 in neonatal hypoxic ischemic brain injury.
Brain Injuries, Traumatic
The Expression Changes of Cystathionine-?-synthase in Brain Cortex After Traumatic Brain Injury.
Brain Ischemia
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Brain Ischemia
Crystal Structures of Cystathionine ?-Synthase from Saccharomyces cerevisiae: One Enzymatic Step at a Time.
Brain Ischemia
Dynamic change of hydrogen sulfide during global cerebral ischemia-reperfusion and its effect in rats.
Brain Ischemia
Gain-of-function polymorphisms of cystathionine ?-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Brain Ischemia
Hydrogen-rich saline ameliorates hippocampal neuron apoptosis through up-regulating the expression of cystathionine ?-synthase (CBS) after cerebral ischemia- reperfusion in rats.
Brain Ischemia
[Evaluation of cerebral blood flow in severe brain injuries by SVO2 measurement in the internal jugular vein]
Brain Neoplasms
On the effects of CP 55-940 and other cannabinoid receptor agonists in C6 and U373 cell lines.
Brain Neoplasms
What associates Charles Bonnet syndrome with age-related macular degeneration?
Brain Stem Infarctions
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Breast Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Breast Neoplasms
Attenuation of Antioxidant Capacity in Human Breast Cancer Cells by Carbon Monoxide through Inhibition of Cystathionine ?-Synthase Activity: Implications in Chemotherapeutic Drug Sensitivity.
Breast Neoplasms
Bioinformatics Analysis Identifies IL6ST as a Potential Tumor Suppressor Gene for Triple-Negative Breast Cancer.
Breast Neoplasms
Bright-field HER2 dual in situ hybridization (DISH) assay on breast cancer cell blocks: a comparative study with histological sections.
Breast Neoplasms
Comparison of gene expression profiles in core biopsies and corresponding surgical breast cancer samples.
Breast Neoplasms
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Breast Neoplasms
ER, PR, and Her2 immunocytochemistry on cell-transferred cytologic smears of primary and metastatic breast carcinomas: A Comparison Study With Formalin-Fixed Cell Blocks and Surgical Biopsies.
Breast Neoplasms
Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses.
Breast Neoplasms
HER 2 immunohistochemistry for breast cancer cell blocks can be used in the same way as that used for histological specimens.
Breast Neoplasms
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Breast Neoplasms
Impact of intraoperative radiotherapy on cosmetic outcome and complications after oncoplastic breast surgery.
Breast Neoplasms
Oncologic Outcome of Endoscopic Assisted Breast Surgery Compared with Conventional Approach in Breast Cancer: An Analysis of 3426 Primary Operable Breast Cancer Patients from Single Institute with and Without Propensity Score Matching.
Breast Neoplasms
Plasma homocysteine levels and genetic polymorphisms in folate metablism are associated with breast cancer risk in chinese women.
Breast Neoplasms
Polymorphisms in the folate-metabolizing genes MTR, MTRR, and CBS and breast cancer risk.
Breast Neoplasms
Quantitative measurement of HER2 expression in breast cancers: comparison with 'real-world' routine HER2 testing in a multicenter Collaborative Biomarker Study and correlation with overall survival.
Breast Neoplasms
The association between the 844ins68 polymorphism in the CBS gene and breast cancer.
Breast Neoplasms
[Connected bras for breast cancer detection in 2021: Analysis and perspectives].
Bronchiolitis
Observational study of newborn infant parasympathetic evaluation as a comfort system in awake patients admitted to a pediatric intensive care unit.
Bronchopneumonia
Mortality of the aged with chronic brain syndrome: further observations in a five-year study.
Carcinogenesis
Identification of novel cellular targets in biliary tract cancers using global gene expression technology.
Carcinogenesis
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Carcinogenesis
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Carcinogenesis
Production of hydrogen sulfide by the intestinal microbiota and epithelial cells and consequences for the colonic and rectal mucosa.
Carcinogenesis
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Carcinoid Tumor
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Carcinoid Tumor
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Carcinoid Tumor
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma
Autocrine transforming growth factor alpha provides a growth advantage to malignant cells by facilitating re-entry into the cell cycle from suboptimal growth states.
Carcinoma
Autocrine transforming growth factor-beta (TGF beta) modulates the 120 kD and 105 kD retinoblastoma (RB) protein species in CBS colon carcinoma cells as revealed by an anti-sense TGF beta 1 expression vector.
Carcinoma
Autocrine transforming growth factor-beta 1 and beta 2 expression is increased by cell crowding and quiescence in colon carcinoma cells.
Carcinoma
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Carcinoma
Calcium sensing receptor in human colon carcinoma: interaction with Ca(2+) and 1,25-dihydroxyvitamin D(3).
Carcinoma
Cell mediated cytotoxicity of human colon carcinoma cells by a monoclonal antibody (R4) recognizing the carcinoembryonic antigen (CEA) and CEA-related molecules.
Carcinoma
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Carcinoma
Computerized bone scan. A potentially useful technique to measure response in prostatic carcinoma.
Carcinoma
Core biopsies of renal tumors: a study on diagnostic accuracy, interobserver, and intraobserver variability.
Carcinoma
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Carcinoma
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Carcinoma
Effects of potential calcium sensing receptor inducers on promoting chemosensitivity of human colon carcinoma cells.
Carcinoma
Evidence for autocrine growth stimulation of cultured colon tumor cells by a gastrin/cholecystokinin-like peptide.
Carcinoma
Expression of TGFalpha autocrine activity in human colon carcinoma CBS cells is autoregulated and independent of exogenous epidermal growth factor.
Carcinoma
Identification of endogenous inhibitory growth factors from a human colon carcinoma cell line.
Carcinoma
Indirect immunofluorescence studies of proliferating cell nuclear antigen in nucleoli of human tumor and normal tissues.
Carcinoma
Induction of calcium sensing receptor in human colon cancer cells by calcium, vitamin D and aquamin: Promotion of a more differentiated, less malignant and indolent phenotype.
Carcinoma
Inhibition of CRIPTO expression and tumorigenicity in human colon cancer cells by antisense RNA and oligodeoxynucleotides.
Carcinoma
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Carcinoma
Isolation and characterization of calcium sensing receptor null cells: a highly malignant and drug resistant phenotype of colon cancer.
Carcinoma
Macrophage colony-stimulating factor enhancement of antibody-dependent cellular cytotoxicity against human colon carcinoma cells.
Carcinoma
Methyl group metabolism gene polymorphisms and susceptibility to prostatic carcinoma.
Carcinoma
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Carcinoma
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
Carcinoma
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Carcinoma
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Carcinoma
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Carcinoma
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Carcinoma
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
Carcinoma
Regulation of E-cadherin and beta-catenin by Ca2+ in colon carcinoma is dependent on calcium-sensing receptor expression and function.
Carcinoma
Repression of autocrine transforming growth factor beta 1 and beta 2 in quiescent CBS colon carcinoma cells leads to progression of tumorigenic properties.
Carcinoma
Switch of transforming growth factor beta function from tumor suppression to stimulation in adenomatous polyposis coli (APC) knocked-down human colon carcinoma cells.
Carcinoma
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
Carcinoma
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
Carcinoma
Transduction and expression of the human carcinoembryonic antigen gene in a murine colon carcinoma cell line.
Carcinoma
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Ductal
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Carcinoma, Ductal
Folate Receptor Alpha Immunohistochemistry in Cytology Specimens of Metastatic Breast Carcinoma.
Carcinoma, Ductal
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Carcinoma, Embryonal
Effects of cannabinoids and related fatty acids upon the viability of P19 embryonal carcinoma cells.
Carcinoma, Hepatocellular
A pharmacological probe identifies cystathionine ?-synthase as a new negative regulator for ferroptosis.
Carcinoma, Hepatocellular
Antioxidant activity of tartary (Fagopyrum tataricum (L.) Gaertn.) and common (Fagopyrum esculentum moench) buckwheat sprouts.
Carcinoma, Hepatocellular
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Carcinoma, Hepatocellular
Exogenous hydrogen sulfide exerts proliferation/anti-apoptosis/angiogenesis/migration effects via amplifying the activation of NF-?B pathway in PLC/PRF/5 hepatoma cells.
Carcinoma, Hepatocellular
Expression of cystathionine beta-synthase is downregulated in hepatocellular carcinoma and associated with poor prognosis.
Carcinoma, Hepatocellular
Hepatic Methionine Homeostasis Is Conserved in C57BL/6N Mice on High-Fat Diet Despite Major Changes in Hepatic One-Carbon Metabolism.
Carcinoma, Hepatocellular
Hormonal regulation of cystathionine beta-synthase expression in liver.
Carcinoma, Hepatocellular
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma.
Carcinoma, Hepatocellular
Role of the cystathionine ?-synthase/H2S system in liver cancer cells and the inhibitory effect of quinolone-indolone conjugate QIC2 on the system.
Carcinoma, Hepatocellular
S-adenosylmethionine stabilizes cystathionine beta-synthase and modulates redox capacity.
Carcinoma, Hepatocellular
The Sulfur Metabolite Lanthionine: Evidence for a Role as a Novel Uremic Toxin.
Carcinoma, Intraductal, Noninfiltrating
Ductal carcinoma in situ in core biopsies containing invasive breast cancer: correlation with extensive intraductal component and lumpectomy margins.
Carcinoma, Large Cell
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Carcinoma, Large Cell
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma, Neuroendocrine
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Carcinoma, Neuroendocrine
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Carcinoma, Neuroendocrine
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma, Non-Small-Cell Lung
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
Carcinoma, Papillary
Papillary Lesions of the Breast: Impact of Breast Pathology Subspecialization on Core Biopsy and Excision Diagnoses.
Carcinoma, Renal Cell
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Carcinoma, Renal Cell
Core biopsies of renal tumors: a study on diagnostic accuracy, interobserver, and intraobserver variability.
Carcinoma, Small Cell
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Squamous Cell
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Carcinoma, Squamous Cell
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Carcinoma, Squamous Cell
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Carcinoma, Squamous Cell
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
Carcinoma, Squamous Cell
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
Carcinoma, Squamous Cell
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Carcinoma, Squamous Cell
Tumor Cell Representation by an Improvised Technique of Fine-Needle Aspiration Specimen Acquisition and Cell Block Preparation: Our Experience in Lung Cancer Cases in a Peripheral Center of Eastern India.
Carcinoma, Transitional Cell
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Cardiomegaly
Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.
Cardiomyopathy, Hypertrophic
CBS domains: structure, function, and pathology in human proteins.
Cardiovascular Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
Cardiovascular Diseases
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.
Cardiovascular Diseases
Association of Methylenetetrahydrofolate Reductase C677T and Cystathionine β-Synthase Polymorphisms in Cardiovascular Disease in the Algerian Population.
Cardiovascular Diseases
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.
Cardiovascular Diseases
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Cardiovascular Diseases
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Cardiovascular Diseases
Hydrogen sulfide generation in mammals: the molecular biology of cystathionine-?- synthase (CBS) and cystathionine-?-lyase (CSE).
Cardiovascular Diseases
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Cardiovascular Diseases
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Cardiovascular Diseases
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Cardiovascular Diseases
Novel risk factors for vascular disease: the homocysteine hypothesis of cardiovascular disease.
Cardiovascular Diseases
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Cardiovascular Diseases
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Cardiovascular Diseases
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
Cardiovascular Diseases
Variations in the transcriptome of Alzheimer's disease reveal molecular networks involved in cardiovascular diseases.
Carotid Artery Diseases
Carotid bifurcation position and branching angle in patients with atherosclerotic carotid disease.
Carotid Artery, Internal, Dissection
Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency.
Cataract
Anterior capsule phimosis and capsular block syndrome in a patient with Steinert myotonic dystrophy: a case report.
Cataract
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Cataract
Capsular block syndrome after cataract surgery: clinical analysis and classification.
Cataract
Capsular block syndrome associated with femtosecond laser-assisted cataract surgery.
Cataract
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Cataract
The safety and efficacy of phaco-sleeve irrigation-assisted hydrodissection during femtosecond laser-assisted cataract surgery.
Celiac Disease
Immunoglobulin G responses to Malassezia pachydermatis in healthy dogs and dogs with Malassezia dermatitis.
Cerebral Cortical Thinning
Gray and white matter structural changes in corticobasal syndrome.
Cerebral Cortical Thinning
Integrated 18F-T807 Tau PET, Structural MRI, and Plasma Tau in Tauopathy Neurodegenerative Disorders.
Cerebral Infarction
The values of AHCY and CBS promoter methylation on the diagnosis of cerebral infarction in Chinese Han population.
Cerebrovascular Disorders
Hyperhomocysteinemia in movement disorders: Current evidence and hypotheses.
Cerebrovascular Disorders
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
Cerebrovascular Disorders
[Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases]
Cerebrovascular Disorders
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Charles Bonnet Syndrome
Charles Bonnet syndrome and visual acuity--the involvement of dynamic or acute sensory deprivation.
Charles Bonnet Syndrome
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Charles Bonnet Syndrome
The prevalence and clinical characteristics of Charles Bonnet syndrome in Chinese patients.
Charles Bonnet Syndrome
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Cholangiocarcinoma
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Cholera
Evaluation of community based surveillance in the Rohingya refugee camps in Cox's Bazar, Bangladesh, 2019.
Cholestasis
Beneficial effect of Calculus Bovis Sativus on 17?-ethynylestradiol-induced cholestasis in the rat.
Cholestasis
Calculus Bovis Sativus Improves Bile Acid Homeostasis via Farnesoid X Receptor-Mediated Signaling in Rats With Estrogen-Induced Cholestasis.
Cholestasis
Calculus Bovis Sativus up-regulates hepatic protein 2 (Mrp2) and Mrp4 in 17?-ethynylestradiol-induced cholestasis via a regulatory effect on ER signaling.
Cholestasis, Intrahepatic
Upregulation of PDZK1 by Calculus Bovis Sativus May Play an Important Role in Restoring Biliary Transport Function in Intrahepatic Cholestasis.
Chromoblastomycosis
Draft Genome Sequence of Fonsecaea monophora Strain CBS 269.37, an Agent of Human Chromoblastomycosis.
Chromoblastomycosis
Draft Genome Sequence of Fonsecaea nubica Strain CBS 269.64, Causative Agent of Human Chromoblastomycosis.
Cleft Lip
A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate.
Cleft Lip
CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Lip
Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.
Cleft Lip
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
Cleft Lip
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
Cleft Palate
CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Palate
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
Cleft Palate
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
Colitis
Performance of behavioral assays: the Rat Grimace Scale, burrowing activity and a composite behavior score to identify visceral pain in an acute and chronic colitis model.
Colitis
Therapeutic effect of colloid bismuth subcitrate in experimental colitis in the rat.
Colitis, Ulcerative
Protective Effect of Calculus Bovis Sativus on Dextran Sulphate Sodium-Induced Ulcerative Colitis in Mice.
Colonic Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Colonic Neoplasms
Aminooxyacetic acid (AOAA) sensitizes colon cancer cells to oxaliplatin via exaggerating apoptosis induced by ROS.
Colonic Neoplasms
Antitumor effect of sikokianin C, a selective cystathionine ?-synthase inhibitor, against human colon cancer in vitro and in vivo.
Colonic Neoplasms
Cystathionine-beta-synthase inhibition for colon cancer: Enhancement of the efficacy of aminooxyacetic acid via the prodrug approach.
Colonic Neoplasms
Effect of S-adenosyl-l-methionine (SAM), an allosteric activator of cystathionine-?-synthase (CBS) on colorectal cancer cell proliferation and bioenergetics in vitro.
Colonic Neoplasms
Efficacy of Novel Aminooxyacetic Acid Prodrugs in Colon Cancer Models: Towards Clinical Translation of the Cystathionine ?-Synthase Inhibition Concept.
Colonic Neoplasms
Heterogeneity of receptor function in colon carcinoma cells determined by cross-talk between type I insulin-like growth factor receptor and epidermal growth factor receptor.
Colonic Neoplasms
Inhibition of CRIPTO expression and tumorigenicity in human colon cancer cells by antisense RNA and oligodeoxynucleotides.
Colonic Neoplasms
Invasion of extracellular matrix by cultured colon cancer cells: dependence on urokinase receptor display.
Colonic Neoplasms
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Colonic Neoplasms
Methotrexate induced differentiation in colon cancer cells is primarily due to purine deprivation.
Colonic Neoplasms
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part I. Biochemical and Physiological Mechanisms.
Colonic Neoplasms
Screening of a composite library of clinically used drugs and well-characterized pharmacological compounds for cystathionine ?-synthase inhibition identifies benserazide as a drug potentially suitable for repurposing for the experimental therapy of colon cancer.
Colonic Neoplasms
The gastrointestinal tract - a central organ of cannabinoid signaling in health and disease.
Colonic Neoplasms
The role of transforming growth factor-beta in suppression of hepatic metastasis from colon cancer.
Colonic Neoplasms
Transforming growth factor-ß suppresses metastasis in a subset of human colon carcinoma cells.
Colonic Neoplasms
Tumor-derived hydrogen sulfide, produced by cystathionine-?-synthase, stimulates bioenergetics, cell proliferation, and angiogenesis in colon cancer.
Colonic Pseudo-Obstruction
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
Colorectal Neoplasms
Aminooxyacetic acid (AOAA) sensitizes colon cancer cells to oxaliplatin via exaggerating apoptosis induced by ROS.
Colorectal Neoplasms
B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).
Colorectal Neoplasms
Cannabinoid receptor-independent cytotoxic effects of cannabinoids in human colorectal carcinoma cells: synergism with 5-fluorouracil.
Colorectal Neoplasms
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Colorectal Neoplasms
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Colorectal Neoplasms
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part II. Pathophysiological and Therapeutic Aspects.
Colorectal Neoplasms
Upregulation of Cystathionine-?-synthase in Colonic Epithelia Reprograms Metabolism and Promotes Carcinogenesis.
Colorectal Neoplasms
[Correlation of methylation of CpG island in cystathionine beta synthase promoter and clinicopathological features in colorectal cancer].
Communicable Diseases
Investigating potential associations between chronic exposure to polychlorinated biphenyls and infectious disease mortality in harbour porpoises from England and Wales.
Community-Acquired Infections
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Congenital Abnormalities
Cannabinoids Exacerbate Alcohol Teratogenesis by a CB1-Hedgehog Interaction.
Corneal Injuries
Blood derived treatment from two allogeneic sources for severe dry eye associated to keratopathy: a multicentre randomised cross over clinical trial.
Coronary Artery Disease
Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population.
Coronary Artery Disease
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Coronary Artery Disease
Genetic variation of the methylenetetrahydrofolate reductase and cystathionine beta-synthase genes in Korean patients with coronary artery disease and a new polymorphism in intron 7.
Coronary Artery Disease
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Coronary Artery Disease
Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population.
Coronary Artery Disease
Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
Coronary Artery Disease
Relationship between total plasma homocysteine, polymorphisms of homocysteine metabolism related enzymes, risk factors and coronary artery disease in the Australian hospital-based population.
Coronary Disease
Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
Coronary Stenosis
[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population]
Corticobasal Degeneration
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Corticobasal Degeneration
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.
Corticobasal Degeneration
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Corticobasal Degeneration
Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease.
Corticobasal Degeneration
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Corticobasal Degeneration
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
Corticobasal Degeneration
Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome.
Corticobasal Degeneration
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Corticobasal Degeneration
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Corticobasal Degeneration
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Corticobasal Degeneration
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Corticobasal Degeneration
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Corticobasal Degeneration
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Corticobasal Degeneration
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
Corticobasal Degeneration
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Corticobasal Degeneration
Parkinsonism in adult-onset Rasmussens's encephalitis: a clinical picture presenting as corticobasal syndrome.
Corticobasal Degeneration
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Corticobasal Degeneration
Serial 18F-FP-CIT and FDG PET in Fulminant Corticobasal Syndrome.
Corticobasal Degeneration
Synaptic Loss in Primary Tauopathies Revealed by [11 C]UCB-J Positron Emission Tomography.
Corticobasal Degeneration
Tau immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.
Corticobasal Degeneration
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
Corticobasal Degeneration
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Corticobasal Degeneration
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
COVID-19
Community-based surveillance in internally displaced people's camps and urban settings during a complex emergency in Yemen in 2020.
COVID-19
Exacerbation of visual hallucinations in Charles Bonnet syndrome due to the social implications of COVID-19.
Creutzfeldt-Jakob Syndrome
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
cystathionine beta-synthase deficiency
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
cystathionine beta-synthase deficiency
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
cystathionine beta-synthase deficiency
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
cystathionine beta-synthase deficiency
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Acute psychosis in an adolescent with undiagnosed homocystinuria.
cystathionine beta-synthase deficiency
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
cystathionine beta-synthase deficiency
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
cystathionine beta-synthase deficiency
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: Possible implications for cardiovascular outcomes.
cystathionine beta-synthase deficiency
Amplification refractory mutation system to identify mutations in cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
cystathionine beta-synthase deficiency
Analysis of the Qatari R336C cystathionine ?-synthase protein in mice.
cystathionine beta-synthase deficiency
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
cystathionine beta-synthase deficiency
Aspects of treatment of homocystinuria: an illustrative case report.
cystathionine beta-synthase deficiency
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
cystathionine beta-synthase deficiency
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
cystathionine beta-synthase deficiency
B vitamins and homocysteine in cardiovascular disease and aging.
cystathionine beta-synthase deficiency
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
cystathionine beta-synthase deficiency
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
cystathionine beta-synthase deficiency
Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ?-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
cystathionine beta-synthase deficiency
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene.
cystathionine beta-synthase deficiency
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Cerebral edema associated with betaine treatment in classical homocystinuria.
cystathionine beta-synthase deficiency
Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment.
cystathionine beta-synthase deficiency
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.
cystathionine beta-synthase deficiency
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
cystathionine beta-synthase deficiency
Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
cystathionine beta-synthase deficiency
Classical homocystinuria: vascular risk and its prevention.
cystathionine beta-synthase deficiency
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
cystathionine beta-synthase deficiency
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
cystathionine beta-synthase deficiency
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings.
cystathionine beta-synthase deficiency
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
cystathionine beta-synthase deficiency
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
cystathionine beta-synthase deficiency
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
cystathionine beta-synthase deficiency
Cystathionine ?-synthase deficiency: Of mice and men.
cystathionine beta-synthase deficiency
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
cystathionine beta-synthase deficiency
Cystathionine ?-synthase-deficient mice thrive on a low-methionine diet.
cystathionine beta-synthase deficiency
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
cystathionine beta-synthase deficiency
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
cystathionine beta-synthase deficiency
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
cystathionine beta-synthase deficiency
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
cystathionine beta-synthase deficiency
Cystathionine beta synthase modulates senescence of human endothelial cells.
cystathionine beta-synthase deficiency
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency causes fat loss in mice.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient.
cystathionine beta-synthase deficiency
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
cystathionine beta-synthase deficiency
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
cystathionine beta-synthase deficiency
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
cystathionine beta-synthase deficiency
Cysteine biosynthesis in Saccharomyces cerevisiae: mutation that confers cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
cystathionine beta-synthase deficiency
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
cystathionine beta-synthase deficiency
Determination of l-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine ?-synthase deficiency.
cystathionine beta-synthase deficiency
Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.
cystathionine beta-synthase deficiency
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
cystathionine beta-synthase deficiency
Direct monitoring of albumin lysine-525 N-homocysteinylation in human serum by liquid chromatography/mass spectrometry.
cystathionine beta-synthase deficiency
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
cystathionine beta-synthase deficiency
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Effect of cadmium administration in hyperhomocysteinemic mice due to cystathionine beta synthase deficiency.
cystathionine beta-synthase deficiency
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
cystathionine beta-synthase deficiency
Effect of homocysteine and homocystine on platelet and vascular arachidonic acid metabolism.
cystathionine beta-synthase deficiency
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency.
cystathionine beta-synthase deficiency
Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.
cystathionine beta-synthase deficiency
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients.
cystathionine beta-synthase deficiency
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
cystathionine beta-synthase deficiency
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
cystathionine beta-synthase deficiency
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
cystathionine beta-synthase deficiency
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
cystathionine beta-synthase deficiency
Feasibility of domino liver transplantation from hyperhomocsyteinemia.
cystathionine beta-synthase deficiency
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
cystathionine beta-synthase deficiency
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
cystathionine beta-synthase deficiency
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
cystathionine beta-synthase deficiency
G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.
cystathionine beta-synthase deficiency
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
cystathionine beta-synthase deficiency
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
cystathionine beta-synthase deficiency
Glycine N -methyltransferase deficiency: a new patient with a novel mutation.
cystathionine beta-synthase deficiency
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
cystathionine beta-synthase deficiency
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
cystathionine beta-synthase deficiency
Hepatocyte-specific Dyrk1a gene transfer rescues plasma apolipoprotein A-I levels and aortic Akt/GSK3 pathways in hyperhomocysteinemic mice.
cystathionine beta-synthase deficiency
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
cystathionine beta-synthase deficiency
High homocysteine induces betaine depletion.
cystathionine beta-synthase deficiency
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
cystathionine beta-synthase deficiency
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
cystathionine beta-synthase deficiency
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
cystathionine beta-synthase deficiency
Homocysteinaemia after methionine overload as a coronary artery disease risk factor: importance of age and homocysteine levels.
cystathionine beta-synthase deficiency
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
cystathionine beta-synthase deficiency
Homocysteine thiolactone disposal by human arterial endothelial cells and serum in vitro.
cystathionine beta-synthase deficiency
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
cystathionine beta-synthase deficiency
Homocysteine: overview of biochemistry, molecular biology, and role in disease processes.
cystathionine beta-synthase deficiency
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
cystathionine beta-synthase deficiency
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
cystathionine beta-synthase deficiency
Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta synthase deficiency.
cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
cystathionine beta-synthase deficiency
Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.
cystathionine beta-synthase deficiency
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.
cystathionine beta-synthase deficiency
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
cystathionine beta-synthase deficiency
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
cystathionine beta-synthase deficiency
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
cystathionine beta-synthase deficiency
Human cystathionine beta-synthase is a target for sumoylation.
cystathionine beta-synthase deficiency
Huntingtin interacts with cystathionine beta-synthase.
cystathionine beta-synthase deficiency
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
cystathionine beta-synthase deficiency
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
cystathionine beta-synthase deficiency
Hyperhomocysteinaemia: a role in the accelerated atherogenesis of chronic renal failure?
cystathionine beta-synthase deficiency
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
cystathionine beta-synthase deficiency
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
cystathionine beta-synthase deficiency
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
cystathionine beta-synthase deficiency
Hyperhomocysteinemia: an independent risk factor for vascular disease.
cystathionine beta-synthase deficiency
Hyperhomocysteinemia: an instigating factor for periodontal disease.
cystathionine beta-synthase deficiency
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
cystathionine beta-synthase deficiency
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
cystathionine beta-synthase deficiency
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
cystathionine beta-synthase deficiency
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.
cystathionine beta-synthase deficiency
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
cystathionine beta-synthase deficiency
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
cystathionine beta-synthase deficiency
In the cystathionine beta-synthase knockout mouse, elevations in total plasma homocysteine increase tissue S-adenosylhomocysteine, but responses of S-adenosylmethionine and DNA methylation are tissue specific.
cystathionine beta-synthase deficiency
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon.
cystathionine beta-synthase deficiency
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
cystathionine beta-synthase deficiency
Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine.
cystathionine beta-synthase deficiency
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
cystathionine beta-synthase deficiency
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
cystathionine beta-synthase deficiency
Lack of global epigenetic methylation defects in CBS deficient mice.
cystathionine beta-synthase deficiency
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
cystathionine beta-synthase deficiency
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.
cystathionine beta-synthase deficiency
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
cystathionine beta-synthase deficiency
Mechanisms of thrombogenesis and accelerated atherogenesis in homocysteinaemia.
cystathionine beta-synthase deficiency
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
cystathionine beta-synthase deficiency
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.
cystathionine beta-synthase deficiency
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Methylgenesis from betaine in cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
cystathionine beta-synthase deficiency
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
cystathionine beta-synthase deficiency
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
cystathionine beta-synthase deficiency
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
cystathionine beta-synthase deficiency
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
cystathionine beta-synthase deficiency
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
cystathionine beta-synthase deficiency
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
cystathionine beta-synthase deficiency
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
cystathionine beta-synthase deficiency
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
cystathionine beta-synthase deficiency
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
cystathionine beta-synthase deficiency
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine ?-synthase (CBS) reveal effects on CBS activity but not stability.
cystathionine beta-synthase deficiency
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
cystathionine beta-synthase deficiency
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
cystathionine beta-synthase deficiency
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.
cystathionine beta-synthase deficiency
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
cystathionine beta-synthase deficiency
Newborn screening for homocystinuria: Irish and world experience.
cystathionine beta-synthase deficiency
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
cystathionine beta-synthase deficiency
Newborn screening for homocystinurias: recent recommendations versus current practice.
cystathionine beta-synthase deficiency
Newborn screening for homocystinurias: Recent recommendations versus current practice.
cystathionine beta-synthase deficiency
Novel cystathionine ?-synthase gene mutations in a Filipino patient with classic homocystinuria.
cystathionine beta-synthase deficiency
Novel risk factors for vascular disease: the homocysteine hypothesis of cardiovascular disease.
cystathionine beta-synthase deficiency
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
cystathionine beta-synthase deficiency
One-carbon cycle alterations induced by Dyrk1a dosage.
cystathionine beta-synthase deficiency
Oxidative stress and platelet activation in homozygous homocystinuria.
cystathionine beta-synthase deficiency
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
cystathionine beta-synthase deficiency
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
cystathionine beta-synthase deficiency
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Pharmacological activation and genetic manipulation of cystathionine beta-synthase alter circulating levels of homocysteine and hydrogen sulfide in mice.
cystathionine beta-synthase deficiency
Plasma homocysteine and methionine tolerance in early-onset vascular disease.
cystathionine beta-synthase deficiency
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Postoperative thromboemboli in cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
cystathionine beta-synthase deficiency
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
cystathionine beta-synthase deficiency
Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.
cystathionine beta-synthase deficiency
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
cystathionine beta-synthase deficiency
Protein arginine hypomethylation in a mouse model of cystathionine ?-synthase deficiency.
cystathionine beta-synthase deficiency
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.
cystathionine beta-synthase deficiency
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
cystathionine beta-synthase deficiency
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
cystathionine beta-synthase deficiency
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
cystathionine beta-synthase deficiency
Recent advances in the mechanism of pyridoxine-responsive disorders.
cystathionine beta-synthase deficiency
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
cystathionine beta-synthase deficiency
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.
cystathionine beta-synthase deficiency
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
cystathionine beta-synthase deficiency
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
cystathionine beta-synthase deficiency
Reduction of false negative results in screening of newborns for homocystinuria.
cystathionine beta-synthase deficiency
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
cystathionine beta-synthase deficiency
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.
cystathionine beta-synthase deficiency
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Screening for serum total homocysteine in newborn children.
cystathionine beta-synthase deficiency
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
cystathionine beta-synthase deficiency
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ?-synthase p.R336C.
cystathionine beta-synthase deficiency
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
cystathionine beta-synthase deficiency
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
cystathionine beta-synthase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
cystathionine beta-synthase deficiency
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
cystathionine beta-synthase deficiency
The case for mild hyperhomocysteinaemia as a risk factor.
cystathionine beta-synthase deficiency
The effect of dietary modulation of sulfur amino acids on cystathionine ? synthase-deficient mice.
cystathionine beta-synthase deficiency
The Effect of in Vitro Homocystinuria on the Suckling Rat Hippocampal Acetylcholinesterase.
cystathionine beta-synthase deficiency
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
cystathionine beta-synthase deficiency
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
cystathionine beta-synthase deficiency
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
cystathionine beta-synthase deficiency
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
cystathionine beta-synthase deficiency
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
The natural history of vascular disease in homocystinuria and the effects of treatment.
cystathionine beta-synthase deficiency
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
cystathionine beta-synthase deficiency
The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemia.
cystathionine beta-synthase deficiency
Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings.
cystathionine beta-synthase deficiency
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
cystathionine beta-synthase deficiency
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
cystathionine beta-synthase deficiency
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
cystathionine beta-synthase deficiency
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
cystathionine beta-synthase deficiency
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
cystathionine beta-synthase deficiency
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
cystathionine beta-synthase deficiency
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
cystathionine beta-synthase deficiency
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
cystathionine beta-synthase deficiency
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
cystathionine beta-synthase deficiency
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.
cystathionine beta-synthase deficiency
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
cystathionine beta-synthase deficiency
[A case of young adult presenting with cerebral infarction caused by homocystinuria]
cystathionine beta-synthase deficiency
[Can blood homocysteine explain the family history of vascular diseases?]
cystathionine beta-synthase deficiency
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]
cystathionine beta-synthase deficiency
[Cystathionine betasynthase and MTHFR deficiencies in adults]
cystathionine beta-synthase deficiency
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
cystathionine beta-synthase deficiency
[Homocystinuria with generalized chorea and other movement disorders: a case report]
cystathionine beta-synthase deficiency
[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]
cystathionine beta-synthase deficiency
[Inherited metabolic disorders of the transsulfuration pathway]
cystathionine beta-synthase deficiency
[Plasma homocysteine, a risk factor for premature vascular disease. Plasma levels in healthy persons; during pathologic conditions and drug therapy]
Cystic Fibrosis
Growth and protease secretion of Scedosporium aurantiacum under conditions of hypoxia.
Cystic Fibrosis
Mycoserological study of the treatment of paediatric cystic fibrosis patients with Saccharomyces boulardii (Saccharomyces cerevisiae Hansen CBS 5926).
Cysts
Feasibility of a hybrid elastographic-microfluidic device to rapidly process and assess pancreatic cancer biopsies for pathologists.
Cysts
Morphology and ultrastructure of the germarium in panoistic ovarioles of a basal "apterygotous" insect, Thermobia domestica.
Dandruff
Complete Genome Sequence of Malassezia restricta CBS 7877, an Opportunist Pathogen Involved in Dandruff and Seborrheic Dermatitis.
Dehydration
Mixtures of semisynthetic species of cerebroside sulfate with dipalmitoyl phosphatidylcholine. Thermotropic phase behavior and permeability.
Dehydration
Trans interactions between galactosylceramide and cerebroside sulfate across apposed bilayers.
Delirium
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
Dementia
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
Dementia
Accessing community dementia care services in Ireland: Emotional barriers for caregivers.
Dementia
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Dementia
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Dementia
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model.
Dementia
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Dementia
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
Dementia
Neural correlates of caregiver burden in cortical basal syndrome and frontotemporal dementia.
Dementia
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Dementia
Post mortem cerebrospinal fluid ?-synuclein levels are raised in multiple system atrophy and distinguish this from the other ?-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies.
Dementia
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
Dementia
The Cornell-Brown Scale for Quality of Life in Dementia: Spanish Adaptation and Validation.
Dementia
The influence of 'cognitive busyness' on causal attributions of challenging behaviour in dementia: A preliminary experimental study.
Dementia
[Psychiatric, psychological comorbidities of typical and atypical Charles-Bonnet syndrome].
Dementia, Vascular
Involvement of Endothelin-1, H2S and Nrf2 in Beneficial Effects of Remote Ischemic Preconditioning in Global Cerebral Ischemia-Induced Vascular Dementia in Mice.
Demyelinating Diseases
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Demyelinating Diseases
Persistent multifocal pseudo-conduction blocks in vasculitic neuropathy without antiganglioside antibodies.
Demyelinating Diseases
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
Dengue
Evaluation of community based surveillance in the Rohingya refugee camps in Cox's Bazar, Bangladesh, 2019.
Dental Caries
Evaluation and Comparison of Caries Excavation Efficacy of Three Different Burs: A Micro-computed Tomographic-assisted Study.
Dermatitis
Immunoglobulin G responses to Malassezia pachydermatis in healthy dogs and dogs with Malassezia dermatitis.
Dermatitis, Seborrheic
Complete Genome Sequence of Malassezia restricta CBS 7877, an Opportunist Pathogen Involved in Dandruff and Seborrheic Dermatitis.
Diabetes Mellitus
Serum levels of cancer biomarkers in diabetic and non-diabetic proteinuric patients: a preliminary study.
Diabetes Mellitus
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Diabetic Nephropathies
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
Diabetic Neuropathies
Possible involvement of peripheral TRP channels in the hydrogen sulfide-induced hyperalgesia in diabetic rats.
Diabetic Retinopathy
Therapeutic Effects of Rivastigmine and Alfa-Lipoic Acid Combination in the Charles Bonnet Syndrome: Electroencephalography Correlates.
Down Syndrome
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Down Syndrome
Alterations in the Serotonin and Dopamine Pathways by Cystathionine Beta Synthase Overexpression in Murine Brain.
Down Syndrome
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.
Down Syndrome
Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.
Down Syndrome
Commentary on: Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.
Down Syndrome
Cystathionine-?-Synthase: Molecular Regulation and Pharmacological Inhibition.
Down Syndrome
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
Down Syndrome
Expression of cystathionine beta-synthase and histopathological observations in placentas of patients with Down syndrome.
Down Syndrome
Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
Down Syndrome
High frequency of the 844ins68 cystathionine-beta-synthase gene variant in Down syndrome children with acute myeloid leukemia.
Down Syndrome
Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome.
Down Syndrome
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.
Down Syndrome
Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil.
Down Syndrome
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Down Syndrome
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.
Down Syndrome
Overproduction of H2S, generated by CBS, inhibits mitochondrial Complex IV and suppresses oxidative phosphorylation in Down syndrome.
Down Syndrome
Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China.
Down Syndrome
Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage.
Down Syndrome
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil.
Down Syndrome
Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts.
Down Syndrome
Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.
Down Syndrome
Slowed synthesis of DNA and methionine is a pathogenetic mechanism common to dementia in Down's syndrome, AIDS and Alzheimer's disease?
Down Syndrome
Synergistic regulation of human cystathionine-beta-synthase-1b promoter by transcription factors NF-YA isoforms and Sp1.
Down Syndrome
The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome.
Down Syndrome
Transcriptional regulation of cell-specific expression of the human cystathionine beta -synthase gene by differential binding of Sp1/Sp3 to the -1b promoter.
Down Syndrome
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Down Syndrome
Transcriptional regulation of the human cystathionine beta-synthase -1b basal promoter: synergistic transactivation by transcription factors NF-Y and Sp1/Sp3.
Drug Resistant Epilepsy
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Dry Eye Syndromes
Efficacy of Standardized and Quality-Controlled Cord Blood Serum Eye Drop Therapy in the Healing of Severe Corneal Epithelial Damage in Dry Eye.
Dry Eye Syndromes
In Vivo Confocal Microscopy Automated Morphometric Analysis of Corneal Subbasal Nerve Plexus in Patients With Dry Eye Treated With Different Sources of Homologous Serum Eye Drops.
Duodenal Ulcer
A comparative study of colloidal bismuth subcitrate and cimetidine on the healing and recurrence of duodenal ulcer.
Duodenal Ulcer
Adjuvant antibiotic therapy in duodenal ulcers treated with colloidal bismuth subcitrate.
Duodenal Ulcer
Colloidal bismuth pectin: an alternative to bismuth subcitrate for the treatment of Helicobacter pylori--positive duodenal ulcer.
Duodenal Ulcer
Colloidal bismuth subcitrate and two different dosages of cimetidine in the treatment of resistant duodenal ulcer. Preliminary results.
Duodenal Ulcer
Colloidal bismuth subcitrate as coated tablets: four times versus twice daily dosage in duodenal ulcer.
Duodenal Ulcer
Double-blind controlled trial with colloidal bismuth subcitrate in the treatment of symptomatic duodenal ulcers with special references to blood and urine bismuth levels.
Duodenal Ulcer
Effect of two different doses of metronidazole and tetracycline in bismuth triple therapy on eradication of Helicobacter pylori and its resistant strains.
Duodenal Ulcer
Impact of colloidal bismuth subnitrate in the eradication rates of Helicobacter pylori infection-associated duodenal ulcer using a short treatment regimen with omeprazole and clarithromycin: a randomized study.
Duodenal Ulcer
Mucosa protectives: sucralfate and colloidal bismuth subcitrate in peptic ulcer disease.
Duodenal Ulcer
Studies on the gastroprotective and ulcer-healing effects of colloidal bismuth subcitrate.
Duodenal Ulcer
The role of colloidal bismuth subcitrate in the short-term treatment of duodenal ulcer.
Duodenal Ulcer
Treatment of Campylobacter pylori gastritis: a pilot study using pirenzepine dihydrochloride (Gastrozepin) and three formulations of colloidal bismuth subcitrate (De-Nol).
Dysarthria
Metabolic and Structural Signatures of Speech and Language Impairment in Corticobasal Syndrome: A Multimodal PET/MRI Study.
Dyscalculia
The Progressive Acalculia Presentation of Parietal Variant Alzheimer's Disease.
Dyskinesias
Cortical Activation During Levitation and Tentacular Movements of Corticobasal Syndrome.
Dyslipidemias
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine ?-synthase-deficient rabbit generated using CRISPR/Cas9.
Dyslipidemias
Modeling premature occurrence of acute coronary syndrome with atherogenic and thrombogenic risk factors and gene markers in extended families.
Dyslipidemias
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Dystonia
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Dystonia
Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.
Ectopia Lentis
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Ectopia Lentis
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Ectopia Lentis
Reduction of false negative results in screening of newborns for homocystinuria.
Ectopia Lentis
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Ectopia Lentis
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Embolism
Endoscopic Muscle Repair of Right Internal Carotid Artery Rupture Following Endovascular Procedure.
Endometrial Neoplasms
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy.
Endometriosis
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
Endotoxemia
Effect of endotoxemia in mice genetically deficient in cystathionine-?-lyase, cystathionine-?-synthase or 3-mercaptopyruvate sulfurtransferase.
Endotoxemia
Inhibition of endogenous hydrogen sulfide formation reduces the organ injury caused by endotoxemia.
Enterocolitis
Mycoserological study of the treatment of paediatric cystic fibrosis patients with Saccharomyces boulardii (Saccharomyces cerevisiae Hansen CBS 5926).
Epilepsy
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Epilepsy
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
Epilepsy
Charles Bonnet syndrome in hemianopia, following antero-mesial temporal lobectomy for drug-resistant epilepsy.
Epilepsy
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Epilepsy
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.
Epilepsy, Temporal Lobe
Charles Bonnet syndrome in hemianopia, following antero-mesial temporal lobectomy for drug-resistant epilepsy.
Erectile Dysfunction
[Expressions of CSE and CBS in the corpus cavernosum of spontaneous hypertensive rats].
Erectile Dysfunction
[Expressions of cystathionine-beta-synthase and cystathionine-gamma-lyase in the corpus cavernosum smooth muscle of castrated rats].
Esophageal Achalasia
Reduction of hydrogen sulfide synthesis enzymes in the esophagus of patients with achalasia: effect of hydrogen sulfide in achalasia.
Esophageal Neoplasms
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Esophageal Squamous Cell Carcinoma
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Esophagitis
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
Essential Hypertension
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Eye Diseases
FDG-PET scanning shows distributed changes in cortical activity associated with visual hallucinations in eye disease.
Eye Diseases
The distribution of cystathionine beta-synthase (CBS) in the eye: Implication of the presence of a trans-sulfuration pathway for oxidative stress defense.
Eye Injuries
GFAP expression in the optic nerve and increased H2S generation in the integration centers of the rainbow trout (Oncorhynchus mykiss) brain after unilateral eye injury.
Fanconi Anemia
Molecular Portrait of Metastasis-Competent Circulating Tumor Cells in Colon Cancer Reveals the Crucial Role of Genes Regulating Energy Metabolism and DNA Repair.
Fasciculation
Central motor conduction time in patients with multifocal motor conduction block.
Fatty Liver
Choline deprivation induces hyperhomocysteinemia in rats fed low methionine diets.
Fatty Liver
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Fatty Liver
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Fatty Liver
Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria.
Frontotemporal Dementia
A novel deletion in progranulin gene is associated with FTDP-17 and CBS.
Frontotemporal Dementia
Neuropathological background of phenotypical variability in frontotemporal dementia.
Frontotemporal Dementia
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Frontotemporal Dementia
Progranulin Peripheral Levels as a Screening Tool for the Identification of Subjects with Progranulin Mutations in a Portuguese Cohort.
Frontotemporal Dementia
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
Frontotemporal Dementia
Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation.
Frontotemporal Dementia
The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.
Frontotemporal Dementia
The Mini-Addenbrooke's Cognitive Examination: a new assessment tool for dementia.
Frontotemporal Lobar Degeneration
A Mutation in the 5'-UTR of GRN Gene Associated with Frontotemporal Lobar Degeneration: Phenotypic Variability and Possible Pathogenetic Mechanisms.
Frontotemporal Lobar Degeneration
A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.
Frontotemporal Lobar Degeneration
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Frontotemporal Lobar Degeneration
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.
Frontotemporal Lobar Degeneration
Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.
Frontotemporal Lobar Degeneration
Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study.
Frontotemporal Lobar Degeneration
Mutation analysis of C9orf72 in patients with corticobasal syndrome.
Frontotemporal Lobar Degeneration
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.
Frontotemporal Lobar Degeneration
Oculomotor function in frontotemporal lobar degeneration, related disorders and Alzheimer's disease.
Frontotemporal Lobar Degeneration
Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.
Frontotemporal Lobar Degeneration
[Corticobasal syndrome: recent advances and future directions].
Gait Disorders, Neurologic
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Gastritis
Adjuvant antibiotic therapy in duodenal ulcers treated with colloidal bismuth subcitrate.
Gastritis
Antibacterial action of bismuth in relation to Campylobacter pyloridis colonization and gastritis.
Gastritis
Campylobacter associated gastritis in patients with non-ulcer dyspepsia: a double blind placebo controlled trial with colloidal bismuth subcitrate.
Gastritis
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Gastritis
Gastric antral erosions and Helicobacter pylori infection in cirrhotic patients: a pilot controlled study of oral bismuth vs ranitidine therapy.
Gastritis
Healing of chronic antral gastritis: effect of sucralfate and colloidal bismuth subcitrate.
Gastroesophageal Reflux
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
Gastrointestinal Diseases
Influence of Saccharomyces boulardii CNCM I-745on the gut-associated immune system.
Gastrointestinal Neoplasms
Frequent epigenetic silencing of the folate-metabolising gene cystathionine-Beta-synthase in gastrointestinal cancer.
Genetic Diseases, Inborn
A CBS domain-containing pyrophosphatase of Moorella thermoacetica is regulated by adenine nucleotides.
Genetic Diseases, Inborn
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
Genetic Diseases, Inborn
Bateman domains and adenosine derivatives form a binding contract.
Genetic Diseases, Inborn
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Genetic Diseases, Inborn
CBS domains: structure, function, and pathology in human proteins.
Genetic Diseases, Inborn
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Genetic Diseases, Inborn
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Genetic Diseases, Inborn
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
Genetic Diseases, Inborn
Crystallization and preliminary crystallographic analysis of merohedrally twinned crystals of MJ0729, a CBS-domain protein from Methanococcus jannaschii.
Genetic Diseases, Inborn
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Genetic Diseases, Inborn
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Genetic Diseases, Inborn
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Genetic Diseases, Inborn
Measurement of homocyst(e)ine in the prediction of arteriosclerosis.
Genetic Diseases, Inborn
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
Genetic Diseases, Inborn
Molecular genetics of hepatic methionine adenosyltransferase deficiency.
Genetic Diseases, Inborn
Nucleotide-induced conformational transitions in the CBS domain protein MJ0729 of Methanocaldococcus jannaschii.
Genetic Diseases, Inborn
Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.
Genetic Diseases, Inborn
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
Genetic Diseases, Inborn
Structural basis for the Mg2+ recognition and regulation of the CorC Mg2+ transporter.
Genetic Diseases, Inborn
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Genetic Diseases, Inborn
Synergistic regulation of human cystathionine-beta-synthase-1b promoter by transcription factors NF-YA isoforms and Sp1.
Genetic Diseases, Inborn
The CBS Domain Protein MJ0729 of Methanocaldococcus jannaschii Is a Thermostable Protein with a pH-Dependent Self-Oligomerization (dagger).
Genetic Diseases, Inborn
The CBS domain: a protein module with an emerging prominent role in regulation.
Genetic Diseases, Inborn
Transcriptional regulation of cell-specific expression of the human cystathionine beta -synthase gene by differential binding of Sp1/Sp3 to the -1b promoter.
Genetic Diseases, Inborn
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Geographic Atrophy
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Gitelman Syndrome
A Spanish Founder Mutation in the Chloride Channel Gene, CLCNKB, as a Cause of Atypical Bartter Syndrome in Adult Age.
Glaucoma
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Glaucoma
Elastin modulation and modification by homocysteine: a key factor in the pathogenesis of Pseudoexfoliation syndrome?
Glaucoma
Prevalence of Charles Bonnet syndrome in patients with glaucoma: a systematic review with meta-analyses.
Glaucoma
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Glaucoma
Relevant variations and neuroprotecive effect of hydrogen sulfide in a rat glaucoma model.
Glaucoma
Three cases of Charles Bonnet Syndrome in patients with advanced glaucomatous visual field loss but preserved visual acuity.
Glioblastoma
Hypoxia-inducible factors regulate human and rat cystathionine ?-synthase gene expression.
Glioblastoma
On the effects of CP 55-940 and other cannabinoid receptor agonists in C6 and U373 cell lines.
Glucose Intolerance
Exploring the Mediators that Promote Carotid Body Dysfunction in Type 2 Diabetes and Obesity Related Syndromes.
Glucose Intolerance
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Granuloma
Comparison of plasma-thrombin, HistoGel, and CellGel cell block preparation methods with paired ThinPrep slides in the setting of mediastinal granulomatous disease.
Granuloma
Local administration of WIN 55,212-2 reduces chronic granuloma-associated angiogenesis in rat by inhibiting NF-kappaB activation.
Hallucinations
An examination of the relationship between low vision and Charles Bonnet syndrome.
Hallucinations
Atypical Charles Bonnet hallucinations: an elf in the woodshed, a spirit of evil, and the cowboy malefactors.
Hallucinations
Ave Maria and Visions of Children: Atypical Charles Bonnet Syndrome or Two Coexisting Deafferentation Phenomena?
Hallucinations
Cerebellar correlates of visual hallucinations in Parkinson's disease and Charles Bonnet Syndrome.
Hallucinations
Charles Bonnet syndrome associated with a first attack of multiple sclerosis.
Hallucinations
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
Hallucinations
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Hallucinations
Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.
Hallucinations
Differentiating between visual hallucination-free dementia with Lewy bodies and corticobasal syndrome on the basis of neuropsychology and perfusion single-photon emission computed tomography.
Hallucinations
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Hallucinations
Evaluation of the Clinical Features, Management, and Prognoses of Patients With Charles Bonnet Syndrome.
Hallucinations
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Hallucinations
FDG-PET scanning shows distributed changes in cortical activity associated with visual hallucinations in eye disease.
Hallucinations
Frightening visual hallucinations: atypical presentation of Charles Bonnet syndrome triggered by the Black Saturday bushfires.
Hallucinations
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hallucinations
Hallucinations in visually impaired individuals : An analysis of the National Comorbidity Survey Replication.
Hallucinations
Hallucinatory experiences in visually impaired individuals: Charles Bonnet syndrome - implications for research and clinical practice.
Hallucinations
High-Density EEG in a Charles Bonnet Syndrome Patient during and without Visual Hallucinations: A Case-Report Study.
Hallucinations
Hypermetabolism in the left thalamus and right inferior temporal area on positron emission tomography-statistical parametric mapping (PET-SPM) in a patient with Charles Bonnet syndrome resolving after treatment with valproic acid.
Hallucinations
Multimodal Hallucinations in a Visually Impaired Elderly Female: Is it a Variant of Charles Bonnet Syndrome?
Hallucinations
Power spectral density and coherence analysis of eye disease with and without visual hallucination.
Hallucinations
Resting-state functional connectivity and cortical thickness characterization of a patient with Charles Bonnet syndrome.
Hallucinations
Social and psychological characteristics of elderly visually handicapped patients with the Charles Bonnet Syndrome.
Hallucinations
Stimulus-Driven Cortical Hyperexcitability in Individuals with Charles Bonnet Hallucinations.
Hallucinations
The curious case of an invisible dog: a patient with non-psychiatric visual hallucinations.
Hallucinations
The elephant in the room: understanding the pathogenesis of Charles Bonnet syndrome.
Hallucinations
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Hallucinations
Therapeutic Effects of Rivastigmine and Alfa-Lipoic Acid Combination in the Charles Bonnet Syndrome: Electroencephalography Correlates.
Hallucinations
Three cases of Charles Bonnet Syndrome in patients with advanced glaucomatous visual field loss but preserved visual acuity.
Hallucinations
Visual hallucinations and Charles Bonnet syndrome after photodynamic therapy for age related macular degeneration.
Hallucinations
Visual hallucinations in psychologically normal people: Charles Bonnet's syndrome.
Hallucinations
What associates Charles Bonnet syndrome with age-related macular degeneration?
Hallucinations
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
Hallucinations
[Psychiatric, psychological comorbidities of typical and atypical Charles-Bonnet syndrome].
Head and Neck Neoplasms
Computed Tomography Angiography findings can predict massive bleeding in head and neck tumours.
Head and Neck Neoplasms
Embolization for Carotid Blowout in Head and Neck Cancer: Case Report of Five Patients.
Head and Neck Neoplasms
Endovascular management of carotid blowout syndrome in patients with head and neck cancers.
Head and Neck Neoplasms
Endovascular management of the carotid blowout syndrome: a single-center experience.
Head and Neck Neoplasms
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
Head and Neck Neoplasms
Patients with head and neck cancers and associated postirradiated carotid blowout syndrome: endovascular therapeutic methods and outcomes.
Head and Neck Neoplasms
Polytetrafluoroethylene-covered nitinol stent graft for treatment of carotid artery blowout syndrome in head and neck cancer patients.
Head and Neck Neoplasms
Prevention and early management of carotid blowout syndrome for patients receiving head and neck salvage boron neutron capture therapy (BNCT).
Head and Neck Neoplasms
Risk factors and nomogram for predicting carotid blowout syndrome based on computed tomography angiography.
Head and Neck Neoplasms
Rupture of carotid artery pseudoaneurysm in the modern era of definitive chemoradiation for head and neck cancer: Two case reports.
Head and Neck Neoplasms
Transcarotid Mechanical Thrombectomy for Embolic Intracranial Large Vessel Occlusion after Endovascular Deconstructice Embolization for Carotid Blowout Syndrome.
Heart Arrest
Analysis of functioning and efficiency of a code blue system in a tertiary care hospital.
Heart Defects, Congenital
A functional variant in the cystathionine ?-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population.
Heart Defects, Congenital
Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring.
Heart Defects, Congenital
Homocysteine concentrations and molecular analysis in patients with congenital heart defects.
Heart Defects, Congenital
Relationship between polymorphism of cystathionine beta synthase gene and congenital heart disease in Chinese nuclear families.
Heart Defects, Congenital
Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects.
Heart Defects, Congenital
Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease.
Heart Defects, Congenital
[A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine beta-synthase gene, and environmental factors]
Heart Defects, Congenital
[CBS gene variations and serum homocysteine level associated with congenital heart defects]
Heart Failure
Carotid baroreceptor stimulation suppresses ventricular fibrillation in canines with chronic heart failure.
Heart Failure
Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death.
Heart Neoplasms
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Heart Septal Defects, Atrial
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.
Hematologic Diseases
Pros and Cons of the Cannabinoid System in Cancer: Focus on Hematological Malignancies.
Hemorrhagic Stroke
A diet rich in taurine, cysteine, folate, B12 and betaine may lessen risk for Alzheimer's disease by boosting brain synthesis of hydrogen sulfide.
Hepatitis C
Development of the International Consortium for Blood Safety (ICBS) HCV panels.
HIV Infections
Characterization of carbosilane dendrimers as effective carriers of siRNA to HIV-infected lymphocytes.
Homocystinuria
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Homocystinuria
A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
Homocystinuria
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
Homocystinuria
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
Homocystinuria
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Homocystinuria
A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.
Homocystinuria
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
Homocystinuria
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Homocystinuria
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.
Homocystinuria
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Homocystinuria
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Homocystinuria
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Homocystinuria
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency.
Homocystinuria
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Homocystinuria
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Homocystinuria
Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria.
Homocystinuria
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Homocystinuria
Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: Possible implications for cardiovascular outcomes.
Homocystinuria
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Homocystinuria
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.
Homocystinuria
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Homocystinuria
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
Homocystinuria
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
Homocystinuria
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Homocystinuria
Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids.
Homocystinuria
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Homocystinuria
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
Homocystinuria
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Homocystinuria
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Homocystinuria
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ?-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
Homocystinuria
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene.
Homocystinuria
Brain energy metabolism is compromised by the metabolites accumulating in homocystinuria.
Homocystinuria
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Homocystinuria
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Homocystinuria
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Homocystinuria
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.
Homocystinuria
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Homocystinuria
Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.
Homocystinuria
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Homocystinuria
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Homocystinuria
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Homocystinuria
Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins.
Homocystinuria
Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model.
Homocystinuria
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Homocystinuria
Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies.
Homocystinuria
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.
Homocystinuria
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Homocystinuria
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
Homocystinuria
Coagulation factors and markers of activation of coagulation in homocystinuria (HOCY): a study in two siblings.
Homocystinuria
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.
Homocystinuria
Correction of cystathionine ?-synthase deficiency in mice by treatment with proteasome inhibitors.
Homocystinuria
Creatine prevents the imbalance of redox homeostasis caused by homocysteine in skeletal muscle of rats.
Homocystinuria
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Homocystinuria
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
Homocystinuria
Cystathionine ?-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanogaster.
Homocystinuria
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Homocystinuria
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Homocystinuria
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
Homocystinuria
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Homocystinuria
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Homocystinuria
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Homocystinuria
Cystathionine beta synthase modulates senescence of human endothelial cells.
Homocystinuria
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
Homocystinuria
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria.
Homocystinuria
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Homocystinuria
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Homocystinuria
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Homocystinuria
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Homocystinuria
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Homocystinuria
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Homocystinuria
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Homocystinuria
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Homocystinuria
Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death.
Homocystinuria
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
Homocystinuria
Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
Homocystinuria
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Homocystinuria
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.
Homocystinuria
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Homocystinuria
Determination of l-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine ?-synthase deficiency.
Homocystinuria
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Homocystinuria
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Homocystinuria
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Homocystinuria
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Homocystinuria
Effect of cadmium administration in hyperhomocysteinemic mice due to cystathionine beta synthase deficiency.
Homocystinuria
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Homocystinuria
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Homocystinuria
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria.
Homocystinuria
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Homocystinuria
Enzyme replacement with PEGylated cystathionine ?-synthase ameliorates homocystinuria in murine model.
Homocystinuria
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Homocystinuria
Evaluation of tracer labelled methionine load test in vitamin B-12 deficient adolescent women.
Homocystinuria
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients.
Homocystinuria
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Homocystinuria
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
Homocystinuria
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Homocystinuria
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Homocystinuria
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.
Homocystinuria
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Homocystinuria
Folding and activity of mutant cystathionine ?-synthase depends on the position and nature of the purification tag: Characterization of the R266K CBS mutant.
Homocystinuria
Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Homocystinuria
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
Homocystinuria
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
Homocystinuria
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Homocystinuria
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin.
Homocystinuria
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Homocystinuria
G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites.
Homocystinuria
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
Homocystinuria
Glucose-induced decrease of cystathionine ?-synthase mediates renal injuries.
Homocystinuria
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Homocystinuria
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
Homocystinuria
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12.
Homocystinuria
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and raman spectroscopy.
Homocystinuria
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
Homocystinuria
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Homocystinuria
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Homocystinuria
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Homocystinuria
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Homocystinuria
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Homocystinuria
Homocysteinaemia after methionine overload as a coronary artery disease risk factor: importance of age and homocysteine levels.
Homocystinuria
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
Homocystinuria
Homocysteine induces energy imbalance in rat skeletal muscle: Is creatine a protector?
Homocystinuria
Homocysteine metabolism in endothelial cells of a patient homozygous for cystathionine beta-synthase (CS) deficiency.
Homocystinuria
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
Homocystinuria
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Homocystinuria
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.
Homocystinuria
Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
Homocystinuria
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
Homocystinuria
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia.
Homocystinuria
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.
Homocystinuria
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Homocystinuria
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
Homocystinuria
Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.
Homocystinuria
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.
Homocystinuria
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Homocystinuria
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
Homocystinuria
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.
Homocystinuria
Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
Homocystinuria
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Homocystinuria
Human cystathionine beta-synthase (CBS) contains two classes of binding sites for S-adenosyl-L-methionine (SAM): complex regulation of CBS activity and stability by SAM.
Homocystinuria
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Homocystinuria
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Homocystinuria
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
Homocystinuria
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Homocystinuria
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Homocystinuria
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
Homocystinuria
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Homocystinuria
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme.
Homocystinuria
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Homocystinuria
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Homocystinuria
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Homocystinuria
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Homocystinuria
Identification and tissue distribution of human cystathionine beta-synthase mRNA isoforms.
Homocystinuria
Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA.
Homocystinuria
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Homocystinuria
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
Homocystinuria
In vitro effect of homocysteine on some parameters of oxidative stress in rat hippocampus.
Homocystinuria
Inborn errors of metabolism causing homocysteinemia and related vascular involvement.
Homocystinuria
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Homocystinuria
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Homocystinuria
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Homocystinuria
Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria.
Homocystinuria
Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.
Homocystinuria
Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.
Homocystinuria
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.
Homocystinuria
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance.
Homocystinuria
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: Decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Homocystinuria
Long-term functional correction of cystathionine ?-synthase deficiency in mice by adeno-associated viral gene therapy.
Homocystinuria
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.
Homocystinuria
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Homocystinuria
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.
Homocystinuria
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Homocystinuria
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
Homocystinuria
Microarray analysis of hepatic gene expression identifies new genes involved in steatotic liver.
Homocystinuria
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Homocystinuria
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
Homocystinuria
Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria.
Homocystinuria
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Homocystinuria
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Homocystinuria
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Homocystinuria
Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population.
Homocystinuria
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Homocystinuria
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.
Homocystinuria
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
Homocystinuria
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine ?-synthase (CBS) reveal effects on CBS activity but not stability.
Homocystinuria
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Homocystinuria
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
Homocystinuria
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
Homocystinuria
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.
Homocystinuria
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Homocystinuria
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
Homocystinuria
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Homocystinuria
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
Homocystinuria
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
Homocystinuria
Novel cystathionine ?-synthase gene mutations in a Filipino patient with classic homocystinuria.
Homocystinuria
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
Homocystinuria
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.
Homocystinuria
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
Homocystinuria
Peripheral nerve involvement in classic homocystinuria: an unusual association.
Homocystinuria
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
Homocystinuria
Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria.
Homocystinuria
Pharmacological activation and genetic manipulation of cystathionine beta-synthase alter circulating levels of homocysteine and hydrogen sulfide in mice.
Homocystinuria
Plasma homocysteine and methionine tolerance in early-onset vascular disease.
Homocystinuria
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency.
Homocystinuria
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
Homocystinuria
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Homocystinuria
Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.
Homocystinuria
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Homocystinuria
Protein arginine hypomethylation in a mouse model of cystathionine ?-synthase deficiency.
Homocystinuria
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.
Homocystinuria
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Homocystinuria
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.
Homocystinuria
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Homocystinuria
Purification, crystallization and preliminary crystallographic analysis of human cystathionine ?-synthase.
Homocystinuria
Purification, crystallization and preliminary crystallographic analysis of the catalytic core of cystathionine ?-synthase from Saccharomyces cerevisiae.
Homocystinuria
Purification, crystallization and preliminary crystallographic analysis of the full-length cystathionine ?-synthase from Apis mellifera.
Homocystinuria
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Homocystinuria
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Homocystinuria
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Homocystinuria
Reduction of false negative results in screening of newborns for homocystinuria.
Homocystinuria
Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.
Homocystinuria
Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk.
Homocystinuria
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones.
Homocystinuria
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Homocystinuria
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
Homocystinuria
Sex-specific dysregulation of cysteine oxidation and the methionine and folate cycles in female cystathionine gamma-lyase null mice: a serendipitous model of the methylfolate trap.
Homocystinuria
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Homocystinuria
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ?-synthase p.R336C.
Homocystinuria
Spatial and temporal expression of the cystathionine beta-synthase gene during early human development.
Homocystinuria
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Homocystinuria
Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Homocystinuria
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Homocystinuria
Structural basis of regulation and oligomerization of human cystathionine ?-synthase, the central enzyme of transsulfuration.
Homocystinuria
Structural insight into the molecular mechanism of allosteric activation of human cystathionine ?-synthase by S-adenosylmethionine.
Homocystinuria
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
Homocystinuria
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Homocystinuria
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Homocystinuria
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Homocystinuria
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.
Homocystinuria
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
Homocystinuria
The c.797 G>A (p.R266K) cystathionine ?-synthase mutation causes homocystinuria by affecting protein stability.
Homocystinuria
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Homocystinuria
The effect of dietary modulation of sulfur amino acids on cystathionine ? synthase-deficient mice.
Homocystinuria
The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
Homocystinuria
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.
Homocystinuria
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
Homocystinuria
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
Homocystinuria
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Homocystinuria
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Homocystinuria
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Homocystinuria
The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.
Homocystinuria
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
The natural history of vascular disease in homocystinuria and the effects of treatment.
Homocystinuria
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Homocystinuria
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
Homocystinuria
Thrombomodulin and ristocetincofactor in homocystinuria: a study in two siblings.
Homocystinuria
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Homocystinuria
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Homocystinuria
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Homocystinuria
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Homocystinuria
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Homocystinuria
Unilateral and Spontaneous Complete Anterior Dislocation of the Crystalline Lens in a Patient With Homocystinuria.
Homocystinuria
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Homocystinuria
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
Homocystinuria
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Homocystinuria
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study.
Homocystinuria
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Homocystinuria
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria.
Homocystinuria
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
Homocystinuria
[Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients]
Homocystinuria
[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]
Homocystinuria
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Homocystinuria
[Homocystinuria with generalized chorea and other movement disorders: a case report]
Homocystinuria
[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]
Homocystinuria
[Plasma homocysteine, a risk factor for premature vascular disease. Plasma levels in healthy persons; during pathologic conditions and drug therapy]
Homocystinuria
[Severe hyperhomocysteinemia revealing homocystinuria in two young adults with mild phenotype]
Homocystinuria
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase.]
Homozygous Familial Hypercholesterolemia
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Hydrocephalus
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hydrocephalus, Normal Pressure
Gulliver's world: Persistent lilliputian hallucinations as manifestation of Charles Bonnet syndrome in a case of cataract and normal pressure hydrocephalus.
Hyperalgesia
Promoter demethylation of cystathionine-?-synthetase gene contributes to inflammatory pain in rats.
Hyperalgesia
Role of hydrogen sulfide in the pain processing of non-diabetic and diabetic rats.
Hypercholesterolemia
Hyperhomocysteinemia Promotes Inflammatory Monocyte Generation and Accelerates Atherosclerosis in Transgenic Cystathionine {beta}-Synthase-Deficient Mice.
Hypercholesterolemia
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
Hypercholesterolemia
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis]
Hyperglycemia
[Expressions of CSE and CBS in the penile corpus cavernosum of hyperglycemia rats and their implications].
Hyperhomocysteinemia
Abnormal lipid metabolism in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia.
Hyperhomocysteinemia
Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia.
Hyperhomocysteinemia
Alterations of retinal vasculature in cystathionine-Beta-synthase mutant mice, a model of hyperhomocysteinemia.
Hyperhomocysteinemia
Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Hyperhomocysteinemia
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hyperhomocysteinemia
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.
Hyperhomocysteinemia
Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.
Hyperhomocysteinemia
Calpain activation is required for homocysteine-mediated hepatic degradation of inhibitor I kappa B alpha.
Hyperhomocysteinemia
CBS gene polymorphism and promoter methylation-mediating effects on the efficacy of folate therapy in patients with hyperhomocysteinemia.
Hyperhomocysteinemia
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Hyperhomocysteinemia
Chronoeffects of the Herbal Medicines Puerariae radix and Coptidis rhizoma in Mice: A Potential Role of REV-ERB?.
Hyperhomocysteinemia
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Hyperhomocysteinemia
Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.
Hyperhomocysteinemia
Creatine prevents the imbalance of redox homeostasis caused by homocysteine in skeletal muscle of rats.
Hyperhomocysteinemia
Cystathionine beta synthase deficiency affects mouse endochondral ossification.
Hyperhomocysteinemia
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Hyperhomocysteinemia
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Hyperhomocysteinemia
Cystathionine beta synthase gene dose dependent vascular remodeling in murine model of hyperhomocysteinemia.
Hyperhomocysteinemia
Cystathionine beta-synthase is essential for female reproductive function.
Hyperhomocysteinemia
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Hyperhomocysteinemia
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
Hyperhomocysteinemia
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury.
Hyperhomocysteinemia
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Hyperhomocysteinemia
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
Hyperhomocysteinemia
Diabetes Accelerates Retinal Neuronal Cell Death In A Mouse Model of Endogenous Hyperhomocysteinemia.
Hyperhomocysteinemia
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients.
Hyperhomocysteinemia
Dyrk1A, a Serine/Threonine Kinase, is Involved in ERK and Akt Activation in the Brain of Hyperhomocysteinemic Mice.
Hyperhomocysteinemia
Effect of hyperhomocysteinemia on the protein kinase DYRK1A in liver of mice.
Hyperhomocysteinemia
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
Hyperhomocysteinemia
Effects of catechin on homocysteine metabolism in hyperhomocysteinemic mice.
Hyperhomocysteinemia
Effects of red wine polyphenolic compounds on paraoxonase-1 and lectin-like oxidized low-density lipoprotein receptor-1 in hyperhomocysteinemic mice.
Hyperhomocysteinemia
Elevated levels of homocysteine compromise blood-brain barrier integrity in mice.
Hyperhomocysteinemia
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Hyperhomocysteinemia
Endothelial dysfunction in a murine model of mild hyperhomocyst(e)inemia.
Hyperhomocysteinemia
Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia.
Hyperhomocysteinemia
Expression of the cystathionine beta synthase (CBS) gene during mouse development and immunolocalization in adult brain.
Hyperhomocysteinemia
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Hyperhomocysteinemia
Fasting plasma homocysteine levels are increased in young patients with acute myocardial infarction from Western India.
Hyperhomocysteinemia
Feasibility of domino liver transplantation from hyperhomocsyteinemia.
Hyperhomocysteinemia
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Hyperhomocysteinemia
Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases.
Hyperhomocysteinemia
Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice.
Hyperhomocysteinemia
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes.
Hyperhomocysteinemia
Hepatocyte-specific Dyrk1a gene transfer rescues plasma apolipoprotein A-I levels and aortic Akt/GSK3 pathways in hyperhomocysteinemic mice.
Hyperhomocysteinemia
Homocysteine as a risk factor for ischemic stroke: an epidemiological story in evolution.
Hyperhomocysteinemia
Homocysteine induces energy imbalance in rat skeletal muscle: Is creatine a protector?
Hyperhomocysteinemia
Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways.
Hyperhomocysteinemia
Homocysteine-lowering gene therapy rescues signaling pathways in brain of mice with intermediate hyperhomocysteinemia.
Hyperhomocysteinemia
Homocysteine: overview of biochemistry, molecular biology, and role in disease processes.
Hyperhomocysteinemia
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Hyperhomocysteinemia
Human homocysteine catabolism: three major pathways and their relevance to development of arterial occlusive disease.
Hyperhomocysteinemia
Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation.
Hyperhomocysteinemia
Hydrogen sulfide generation in mammals: the molecular biology of cystathionine-?- synthase (CBS) and cystathionine-?-lyase (CSE).
Hyperhomocysteinemia
Hydrogen sulfide intervention in cystathionine-?-synthase mutant mouse helps restore ocular homeostasis.
Hyperhomocysteinemia
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Hyperhomocysteinemia
Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation.
Hyperhomocysteinemia
Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease.
Hyperhomocysteinemia
Hyperhomocysteinemia associated with decreased renal transsulfuration activity in Dahl S rats.
Hyperhomocysteinemia
Hyperhomocysteinemia due to cystathionine beta synthase deficiency induces dysregulation of genes involved in hepatic lipid homeostasis in mice.
Hyperhomocysteinemia
Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine ?-synthase-mediated homocysteine metabolism.
Hyperhomocysteinemia
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.
Hyperhomocysteinemia
Hyperhomocysteinemia induced endothelial progenitor cells dysfunction through hyper-methylation of CBS promoter.
Hyperhomocysteinemia
Hyperkeratosis in cystathionine beta synthase-deficient mice: an animal model of hyperhomocysteinemia.
Hyperhomocysteinemia
Increased endogenous H2S generation by CBS, CSE, and 3MST gene therapy improves ex vivo renovascular relaxation in hyperhomocysteinemia.
Hyperhomocysteinemia
Increased plasma homocysteine concentration in rats from a low casein diet.
Hyperhomocysteinemia
Influence of preconditioning-like hypoxia on the liver of developing methyl-deficient rats.
Hyperhomocysteinemia
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.
Hyperhomocysteinemia
Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathway.
Hyperhomocysteinemia
Mice lacking cystathionine beta synthase have lung fibrosis and air space enlargement.
Hyperhomocysteinemia
Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.
Hyperhomocysteinemia
Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice.
Hyperhomocysteinemia
Molecular Rescue of DYRK1A Overexpression in Cystathionine Beta Synthase-Deficient Mouse Brain by Enriched Environment Combined with Voluntary Exercise.
Hyperhomocysteinemia
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Hyperhomocysteinemia
Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.
Hyperhomocysteinemia
Oxidative stress and platelet activation in homozygous homocystinuria.
Hyperhomocysteinemia
Paraoxonase-1 expression is up-regulated in Down syndrome fetal liver.
Hyperhomocysteinemia
Peroxisome proliferator ameliorates endothelial dysfunction in a murine model of hyperhomocysteinemia.
Hyperhomocysteinemia
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia.
Hyperhomocysteinemia
Placental NRP1 and VEGF expression in pre-eclamptic women and in a homocysteine-treated mouse model of pre-eclampsia.
Hyperhomocysteinemia
Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.
Hyperhomocysteinemia
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
Hyperhomocysteinemia
PP013. Single nucleotide polymorphisms of the maternal cystathionine-b-synthase gene are associated with preeclampsia (PE).
Hyperhomocysteinemia
Protection and reversal of hepatic fibrosis by red wine polyphenols in hyperhomocysteinemic mice.
Hyperhomocysteinemia
Protein phosphatase 2A methyltransferase links homocysteine metabolism with tau and amyloid precursor protein regulation.
Hyperhomocysteinemia
Regulation of extracellular signal-regulated kinase by homocysteine in hippocampus.
Hyperhomocysteinemia
Resveratrol supplementation worsen the dysregulation of genes involved in hepatic lipid homeostasis observed in hyperhomocysteinemic mice.
Hyperhomocysteinemia
Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene.
Hyperhomocysteinemia
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Hyperhomocysteinemia
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Hyperhomocysteinemia
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Hyperhomocysteinemia
Taurine-deficient diet up-regulated cystathionine beta-synthase monoallele in hemizygous cystathionine beta-synthase knockout mice.
Hyperhomocysteinemia
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
Hyperhomocysteinemia
The Cbs Locus Affects the Expression of Senescence Markers and mtDNA Copy Number, but not Telomere Dynamics in Mice.
Hyperhomocysteinemia
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
Hyperhomocysteinemia
The pathophysiological hypothesis of homocysteine thiolactone-mediated vascular disease.
Hyperhomocysteinemia
Tissue-specific downregulation of dimethylarginine dimethylaminohydrolase in hyperhomocysteinemia.
Hyperhomocysteinemia
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Hyperhomocysteinemia
Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing.
Hyperhomocysteinemia
Vascular Complications of Cystathionine {beta}-Synthase Deficiency: Future Directions for Homocysteine-to-Hydrogen Sulfide Research.
Hyperhomocysteinemia
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Hyperhomocysteinemia
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.
Hyperhomocysteinemia
X-ray imaging of differential vascular density in MMP-9-/-, PAR-1-/+, hyperhomocysteinemic (CBS-/+) and diabetic (Ins2-/+) mice*
Hyperhomocysteinemia
[A hyperhomocysteinemia study in a population with a familial factor for acute myocardial infarct and sudden cardiac death at a young age]
Hyperhomocysteinemia
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]
Hyperhomocysteinemia
[Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]
Hyperhomocysteinemia
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Hyperhomocysteinemia
[Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data]
Hyperinsulinism
Effects of a high-fat-sucrose diet on enzymes in homocysteine metabolism in the rat.
Hyperlipoproteinemia Type II
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Hyperlipoproteinemia Type II
Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity.
Hypersensitivity
Adrenergic stimulation sensitizes TRPV1 through upregulation of cystathionine ?-synthetase in a rat model of visceral hypersensitivity.
Hypersensitivity
Inhibition of cystathionine ?-synthetase suppresses sodium channel activities of dorsal root ganglion neurons of rats with lumbar disc herniation.
Hypersensitivity
Promoted interaction of nuclear factor-?B with demethylated cystathionine-?-synthetase gene contributes to gastric hypersensitivity in diabetic rats.
Hypersensitivity
TLR4 upregulates CBS expression through NF-?B activation in a rat model of irritable bowel syndrome with chronic visceral hypersensitivity.
Hypertension
Association between gene promoter methylation of the one-carbon metabolism pathway and serum folate among patients with hyperhomocysteinemia.
Hypertension
Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
Hypertension
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Hypertension
Downregulating the P2X3 receptor in the carotid body to reduce blood pressure via acoustic gene delivery in canines.
Hypertension
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Hypertension
Hyperhomocysteinemia: association with renal transsulfuration and redox signaling in rats.
Hypertension
Leptin Induces Hypertension Acting on Transient Receptor Potential Melastatin 7 Channel in the Carotid Body.
Hypertension
Modeling premature occurrence of acute coronary syndrome with atherogenic and thrombogenic risk factors and gene markers in extended families.
Hypertension
Precision Targeted Ablation of Fine Neurovascular Structures In Vivo Using Dual-mode Ultrasound Arrays.
Hypertension
Review: Hyperhomocysteinemia - association with renal transsulfuration and redox signaling in rats.
Hypertension
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Hypertension
Studies in Zebrafish Demonstrate That CNNM2 and NT5C2 Are Most Likely the Causal Genes at the Blood Pressure-Associated Locus on Human Chromosome 10q24.32.
Hypertension
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Hypertension
[Esophagogastroimpedancemanometry in diagnosis of gastroesophageal reflux in patients with chemical burns of the stomach]
Hypertension
[Immunocytochemical characterization H2S-positive neurons in the nuclei of bulbar cardiovascular center in the development of renovascular hypertension].
Hypertension
[Immunohistochemical study of H(2)S-positive neurons in some brain structures of people with arterial hypertension].
Hypertension, Renovascular
[Immunocytochemical characterization H2S-positive neurons in the nuclei of bulbar cardiovascular center in the development of renovascular hypertension].
Hyperthyroidism
Altered gene expression of hydrogen sulfide-producing enzymes in the liver and muscles tissues of hyperthyroid rats.
Hyperthyroidism
INFLUENCE OF CHRONIC HYPERHOMOCYSTEINEMIA ON METABOLISM OF SULFUR CONTAINING AMINO ACIDS IN THE RATS' HEART AND BRAIN ON THE BACKGROUND OF HYPERTHYREOSIS AND HYPOTHYREOSIS.
Hyperventilation
The role of hydrogen sulphide in the control of breathing in hypoxic zebrafish (Danio rerio).
Hypoalphalipoproteinemias
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency.
Hypoalphalipoproteinemias
Simvastatin reverses the hypertension of heterozygous mice lacking cystathionine beta-synthase and apolipoprotein A-I.
Hypoglycemia
Neurotrophic Properties, Chemosensory Responses and Neurogenic Niche of the Human Carotid Body.
Hypokalemia
Novel Compound Heterozygous CLCNKB Gene Mutations (c.1755A>G/ c.848_850delTCT) Cause Classic Bartter Syndrome.
Hypokinesia
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
Hypokinesia
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Hypopigmentation
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Hypotension
The cardiovascular effects of central hydrogen sulphide are related to K(ATP) channels activation.
Hypothyroidism
INFLUENCE OF CHRONIC HYPERHOMOCYSTEINEMIA ON METABOLISM OF SULFUR CONTAINING AMINO ACIDS IN THE RATS' HEART AND BRAIN ON THE BACKGROUND OF HYPERTHYREOSIS AND HYPOTHYREOSIS.
Hypothyroidism
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Hypoventilation
Contribution of the Retrotrapezoid Nucleus and Carotid Bodies to Hypercapnia- and Hypoxia-induced Arousal from Sleep.
Infarction, Middle Cerebral Artery
"Zipped Synthesis" by Cross-Metathesis Provides a Cystathionine ?-Synthase Inhibitor that Attenuates Cellular H2S Levels and Reduces Neuronal Infarction in a Rat Ischemic Stroke Model.
Infarction, Middle Cerebral Artery
Cystathionine ?-synthase inhibition is a potential therapeutic approach to treatment of ischemic injury.
Infections
A Medicago truncatula Cystathionine Beta Synthase like domain-containing protein is required for rhizobial infection and symbiotic nitrogen fixation.
Infections
Agrobacterium-mediated transformation of Guignardia citricarpa: an efficient tool to gene transfer and random mutagenesis.
Infections
An antibody to the GM1/GalNAc-GD1a complex correlates with development of pure motor Guillain-Barré syndrome with reversible conduction failure.
Infections
Antibacterial action of bismuth in relation to Campylobacter pyloridis colonization and gastritis.
Infections
Bismuth antimicrobial drugs serve as broad-spectrum metallo-?-lactamase inhibitors.
Infections
Brain abscess formation: a delayed complication of carotid blowout syndrome treated by self-expandable stent-graft.
Infections
Colloid bismuth versus famotidine in the treatment and prevention of duodenal ulcer relapse: results of a double-blind, double dummy randomized study.
Infections
Colloidal bismuth in the treatment of duodenal ulceration: the benefit for the patient.
Infections
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Infections
Equivalent blastocyst rates after freezing murine embryos in Cryo Bio System high security or standard instruments-medicine-veterinarian straws.
Infections
Evaluating the impact of public health notification of suspected transfusion-transmissible hepatitis C virus infection and effectiveness of lookback and traceback investigations by Canadian Blood Services in British Columbia, Canada, August 2002 through February 2005.
Infections
Evaluation of a paper by Guarnaccia et al. (2017) on the first report of Phyllosticta citricarpa in Europe.
Infections
Healing of chronic antral gastritis: effect of sucralfate and colloidal bismuth subcitrate.
Infections
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Infections
Potential distribution of citrus black spot in the United States based on climatic conditions
Infections
Protection against systemic infections with various Candida species elicited by vaccination with Candida albicans ribosomes.
Infections
Spatial and Temporal Genetic Analyses of Phyllosticta citricarpa in Two Lemon Orchards in South Africa Reveal a Role of Asexual Reproduction Within Sexually Reproducing Populations.
Infections
Sweet Orange Fruit Age and Inoculum Concentration Affect the Expression of Citrus Black Spot Symptoms.
Infections
The Role of Individual Carbohydrate-Binding Sites in the Function of the Potent Anti-HIV Lectin Griffithsin.
Infections
Treatment of Campylobacter pylori gastritis: a pilot study using pirenzepine dihydrochloride (Gastrozepin) and three formulations of colloidal bismuth subcitrate (De-Nol).
Infections
Urethral Catheter Biofilms Reveal Plasticity in Bacterial Composition and Metabolism and Withstand Host Immune Defenses in Hypoxic Environment.
Infections
[Animal experiment and cell biology study of Saccharomyces cerevisiae Hansen CBS 5926 in the non-specific enhancement of resistance to infection]
Infections
[Guillain-Barré and Fisher syndromes: update on the pathophysiological role of antiganglioside antibodies].
Infertility
Degenerated panicle and partial sterility 1 (DPS1) encodes a CBS domain containing protein required for anther cuticle and panicle development in rice.
Infertility
Evaluation of the BacT/ALERT 3D system for the implementation of in-house quality control sterility testing at Canadian Blood Services.
Infertility, Female
Cystathionine beta-synthase is essential for female reproductive function.
Infertility, Male
Cystathionine B-Synthase 844ins68 Gene Variant and Idiopathic Male Infertility.
Influenza, Human
Estimation of community-level influenza-associated illness in a low resource rural setting in India.
Influenza, Human
Neutralization positive but apparent false-positive hepatitis B surface antigen in a blood donor following influenza vaccination.
Insomnia, Fatal Familial
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Insulin Resistance
Carotid baroreceptor stimulation in obese rats affects white and brown adipose tissues differently in metabolic protection.
Insulin Resistance
Cystathionine beta synthase-hydrogen sulfide system in paraventricular nucleus reduced high fatty diet induced obesity and insulin resistance by brain-adipose axis.
Insulin Resistance
Exploring the Mediators that Promote Carotid Body Dysfunction in Type 2 Diabetes and Obesity Related Syndromes.
Insulin Resistance
Insulin resistance: A new consequence of altered carotid body chemoreflex?
Intellectual Disability
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Intellectual Disability
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Intellectual Disability
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Intellectual Disability
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Intellectual Disability
Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata.
Intellectual Disability
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Intellectual Disability
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Intellectual Disability
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
Intellectual Disability
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Intellectual Disability
Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death.
Intellectual Disability
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Intellectual Disability
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Intellectual Disability
Reduction of false negative results in screening of newborns for homocystinuria.
Intellectual Disability
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Intellectual Disability
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Intellectual Disability
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Intellectual Disability
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Intestinal Perforation
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Intracranial Aneurysm
Endoscopic Muscle Repair of Right Internal Carotid Artery Rupture Following Endovascular Procedure.
Intracranial Aneurysm
Polymorphisms of homocysteine metabolism are associated with intracranial aneurysms.
Intracranial Thrombosis
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]
Iron Overload
Cystathionine ?-synthase (CBS) deficiency suppresses erythropoiesis by disrupting expression of heme biosynthetic enzymes and transporter.
Irritable Bowel Syndrome
TLR4 upregulates CBS expression through NF-?B activation in a rat model of irritable bowel syndrome with chronic visceral hypersensitivity.
Ischemic Stroke
Clot Burden Score on Baseline Computerized Tomographic Angiography and Intra-Arterial Treatment Effect in Acute Ischemic Stroke.
Ischemic Stroke
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
Ischemic Stroke
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Ischemic Stroke
Peripheral nerve involvement in classic homocystinuria: an unusual association.
Ischemic Stroke
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Ischemic Stroke
Prognostic Value of Clot Burden Score in Acute Ischemic Stroke after Reperfusion Therapies: A Systematic Review and Meta-Analysis.
Ischemic Stroke
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Ischemic Stroke
Similar Outcomes for Contact Aspiration and Stent Retriever Use According to the Admission Clot Burden Score in ASTER.
Ischemic Stroke
The effect of polymorphisms of MTHFR C677T, A1298C, MS A2756G and CBS 844ins68bp on plasma total homocysteine level and the risk of ischemic stroke in Thai children.
Ischemic Stroke
[Genetic mutations of homocysteine metabolism related enzymes in patients with ischemic stroke.]
Keratitis
Synergistic effect of regenerating agent plus cord blood serum eye drops for the treatment of resistant neurotrophic keratitis: a case report and a hypothesis for pathophysiologic mechanism.
Language Disorders
Language Disorder in Progressive Supranuclear Palsy and Corticobasal Syndrome: Neural Correlates and Detection by the MLSE Screening Tool.
Language Disorders
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Language Disorders
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Latent Infection
The Effects of Postharvest Treatments and Sunlight Exposure on the Reproductive Capability and Viability of Phyllosticta citricarpa in Citrus Black Spot Fruit Lesions.
Leiomyoma
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Lens Subluxation
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Lens Subluxation
Intraoperative capsular block syndrome masquerading as expulsive hemorrhage.
Leukemia
CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN.
Leukemia
Cell size and water permeability as determining factors for cell viability after freezing at different cooling rates.
Leukemia
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
Leukemia
Efficient bone marrow transduction by gene transfer with allogeneic umbilical cord blood serum and plasma: an implication for clinical trials.
Leukemia, Megakaryoblastic, Acute
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Inhibition of cystathionine ?-synthase promotes apoptosis and reduces cell proliferation in chronic myeloid leukemia.
Leukemia, Myeloid, Acute
Cystathionine-beta-synthase cDNA transfection alters the sensitivity and metabolism of 1-beta-D-arabinofuranosylcytosine in CCRF-CEM leukemia cells in vitro and in vivo: a model of leukemia in Down syndrome.
Leukemia, Myeloid, Acute
High frequency of the 844ins68 cystathionine-beta-synthase gene variant in Down syndrome children with acute myeloid leukemia.
Leukemia, Myeloid, Acute
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines.
Lewy Body Disease
An autopsy case of corticobasal syndrome with pure diffuse Lewy Body Disease.
Lewy Body Disease
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Lewy Body Disease
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Liver Cirrhosis
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma.
Liver Diseases
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver.
Liver Diseases
Effect of hyperhomocysteinemia on the protein kinase DYRK1A in liver of mice.
Liver Diseases
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Liver Diseases
Elevated plasma homocysteine levels in patients on isotretinoin therapy for cystic acne.
Liver Diseases
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.
Liver Diseases
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Liver Diseases
Plasma homocysteine level is elevated in patients on isotretinoin therapy for cystic acne: a prospective controlled study.
Liver Diseases
The effect of isotretinoin treatment on plasma homocysteine levels in acne vulgaris.
Liver Failure
Analysis of differential neonatal lethality in cystathionine ?-synthase deficient mouse models using metabolic profiling.
Liver Neoplasms
Arsenic trioxide-loaded CalliSpheres: In vitro study of drug release and antitumor activity, and in vivo study of pharmacokinetics, treatment efficacy and safety in liver cancer.
Lung Neoplasms
Contribution of cell blocks obtained through endobronchial ultrasound-guided transbronchial needle aspiration for the determination of lung cancer subtypes.
Lung Neoplasms
Diagnostic utility of cell-block from bronchial washing in pulmonary neoplasms.
Lung Neoplasms
Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina.
Lung Neoplasms
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Lung Neoplasms
Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.
Lung Neoplasms
rpL3 promotes the apoptosis of p53 mutated lung cancer cells by down-regulating CBS and NF?B upon 5-FU treatment.
Lung Neoplasms
Utility of cell blocks obtained by catheter aspiration via a guide sheath during endobronchial ultrasonography.
Lymphatic Metastasis
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Lymphatic Metastasis
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Lymphatic Metastasis
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Lymphoma, Non-Hodgkin
Benefits of a combined approach to sampling of renal neoplasms as demonstrated in a series of 351 cases.
Lymphoma, Non-Hodgkin
Polymorphisms in folate-metabolizing genes and risk of non-Hodgkin's lymphoma.
Macular Degeneration
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Macular Degeneration
Perceived color of hallucinations in the Charles Bonnet Syndrome is related to residual color contrast sensitivity.
Macular Degeneration
The prevalence and clinical characteristics of Charles Bonnet Syndrome in Danish patients with neovascular age-related macular degeneration.
Macular Degeneration
Visual loss and visual hallucinations in patients with age-related macular degeneration (Charles Bonnet syndrome).
Macular Degeneration
What associates Charles Bonnet syndrome with age-related macular degeneration?
Macular Degeneration
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
Malaria
Driving towards malaria elimination in Botswana by 2018: progress on case-based surveillance, 2013-2014.
Malaria
Enhanced detection of gametocytes by magnetic deposition microscopy predicts higher potential for Plasmodium falciparum transmission.
Malaria
Possible selection of host folate pathway gene polymorphisms in patients with malaria from a malaria endemic region in North East India.
Malnutrition
Humanitarian led community-based surveillance: case study in Ekondo-titi, Cameroon.
Maple Syrup Urine Disease
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Marfan Syndrome
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
Marfan Syndrome
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Memory Disorders
Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a.
Meningioma
Polymorphisms of methionine metabolism and susceptibility to meningioma formation: laboratory investigation.
Meningomyelocele
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
Meningomyelocele
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Meningomyelocele
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
Mesothelioma, Malignant
Distinguishing benign from malignant mesothelial cells in effusions by Glut-1, EMA, and Desmin expression: an evidence-based approach.
Metabolic Diseases
Enzyme replacement with PEGylated cystathionine ?-synthase ameliorates homocystinuria in murine model.
Metabolic Diseases
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and raman spectroscopy.
Metabolic Diseases
High fat diet blunts the effects of leptin on ventilation and on carotid body activity.
Metabolic Diseases
In vitro effect of homocysteine on some parameters of oxidative stress in rat hippocampus.
Metabolic Diseases
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
Metabolism, Inborn Errors
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Newborn screening for homocystinurias: recent recommendations versus current practice.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Newborn screening for homocystinurias: Recent recommendations versus current practice.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
The Effect of in Vitro Homocystinuria on the Suckling Rat Hippocampal Acetylcholinesterase.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Treatment of inherited homocystinurias.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
[Cystathionine betasynthase and MTHFR deficiencies in adults]
Migraine Disorders
Non-vascular action of calcium blockers in migraine: pupillopharmacological study.
Migraine Disorders
What associates Charles Bonnet syndrome with age-related macular degeneration?
Motor Neuron Disease
Neuropathological background of phenotypical variability in frontotemporal dementia.
Motor Neuron Disease
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
Motor Neuron Disease
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Mouth Neoplasms
Polymorphisms in methylenetetrahydrofolate reductase and cystathionine beta-synthase in oral cancer - a case-control study in southeastern Brazilians.
Movement Disorders
Alzheimer's disease and corticobasal degeneration presenting as corticobasal syndrome.
Movement Disorders
Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome.
Movement Disorders
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Movement Disorders
Olfactory function in corticobasal syndrome and frontotemporal dementia.
Movement Disorders
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.
Multiple Endocrine Neoplasia Type 2b
Acute Life-Threatening Hemorrhage in Patients with Head and Neck Cancer Presenting with Carotid Blowout Syndrome: Follow-Up Results after Initial Hemostasis with Covered-Stent Placement.
Multiple Myeloma
A Genome-Wide Association Study Identifies a Novel Locus for Bortezomib-Induced Peripheral Neuropathy in European Patients with Multiple Myeloma.
Multiple System Atrophy
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Multiple System Atrophy
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Muscle Weakness
Triple-stimulation technique in multifocal neuropathy with conduction block.
Muscular Atrophy
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Muscular Atrophy, Spinal
Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis.
Muscular Diseases
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Muscular Diseases
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Mycoses
Comparison of modified Chicago sky blue stain and potassium hydroxide mount for the diagnosis of dermatomycoses and onychomycoses.
Myocardial Infarction
Carotid Baroreceptor Stimulation Prevents Arrhythmias Induced by Acute Myocardial Infarction through Autonomic Modulation.
Myocardial Infarction
Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.
Myocardial Infarction
Homocysteine thiolactone disposal by human arterial endothelial cells and serum in vitro.
Myocardial Infarction
Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans.
Myocardial Infarction
Polymorphisms in MTHFR, MS and CBS genes and premature acute myocardial infarction in a Pakistani population.
Myocardial Infarction
[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]
Myoclonus
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria.
Myoclonus
Best Practices in the Clinical Management of Progressive Supranuclear Palsy and Corticobasal Syndrome: A Consensus Statement of the CurePSP Centers of Care.
Myoclonus
FDG-PET Patterns Predict Amyloid Deposition and Clinical Profile in Corticobasal Syndrome.
Myoma
A multicenter study comparing surgical outcomes and ultrasonographic evaluation of scarring after laparoscopic myomectomy with conventional versus barbed sutures.
Myopia
Cystathionine ?-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanogaster.
Myopia
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ?-Synthase Deficiency.
Myositis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Myositis, Inclusion Body
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Myotonia
CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones).
Myotonic Dystrophy
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Nasopharyngeal Carcinoma
Carotid blowout syndrome after nasopharyngeal carcinoma radiotherapy: successful treatment by internal carotid artery occlusion after stent implantation failure.
Nasopharyngeal Carcinoma
Carotid blowout syndrome with oronasal hemorrhage: magnetic resonance imaging findings.
Nasopharyngeal Carcinoma
Fatal bleeding in a nasopharyngeal carcinoma patient after concurrent chemoradiation plus cetuximab: a case report.
Nasopharyngeal Neoplasms
Flow-diverter in radiation-induced skull base carotid blowout syndrome: do not write it off!
Neoplasm Metastasis
Central bisegmentectomy for malignant liver tumors: experience in 8 patients.
Neoplasm Metastasis
Characterization of the small RNA transcriptomes of cell protrusions and cell bodies of highly metastatic hepatocellular carcinoma cells via RNA sequencing.
Neoplasm Metastasis
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Neoplasm Metastasis
Combination of curcuma zedoary and kelp inhibits growth and metastasis of liver cancer in vivo and in vitro via reducing endogenous H2S levels.
Neoplasm Metastasis
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Neoplasm Metastasis
Hydrogen sulfide modulates epithelial-mesenchymal transition and angiogenesis in non-small cell lung cancer via HIF-1? activation.
Neoplasm Metastasis
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Neoplasm Metastasis
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Neoplasm Metastasis
Oncologic Outcome of Endoscopic Assisted Breast Surgery Compared with Conventional Approach in Breast Cancer: An Analysis of 3426 Primary Operable Breast Cancer Patients from Single Institute with and Without Propensity Score Matching.
Neoplasm Metastasis
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Neoplasm Metastasis
The role of transforming growth factor-beta in suppression of hepatic metastasis from colon cancer.
Neoplasm Metastasis
Transforming growth factor-ß suppresses metastasis in a subset of human colon carcinoma cells.
Neoplasms
"She Would Be Flailing Around Distressed": The Critical Role of Home-Based Palliative Care for Patients with Advanced Cancer.
Neoplasms
A multicenter study comparing surgical outcomes and ultrasonographic evaluation of scarring after laparoscopic myomectomy with conventional versus barbed sutures.
Neoplasms
A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability.
Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Neoplasms
Anti-cancer activity of Conyza blinii saponin against cervical carcinoma through MAPK/TGF-?/Nrf2 signaling pathways.
Neoplasms
Arsenic trioxide-loaded CalliSpheres: In vitro study of drug release and antitumor activity, and in vivo study of pharmacokinetics, treatment efficacy and safety in liver cancer.
Neoplasms
Assessment of Programmed Death-Ligand 1 (PD-L1) Immunohistochemical Expression on Cytology Specimens in Non-Small Cell Lung Carcinoma: A Comparative Study With Paired Surgical Specimens.
Neoplasms
Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.
Neoplasms
Brain abscess formation: a delayed complication of carotid blowout syndrome treated by self-expandable stent-graft.
Neoplasms
Bright-field HER2 dual in situ hybridization (DISH) assay on breast cancer cell blocks: a comparative study with histological sections.
Neoplasms
Cannabinoids prevent the opposite regulation of astroglial connexin43 hemichannels and gap junction channels induced by pro-inflammatory treatments.
Neoplasms
Carotid blowout syndrome in patients with head-and-neck cancers: reconstructive management by self-expandable stent-grafts.
Neoplasms
Cell block as an adjunct to conventional Papanicolaou smear for diagnosis of cervical cancer in resource-limited settings.
Neoplasms
Cell blocks in cytopathology: a review of preparative methods, utility in diagnosis and role in ancillary studies.
Neoplasms
Cellular responses to TGF? and TGF? receptor expression in human colonic epithelial cells require CaSR expression and function.
Neoplasms
Clinical Significance of CBS and CCL21 in Gallbladder Adenocarcinomas and Squamous Cell/Adenosquamous Carcinomas.
Neoplasms
Coilin phosphomutants disrupt Cajal body formation, reduce cell proliferation and produce a distinct coilin degradation product.
Neoplasms
Comparing Local TV News with National TV News in Cancer Coverage: An Exploratory Content Analysis.
Neoplasms
Comparison of Anti-Inflammatory Effects of Flavonoid-Rich Common and Tartary Buckwheat Sprout Extracts in Lipopolysaccharide-Stimulated RAW 264.7 and Peritoneal Macrophages.
Neoplasms
Comparison of efficacy of cell block versus conventional smear study in exudative fluids.
Neoplasms
Comparison of gene expression profiles in core biopsies and corresponding surgical breast cancer samples.
Neoplasms
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Neoplasms
Crystal Structures of Cystathionine ?-Synthase from Saccharomyces cerevisiae: One Enzymatic Step at a Time.
Neoplasms
Custom-made hydroxyapatite for cranial repair in a specific pediatric age group (7-13 years old): a multicenter post-marketing surveillance study.
Neoplasms
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Neoplasms
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Neoplasms
Dandelion root extract affects ESCC progression via regulating multiple signal pathways.
Neoplasms
Delayed extrusion of embolic coils into the airway after embolization of an external carotid artery pseudoaneurysm.
Neoplasms
Detection of Prostate Cancer: Quantitative Multiparametric MR Imaging Models Developed Using Registered Correlative Histopathology.
Neoplasms
Differential diagnosis of mesenchymal neoplasms of the digestive tract by cell block and immunohistochemistry.
Neoplasms
Discovery of selective cystathionine ?-synthase inhibitors by high-throughput screening with a fluorescent thiol probe.
Neoplasms
DNA hypomethylation of CBS promoter induced by folate deficiency is a potential noninvasive circulating biomarker for colorectal adenocarcinomas.
Neoplasms
DNA methylome profiling identifies novel methylated genes in epithelial ovarian cancer patients with platinum resistance.
Neoplasms
DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
Neoplasms
DOG1, p63, and S100 protein: a novel immunohistochemical panel in the differential diagnosis of oncocytic salivary gland neoplasms in fine-needle aspiration cell blocks.
Neoplasms
Effect of cystathionine beta-synthase variant 844ins68bp and methylenetetrahydrofolate reductase A1298C polymorphisms in xenografts on 5-FU efficacy and doubling time.
Neoplasms
Effects of cannabinoids and related fatty acids upon the viability of P19 embryonal carcinoma cells.
Neoplasms
Effects of novel and conventional anti-cancer agents on human endothelial permeability: influence of tumour secreted factors.
Neoplasms
Efficacy of Novel Aminooxyacetic Acid Prodrugs in Colon Cancer Models: Towards Clinical Translation of the Cystathionine ?-Synthase Inhibition Concept.
Neoplasms
Endocannabinoid system as a regulator of tumor cell malignancy - biological pathways and clinical significance.
Neoplasms
Endovascular management of carotid blowout syndrome in patients with head and neck cancers.
Neoplasms
Evaluating Mismatch Repair/Microsatellite Instability Status Using Cytology Effusion Specimens to Determine Eligibility for Immunotherapy.
Neoplasms
Evaluation of cell blocks from effusion specimens in Gynecologic Oncopathology: An experience of 220 cases, diagnosed at a Tertiary Cancer Referral Center.
Neoplasms
Expression of cystathionine beta-synthase is downregulated in hepatocellular carcinoma and associated with poor prognosis.
Neoplasms
Expression profiling of homocysteine junction enzymes in the NCI60 panel of human cancer cell lines.
Neoplasms
Folate Receptor Alpha Immunohistochemistry in Cytology Specimens of Metastatic Breast Carcinoma.
Neoplasms
Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study.
Neoplasms
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.
Neoplasms
Grading pancreatic neuroendocrine neoplasms by Ki-67 staining on cytology cell blocks: manual count and digital image analysis of 58 cases.
Neoplasms
Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-?-synthase.
Neoplasms
HER 2 immunohistochemistry for breast cancer cell blocks can be used in the same way as that used for histological specimens.
Neoplasms
HER2 assessment by bright-field dual in situ hybridization in cell blocks of recurrent and metastatic breast carcinoma.
Neoplasms
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Neoplasms
Hydrogen sulfide modulates epithelial-mesenchymal transition and angiogenesis in non-small cell lung cancer via HIF-1? activation.
Neoplasms
Identification of novel cellular targets in biliary tract cancers using global gene expression technology.
Neoplasms
Identification of novel HMGA2 fusion sequences in lipoma: Evidence that deletion of let-7 miRNA consensus binding site 1 in the HMGA2 3' UTR is not critical for HMGA2 transcriptional upregulation.
Neoplasms
In vivo analysis of insulin-like growth factor type 1 receptor humanized monoclonal antibody MK-0646 and small molecule kinase inhibitor OSI-906 in colorectal cancer.
Neoplasms
Increased expression of cystathionine beta-synthase and chemokine ligand 21 is closely associated with poor prognosis in extrahepatic cholangiocarcinoma.
Neoplasms
Increased Nicotinamide Phosphoribosyltransferase and Cystathionine-?-Synthase in Renal Oncocytomas, Renal Urothelial Carcinoma, and Renal Clear Cell Carcinoma.
Neoplasms
Inhibiting androgen receptor nuclear entry in castration-resistant prostate cancer.
Neoplasms
Inhibition of cystathionine ?-synthase promotes apoptosis and reduces cell proliferation in chronic myeloid leukemia.
Neoplasms
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Neoplasms
Low CBS expression can identify patients who benefit from adjuvant chemotherapy in gastric cancer.
Neoplasms
Mapping of DNA Hypermethylation and Hypomethylation induced by Folate Deficiency in Sporadic Colorectal Cancer and Clinical Implication Analysis of Hypermethylation Pattern in CBS Promoter.
Neoplasms
Mechanism of cystathionine-?-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).
Neoplasms
Mutation hotspots at CTCF binding sites coupled to chromosomal instability in gastrointestinal cancers.
Neoplasms
Outcome of carotid and subclavian blowout syndrome in patients with pharynx- and larynx carcinoma passing a standardized multidisciplinary treatment.
Neoplasms
Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder.
Neoplasms
Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review.
Neoplasms
Polymorphisms in methionine synthase (A2756G) and cystathionine beta-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract.
Neoplasms
Potential role of the 3-mercaptopyruvate sulfurtransferase (3-MST)-hydrogen sulfide (H2S) pathway in cancer cells.
Neoplasms
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Neoplasms
Pros and Cons of the Cannabinoid System in Cancer: Focus on Hematological Malignancies.
Neoplasms
Protective Effect of Calculus Bovis Sativus on Dextran Sulphate Sodium-Induced Ulcerative Colitis in Mice.
Neoplasms
Quantitative assessment of p16 expression in FNA specimens from head and neck squamous cell carcinoma and correlation with HPV status.
Neoplasms
Randomized controlled trial of a brief cognitive-behavioral strategies intervention for the pain, fatigue, and sleep disturbance symptom cluster in advanced cancer.
Neoplasms
Regulation of Mitochondrial Bioenergetic Function by Hydrogen Sulfide. Part II. Pathophysiological and Therapeutic Aspects.
Neoplasms
Relationship between the Methylation of Folic Acid Metabolism-Related Genes and the Incidence and Prognosis of Esophageal Cancer among Ethnic Kazakhs.
Neoplasms
Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation, Migration, and Bioenergetics in Murine Colon Cancer Cells.
Neoplasms
Saponin fraction isolated from Conyza blinii H.Lév. demonstrates strong anti-cancer activity that is due to its NF-?B inhibition.
Neoplasms
Screening of a composite library of clinically used drugs and well-characterized pharmacological compounds for cystathionine ?-synthase inhibition identifies benserazide as a drug potentially suitable for repurposing for the experimental therapy of colon cancer.
Neoplasms
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
Neoplasms
The association between the 844ins68 polymorphism in the CBS gene and breast cancer.
Neoplasms
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens.
Neoplasms
The diagnostic value of cell block as an adjunct to liquid-based cytology of bronchial washing specimens in the diagnosis and subclassification of pulmonary neoplasms.
Neoplasms
The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
Neoplasms
The Therapeutic Potential of Cystathionine ?-Synthetase/Hydrogen Sulfide Inhibition in Cancer.
Neoplasms
The value of cell block based on fine needle aspiration for lung cancer diagnosis.
Neoplasms
Tumor necrosis factor-alpha-induced targeted proteolysis of cystathionine beta-synthase modulates redox homeostasis.
Neoplasms
Tumor-derived hydrogen sulfide, produced by cystathionine-?-synthase, stimulates bioenergetics, cell proliferation, and angiogenesis in colon cancer.
Neoplasms
Use of ultrasound-guided axillary node core biopsy in staging of early breast cancer.
Neoplasms
[Differential gene expression in nasopharyngeal carcinoma cell with reduced and normal expression of 6A8 alpha-mannosidase]
Nephrolithiasis
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
Nephrolithiasis
CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones).
Nervous System Diseases
What associates Charles Bonnet syndrome with age-related macular degeneration?
Neural Tube Defects
Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects.
Neural Tube Defects
Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.
Neural Tube Defects
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria.
Neural Tube Defects
Polymorphisms of 5,10-Methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Concerning the article by Houcher et al., Pediatr Neurosurg 2009;45:472-477.
Neural Tube Defects
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
Neural Tube Defects
Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India.
Neural Tube Defects
[Study on genotypes of cystathionine beta-synthase in neural tube defects]
Neuralgia
Antinociceptive effects of oleuropein in experimental models of neuropathic pain in male rats.
Neuralgia
Beneficial effects of octreotide in alcohol-induced neuropathic pain. Role of H 2S, BDNF, TNF-? and Nrf2.
Neuralgia
Endogenous CBS-H2S Pathway Contributes to the Development of CCI-Induced Neuropathic Pain.
Neurobehavioral Manifestations
Personality Assessment Inventory Cognitive Bias Scale: Validation in a Military Sample.
Neuroblastoma
An evidence-based recommendation for a standardized approach to detecting metastatic neuroblastoma in staging bone marrow biopsies.
Neuroblastoma
An Evidence-based Recommendation for a Standardized Approach to Detecting Metastatic Neuroblastoma in Staging Bone Marrow Biopsies.
Neuroblastoma
Detoxification of methylmercury by hydrogen sulfide-producing enzyme in Mammalian cells.
Neuroblastoma
Hydrogen sulfide generation from l-cysteine in the human glioblastoma-astrocytoma U-87 MG and neuroblastoma SHSY5Y cell lines.
Neuroblastoma
The SMN Protein is a Key Regulator of Nuclear Architecture in Differentiating Neuroblastoma Cells.
Neurodegenerative Diseases
A colorimetric and ratiometric fluorescent probe for the imaging of endogenous hydrogen sulphide in living cells and sulphide determination in mouse hippocampus.
Neurodegenerative Diseases
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Neurodegenerative Diseases
Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of "vascular CBS".
Neurodegenerative Diseases
Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers.
Neurodegenerative Diseases
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Neurodegenerative Diseases
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus.
Neurodegenerative Diseases
Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?
Neurodegenerative Diseases
Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-?-synthase.
Neurodegenerative Diseases
Homocysteine-lowering gene therapy rescues signaling pathways in brain of mice with intermediate hyperhomocysteinemia.
Neurodegenerative Diseases
Microglia activation states and cannabinoid system: Therapeutic implications.
Neurodegenerative Diseases
Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome.
Neurodegenerative Diseases
The Impact of Coilin Nonsynonymous SNP Variants E121K and V145I on Cell Growth and Cajal Body Formation: The First Characterization.
Neurodegenerative Diseases
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
Neurodegenerative Diseases
The phenotypical core of Alzheimer-related and nonrelated variants of the corticobasal syndrome: A systematic clinical, neuropsychological, imaging, and biomarker study.
Neuroectodermal Tumors, Primitive
Insulinoma-associated protein 1 (INSM1) is a robust marker for identifying and grading pancreatic neuroendocrine tumors.
Neuroendocrine Tumors
Orthopedia homeobox protein (OTP) is a sensitive and specific marker for primary pulmonary carcinoid tumors in cytologic and surgical specimens.
Neuroinflammatory Diseases
Beneficial effects of octreotide in alcohol-induced neuropathic pain. Role of H 2S, BDNF, TNF-? and Nrf2.
Neuroinflammatory Diseases
Neutrophil-to-lymphocyte ratio (NLR) at boundaries of Progressive Supranuclear Palsy Syndrome (PSPS) and Corticobasal Syndrome (CBS).
Niemann-Pick Disease, Type C
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Niemann-Pick Diseases
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Non-alcoholic Fatty Liver Disease
Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease.
Non-alcoholic Fatty Liver Disease
Exendin-4 regulates redox homeostasis in rats fed with high-fat diet.
Non-alcoholic Fatty Liver Disease
Hepatoprotective effect of calculus bovis sativus on nonalcoholic fatty liver disease in mice by inhibiting oxidative stress and apoptosis of hepatocytes.
Obesity
Altered glutathione homeostasis in heart augments cardiac lipotoxicity associated with diet-induced obesity in mice.
Obesity
Are genetic variants of the methyl group metabolism enzymes risk factors predisposing to obesity?
Obesity
Carotid baroreceptor stimulation in obese rats affects white and brown adipose tissues differently in metabolic protection.
Obesity
Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents.
Obesity
Specific downregulation of cystathionine ?-synthase expression in the kidney during obesity.
Olfaction Disorders
Olfactory function in corticobasal syndrome and frontotemporal dementia.
Ophthalmoplegia
Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome.
Osteoporosis
An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens.
Osteoporosis
Association of Hydrogen Sulfide with Femoral Bone Mineral Density in Osteoporosis Patients: A Preliminary Study.
Osteoporosis
Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.
Osteoporosis
Reduction of false negative results in screening of newborns for homocystinuria.
Osteoporosis
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Osteoporosis
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Osteoradionecrosis
Post-irradiated carotid blowout syndrome in patients with nasopharyngeal carcinoma: A Case-control study.
Otitis Externa
Absence of DNA sequence diversity of the intergenic spacer 1 region in Malassezia nana isolates from cats.
Ovarian Neoplasms
A Review of Hydrogen Sulfide Synthesis, Metabolism, and Measurement: Is Modulation of Hydrogen Sulfide a Novel Therapeutic for Cancer?
Ovarian Neoplasms
Carbon monoxide sensitizes cisplatin-resistant ovarian cancer cell lines toward cisplatin via attenuation of levels of glutathione and nuclear metallothionein.
Ovarian Neoplasms
Cystathionine beta-synthase (CBS) contributes to advanced ovarian cancer progression and drug resistance.
Ovarian Neoplasms
Role of cystathionine beta synthase in lipid metabolism in ovarian cancer.
Ovarian Neoplasms
Targeting Glutathione and Cystathionine ?-Synthase in Ovarian Cancer Treatment by Selenium-Chrysin Polyurea Dendrimer Nanoformulation.
Pancreatic Neoplasms
Cannabinoid derivatives induce cell death in pancreatic MIA PaCa-2 cells via a receptor-independent mechanism.
Pancreatitis
Acute biliary pancreatitis: detection of common bile duct stones with endoscopic ultrasound.
Pancytopenia
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency.
Paralysis
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Paralysis
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Paralysis
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Paralysis
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Paralysis
Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes.
Paralysis
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Paralysis
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Paralysis
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Paralysis
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Paralysis
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Paralysis
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
Paralysis
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Paresis
Crossed brainstem syndrome revealing bleeding brainstem cavernous malformation: an illustrative case.
Parkinson Disease
A ratiometric two-photon fluorescent probe reveals reduction in mitochondrial H2S production in Parkinson's disease gene knockout astrocytes.
Parkinson Disease
Cognition in corticobasal syndrome and progressive supranuclear palsy: a review.
Parkinson Disease
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Parkinson Disease
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Parkinson Disease
Dentatorubrothalamic tract reduction using fixel-based analysis in corticobasal syndrome.
Parkinson Disease
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease.
Parkinson Disease
FP-CIT- and IBZM-SPECT in Corticobasal Syndrome: Results from a Clinical Follow-Up Study.
Parkinson Disease
Impairment of intermediate somatosensory function in corticobasal syndrome.
Parkinson Disease
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Parkinson Disease
Neuroprotective effects of lentivirus-mediated cystathionine-beta-synthase overexpression against 6-OHDA-induced parkinson's disease rats.
Parkinson Disease
What associates Charles Bonnet syndrome with age-related macular degeneration?
Parkinsonian Disorders
A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.
Parkinsonian Disorders
Atypical parkinsonian syndromes in a North African tertiary referral center.
Parkinsonian Disorders
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
Parkinsonian Disorders
Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome.
Parkinsonian Disorders
Corticobasal degeneration: advances in clinicopathology and biomarkers.
Parkinsonian Disorders
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.
Parkinsonian Disorders
Differential diagnosis of parkinsonian syndromes using F-18 fluorodeoxyglucose positron emission tomography.
Parkinsonian Disorders
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Parkinsonian Disorders
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease.
Parkinsonian Disorders
Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.
Parkinsonian Disorders
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Parkinsonian Disorders
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Parkinsonian Disorders
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
Parkinsonian Disorders
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Parkinsonian Disorders
Presynaptic striatal dopaminergic function in atypical parkinsonisms: A meta-analysis of imaging studies.
Parkinsonian Disorders
Primary motor cortex LTP/LTD-like plasticity in probable corticobasal syndrome.
Parkinsonian Disorders
Scan without evidence of dopaminergic deficit (SWEDD) in degenerative parkinsonism and dementia with Lewy bodies: A prospective study.
Parkinsonian Disorders
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Parkinsonian Disorders
[A Case of Corticobasal Syndrome Complicated with Hypopituitarism and Hashimoto's Disease].
Pediatric Obesity
Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents.
Peptic Ulcer
Colloidal bismuth subcitrate. A review of its pharmacodynamic and pharmacokinetic properties, and its therapeutic use in peptic ulcer disease.
Peptic Ulcer
Is eradication of Helicobacter pylori with colloidal bismuth subcitrate quadruple therapy safe?
peptidyl-glutamate 4-carboxylase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Perceptual Disorders
Comparison of the Behavioural Inattention Test and the Catherine Bergego Scale in assessment of hemispatial neglect.
Pericardial Effusion
[Experience with capecitabine in patients with anthracycline and/or taxane-resistant recurrent breast cancer]
Peripheral Nervous System Diseases
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Peroneal Neuropathies
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Phenylketonurias
Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria.
Pick Disease of the Brain
An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome.
Pleural Effusion
[Experience with capecitabine in patients with anthracycline and/or taxane-resistant recurrent breast cancer]
Pneumonia, Aspiration
Ruptured extracranial carotid artery: Endovascular treatment with covered stent graft.
Polymyositis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Polyneuropathies
Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22.
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Porphyrias, Hepatic
Multiple roles of haem in cystathionine ?-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.
Pre-Eclampsia
Genetic susceptibility to preeclampsia: roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase, and factor V Leiden mutation.
Primary Progressive Nonfluent Aphasia
Screening for Cognitive Dysfunction in Corticobasal Syndrome: Utility of Addenbrooke's Cognitive Examination.
Propionic Acidemia
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Prostatic Neoplasms
Detection of Prostate Cancer: Quantitative Multiparametric MR Imaging Models Developed Using Registered Correlative Histopathology.
Prostatic Neoplasms
Expression profiling of homocysteine junction enzymes in the NCI60 panel of human cancer cell lines.
Prostatic Neoplasms
Testosterone regulation of homocysteine metabolism modulates redox status in human prostate cancer cells.
Pseudarthrosis
The spectrum of tibial pseudarthrosis with constriction band syndrome in children.
Pulmonary Embolism
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Pulmonary Fibrosis
Loss of the Protein Cystathionine ?-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis.
Pulmonary Fibrosis
ROCK inhibitor attenuates carbon blacks-induced pulmonary fibrosis in mice via Rho/ROCK/NF-kappa B pathway.
Pythiosis
Data on whole genome sequencing of the oomycete Pythium insidiosum strain CBS 101555 from a horse with pythiosis in Brazil.
Quadriplegia
Motor neuropathy with proximal multifocal persistent conduction block, fasciculations and myokymia. Evolution to tetraplegia.
REM Sleep Behavior Disorder
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Renal Artery Obstruction
Rupture of the renal artery after cutting balloon angioplasty in a young woman with fibromuscular dysplasia.
Renal Insufficiency, Chronic
Loss of the Protein Cystathionine ?-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis.
Reperfusion Injury
Dynamic change of hydrogen sulfide during global cerebral ischemia-reperfusion and its effect in rats.
Reperfusion Injury
miR-191 secreted by platelet-derived microvesicles induced apoptosis of renal tubular epithelial cells and participated in renal ischemia-reperfusion injury via inhibiting CBS.
Retinal Degeneration
Comparative localization of cystathionine beta synthases and cystathionine gamma lyase in canine, non-human primate and human retina.
Retinal Detachment
Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-beta-synthetase deficiency.
Retinal Detachment
Transient formed visual hallucinations following macular translocation for subfoveal choroidal neovascularization secondary to age-related macular degeneration.
Retinal Diseases
The Prevalence and Characteristics of Charles Bonnet Syndrome in Turkish Patients with Retinal Disease.
Retinoblastoma
Autocrine transforming growth factor-beta (TGF beta) modulates the 120 kD and 105 kD retinoblastoma (RB) protein species in CBS colon carcinoma cells as revealed by an anti-sense TGF beta 1 expression vector.
Retinoblastoma
High trefoil factor 1 (TFF1) expression in human retinoblastoma cells correlates with low growth kinetics, increased cyclin-dependent kinase (CDK) inhibitor levels and a selective down-regulation of CDK6.
Salivary Gland Neoplasms
DOG1, p63, and S100 protein: a novel immunohistochemical panel in the differential diagnosis of oncocytic salivary gland neoplasms in fine-needle aspiration cell blocks.
Sarcoidosis
Study of some components of the cytoskeleton in muscular disorders with nonspecific cytoplasmic bodies.
Sarcoma
Molecular testing guidelines for lung adenocarcinoma: Utility of cell blocks and concordance between fine-needle aspiration cytology and histology samples.
Schistosomiasis
[Distribution Characteristics and Potential Risk of CBs in Aquatic Organisms from Typical Epidemic Areas of Schistosomiasis Prevalence].
Scleritis
A randomised double blind trial comparing the treatment of episcleritis with topical 2-(2-Hydroxy-4-methylphenyl) Aminothiazole Hydrochloride 0.1% (CBS 113A) and placebo.
Seizures
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Seizures
Charles Bonnet Syndrome in a Patient With Right Medial Occipital Lobe Infarction: Epileptic or Deafferentation Phenomenon?
Seizures
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia.
Seizures
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
Seizures
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Seizures
[Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria]
Seizures, Febrile
[Alteration of hydrogen sulfide/cystathionine-beta-synthase system in rats with recurrent febrile seizures]
Seizures, Febrile
[Gamma-aminobutyric acid B receptor regulates the expression of hydrogen sulfide / cystathionine-beta-synthase system in recurrent febrile seizures.]
Sepsis
Hydrogen sulfide prevents diaphragm weakness in cecal ligation puncture-induced sepsis by preservation of mitochondrial function.
Sepsis
Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis.
Severe Combined Immunodeficiency
Cystathionine ?-synthase mediated PRRX2/IL-6/STAT3 inactivation suppresses Tregs infiltration and induces apoptosis to inhibit HCC carcinogenesis.
Sinus Thrombosis, Intracranial
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Sinus Thrombosis, Intracranial
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Sleep Deprivation
What associates Charles Bonnet syndrome with age-related macular degeneration?
Sleep Initiation and Maintenance Disorders
Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.
Small Cell Lung Carcinoma
CytoLyt fixation significantly inhibits MIB1 immunoreactivity whereas alternative Ki-67 clone 30-9 is not susceptible to the inhibition: Critical diagnostic implications.
Small Cell Lung Carcinoma
Insulinoma-associated protein 1 is a sensitive and specific marker for lung neuroendocrine tumors in cytologic and surgical specimens.
Smooth Muscle Tumor
Proliferative effects of estradiol, progesterone, and two CB congeners and their metabolites on gray seal (Halichoerus grypus) uterine myocytes in vitro.
Spinal Cord Injuries
Psychometric properties of Persian version of the Caregiver Burden Scale in Iranian caregivers of patients with spinal cord injury.
Spinal Dysraphism
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Spinal Dysraphism
5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.
Squamous Cell Carcinoma of Head and Neck
Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.
Squamous Cell Carcinoma of Head and Neck
Chemoradiation and local recurrence of head and neck squamous cell carcinoma and the risk of carotid artery blowout.
Squamous Cell Carcinoma of Head and Neck
Evaluation of programmed death ligand 1 expression in cytology to determine eligibility for immune checkpoint inhibitor therapy in patients with head and neck squamous cell carcinoma.
Squamous Cell Carcinoma of Head and Neck
p16 immunostaining in fine-needle aspirations of the head and neck: determining the optimal positivity threshold in HPV-related squamous cell cancer.
Squamous Cell Carcinoma of Head and Neck
Prognostic value of circulating biomarker score in advanced-stage head and neck squamous cell carcinoma.
Squamous Cell Carcinoma of Head and Neck
Quantitative assessment of p16 expression in FNA specimens from head and neck squamous cell carcinoma and correlation with HPV status.
Squamous Cell Carcinoma of Head and Neck
The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.
Stargardt Disease
Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors.
Starvation
Immunocytochemical analysis of the coiled body in the cell cycle and during cell proliferation.
Starvation
Physiological effects of nitrogen starvation in an anaerobic batch culture of Saccharomyces cerevisiae.
Stillbirth
Effectiveness of community-based support for pregnant women living with HIV: a cohort study in South Africa.
Stillbirth
[Discrepancy between results of registration of perinatal cause of death by the CBS (Central Bureau of Statistics) and by personal studies in the Delft-Westland-Oostland region]
Stomach Neoplasms
Author Correction: Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Stomach Neoplasms
Highly recurrent CBS epimutations in gastric cancer CpG island methylator phenotypes and inflammation.
Stomach Neoplasms
Inhibition of endogenous hydrogen sulfide biosynthesis enhances the anti-cancer effect of 3,3'-diindolylmethane in human gastric cancer cells.
Stomach Neoplasms
Low CBS expression can identify patients who benefit from adjuvant chemotherapy in gastric cancer.
Stomach Ulcer
A potential mechanism of action of colloidal bismuth subcitrate: diffusion barrier to hydrochloric acid.
Stomach Ulcer
Colloidal bismuth subcitrate and ranitidine in the short-term treatment of benign gastric ulcer. An endoscopically controlled trial.
Stomach Ulcer
Cure of peptic gastric ulcer associated with eradication of Helicobacter pylori. Finnish Gastric Ulcer Study Group.
Stroke
A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.
Stroke
A novel multilocus genotyping assay to identify genetic predictors of stroke in sickle cell anaemia.
Stroke
Behavioral Assessment of Unilateral Spatial Neglect with the Catherine Bergego Scale (CBS) Using the Kessler Foundation Neglect Assessment Process (KF-NAP) in Patients with Subacute Stroke during Rehabilitation in Japan.
Stroke
Cyclogram based Joint Symmetry Assessment after Utilization of a Foot Drop Stimulator during Post Stroke Hemiplegic Gait.
Stroke
Cystathionine ?-synthase inhibition is a potential therapeutic approach to treatment of ischemic injury.
Stroke
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Stroke
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
Stroke
Eyetracking during free visual exploration detects neglect more reliably than paper-pencil tests.
Stroke
How We Assess Spatial Neglect Matters: Prevalence of Spatial Neglect as Measured by the Catherine Bergego Scale and Impact on Rehabilitation Outcomes.
Stroke
Hydrogen-rich saline ameliorates hippocampal neuron apoptosis through up-regulating the expression of cystathionine ?-synthase (CBS) after cerebral ischemia- reperfusion in rats.
Stroke
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Stroke
Middle cerebral artery thrombus susceptibility-weighted imaging mapping predicts prognosis.
Stroke
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Stroke
Preliminary experience with endovascular reconstruction for the management of carotid blowout syndrome.
Stroke
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Stroke
Right as well as left unilateral spatial neglect influences rehabilitation outcomes and its recovery is important for determining discharge destination in subacute stroke patients.
Stroke
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Stroke
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.
Stroke
The association of Cystathionine ? Synthase (CBS) T833C polymorphism and the risk of stroke: a meta-analysis.
Stroke
The clot burden score, the Boston Acute Stroke Imaging Scale, the cerebral blood volume ASPECTS, and two novel imaging parameters in the prediction of clinical outcome of ischemic stroke patients receiving intravenous thrombolytic therapy.
Stroke
Validation of the Catherine Bergego Scale in patients with unilateral spatial neglect after stroke.
Stroke
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase.]
Stuttering
Progressive aphasia, apraxia of speech and agraphia in corticobasal degeneration: A 12-case series clinical and neuropsychological descriptive study.
Subarachnoid Hemorrhage
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Subarachnoid Hemorrhage
Gain-of-function polymorphisms of cystathionine ?-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Supranuclear Palsy, Progressive
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.
Supranuclear Palsy, Progressive
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder.
Supranuclear Palsy, Progressive
Caregiver strain in progressive supranuclear palsy and corticobasal syndromes.
Supranuclear Palsy, Progressive
Correlation between antemortem magnetic resonance imaging findings and pathologically confirmed corticobasal degeneration.
Supranuclear Palsy, Progressive
Corticobasal degeneration and corticobasal syndrome: A review.
Supranuclear Palsy, Progressive
Corticobasal degeneration: a pathologically distinct 4R tauopathy.
Supranuclear Palsy, Progressive
CSF sAPP? and sAPP? levels in Alzheimer's Disease and Multiple Other Neurodegenerative Diseases: A Network Meta-Analysis.
Supranuclear Palsy, Progressive
Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes.
Supranuclear Palsy, Progressive
Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.
Supranuclear Palsy, Progressive
FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome.
Supranuclear Palsy, Progressive
Fronto-parietal contributions to episodic retrieval-evidence from neurodegenerative disorders.
Supranuclear Palsy, Progressive
In vivo retention of (18)F-AV-1451 in corticobasal syndrome.
Supranuclear Palsy, Progressive
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Supranuclear Palsy, Progressive
Metabolic network expression in parkinsonism: Clinical and dopaminergic correlations.
Supranuclear Palsy, Progressive
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India.
Supranuclear Palsy, Progressive
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome.
Supranuclear Palsy, Progressive
Tau immunoreactivity in glial cytoplasmic inclusions in multiple system atrophy.
Supranuclear Palsy, Progressive
[Corticobasal syndrome: recent advances and future directions].
Surgical Wound Infection
Prevention and Treatment of Life-Threatening Bleeding After Thyroid Surgery.
Tauopathies
PET Tau Imaging and Motor Impairments Differ Between Corticobasal Syndrome and Progressive Supranuclear Palsy With and Without Alzheimer's Disease Biomarkers.
Tauopathies
Post mortem cerebrospinal fluid ?-synuclein levels are raised in multiple system atrophy and distinguish this from the other ?-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies.
Tauopathies
Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations.
Tauopathies
The Significance of Vascular Pathogenesis in the Examination of Corticobasal Syndrome.
Tetany
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Thalassemia
Serum neutrophil gelatinase-B associated lipocalin (NGAL) levels in Down's syndrome patients.
Thrombocytopenia
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.
Thromboembolism
Circular RNAs profiling in the cystathionine-?-synthase mutant mouse reveals novel gene targets for hyperhomocysteinemia induced ocular disorders.
Thromboembolism
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Thromboembolism
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Thromboembolism
Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease.
Thromboembolism
Homocysteine, factor VII and antithrombin III in subjects with different gene dosage for cystathionine beta-synthase.
Thromboembolism
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.
Thromboembolism
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Thromboembolism
Proteomic exploration of cystathionine ?-synthase deficiency: implications for the clinic.
Thromboembolism
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Thromboembolism
Serum Proteome Alterations in Human Cystathionine ?-Synthase Deficiency and Ischemic Stroke Subtypes.
Thromboembolism
Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency.
Thrombophilia
Combination of thrombophilia markers in acute myocardial infarction of the young.
Thrombophilia
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Thrombosis
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.
Thrombosis
Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.
Thrombosis
Corticobasal Syndrome Associated with Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus.
Thrombosis
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Thrombosis
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Thrombosis
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Thrombosis
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Thrombosis
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Thrombosis
Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine.
Thrombosis
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Thrombosis
Middle cerebral artery thrombus susceptibility-weighted imaging mapping predicts prognosis.
Thrombosis
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Thrombosis
Paradoxical absence of a prothrombotic phenotype in a mouse model of severe hyperhomocysteinemia.
Thrombosis
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.
Thrombosis
Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.
Thrombosis
Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles.
Thrombosis
Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.
Thrombosis
Thrombus Imaging Characteristics and Outcomes in Acute Ischemic Stroke Patients Undergoing Endovascular Treatment.
Thrombosis
Treatment of Cystathionine ?-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
Thyroid Neoplasms
Exogenous Hydrogen Sulfide Regulates the Growth of Human Thyroid Carcinoma Cells.
Toxoplasmosis
Cystathionine ?-synthase is involved in cysteine biosynthesis and H2S generation in Toxoplasma gondii.
Transfusion-Related Acute Lung Injury
Blood donors implicated in transfusion-related acute lung injury with patient-specific HLA antibodies are more broadly sensitized to HLA antigens compared to other blood donors.
Transfusion-Related Acute Lung Injury
Transfusion-related lung injury in children: a case series and review of the literature.
Tremor
The evolution of parkinsonism in primary progressive apraxia of speech: A 6-year longitudinal study.
Tuberculoma
Corticobasal syndrome due to a thalamic tuberculoma and focal cortical atrophy.
Tuberculosis
Structure-Guided Design of Novel Thiazolidine Inhibitors of O-Acetyl Serine Sulfhydrylase from Mycobacterium tuberculosis.
Tuberculosis
The 7H11 Agar Medium Supplemented with Calf Bovine Serum for Susceptibility Testing of Mycobacterium tuberculosis Isolates Against Pyrazinamide.
Ureteral Obstruction
[Change in plasma H2S level and therapeutic effect of H2S supplementation in tubulointerstitial fibrosis among rats with unilateral ureteral obstruction].
Uterine Cervical Neoplasms
Cell block as an adjunct to conventional Papanicolaou smear for diagnosis of cervical cancer in resource-limited settings.
Uveitis, Anterior
Angle-closure glaucoma secondary to inflammatory capsular block syndrome following routine cataract surgery.
Vaccine-Preventable Diseases
Community-based surveillance advances the Global Health Security Agenda in Ghana.
Vaginitis
[Genotyping of Vaginal Candida glabrata Isolates Using Microsatellite Marker Analysis and DNA Sequencing to Identify Mutations Associated with Antifungal Resistance].
Vascular Diseases
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
Vascular Diseases
A new mutation trans to I278T cystathionine beta-synthase associated with Factor V Leiden causes mild homocystinuria but severe vascular disease.
Vascular Diseases
Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease.
Vascular Diseases
Age dependency of cystathionine beta-synthase activity in human fibroblasts in homocyst(e)inemia and atherosclerotic vascular disease.
Vascular Diseases
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: Relevance of renal function.
Vascular Diseases
Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia.
Vascular Diseases
Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease.
Vascular Diseases
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver.
Vascular Diseases
Cystathionine beta synthase modulates senescence of human endothelial cells.
Vascular Diseases
Cystathionine beta-synthase is enriched in the brains of Down's patients.
Vascular Diseases
Cystathionine-beta-synthase deficiency: detection of heterozygotes by the ratios of homocysteine to cysteine and folate.
Vascular Diseases
Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology.
Vascular Diseases
Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.
Vascular Diseases
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency.
Vascular Diseases
Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.
Vascular Diseases
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application.
Vascular Diseases
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Vascular Diseases
Hyperhomocysteinaemia: a risk factor for extracranial carotid artery atherosclerosis.
Vascular Diseases
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment.
Vascular Diseases
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Vascular Diseases
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
Vascular Diseases
Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.
Vascular Diseases
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Vascular Diseases
The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia.
Vascular Diseases
The influence of genetic and environmental factors on plasma homocysteine concentrations in a population at high risk for coronary artery disease.
Vascular Diseases
The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia.
Vascular Diseases
Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.
Vascular Diseases
[Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease]
Venous Thromboembolism
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiency.
Venous Thrombosis
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Venous Thrombosis
Age and cystathionine beta-synthase activity in cultured fibroblasts from patients with arterial and venous vascular disease.
Venous Thrombosis
CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis.
Venous Thrombosis
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.
Venous Thrombosis
Edoxaban improves venous thrombosis via increasing hydrogen sulfide and homocysteine in rat model.
Venous Thrombosis
Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.
Venous Thrombosis
Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
Venous Thrombosis
Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine ?-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.
Venous Thrombosis
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.
Venous Thrombosis
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis]
Venous Thrombosis
[Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis]
Ventricular Dysfunction, Left
Hyperhomocysteinemia abrogates fasting-induced cardioprotection against ischemia/reperfusion by limiting bioavailability of hydrogen sulfide anions.
Ventricular Dysfunction, Left
[Different methods of myocardial revascularization in non-stable stenocardia]
Ventricular Premature Complexes
Carotid Baroreceptor Stimulation Prevents Arrhythmias Induced by Acute Myocardial Infarction through Autonomic Modulation.
Vesicular Stomatitis
Efficient bone marrow transduction by gene transfer with allogeneic umbilical cord blood serum and plasma: an implication for clinical trials.
Virus Diseases
The Role of Individual Carbohydrate-Binding Sites in the Function of the Potent Anti-HIV Lectin Griffithsin.
Vision Disorders
Charles Bonnet syndrome associated with a first attack of multiple sclerosis.
Vision Disorders
Escitalopram for antipsychotic nonresponsive visual hallucinosis: eight patients suffering from Charles Bonnet syndrome.
Vision Disorders
Hypermetabolism in the left thalamus and right inferior temporal area on positron emission tomography-statistical parametric mapping (PET-SPM) in a patient with Charles Bonnet syndrome resolving after treatment with valproic acid.
Vision Disorders
Multimodal Hallucinations in a Visually Impaired Elderly Female: Is it a Variant of Charles Bonnet Syndrome?
Vision Disorders
[Complex visual hallucinations in the visually impaired, the Charles Bonnet syndrome].
Vision, Low
An examination of the relationship between low vision and Charles Bonnet syndrome.
Vision, Low
Benefit of psychiatric evaluation on anxiety in patients with Charles Bonnet syndrome.
Vision, Low
Prevalence of Charles Bonnet syndrome in patients with glaucoma: a systematic review with meta-analyses.
Vitamin B 12 Deficiency
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency.
Vitamin B 6 Deficiency
Multiple roles of haem in cystathionine ?-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.
Vitamin B 6 Deficiency
[Deregulation of homocysteine metabolism and consequences for the vascular system]
Vitiligo
Estimation of Homocysteine Level and Methylenetetrahydrofolate Reductase (MTHFR) Gene and Cystathionine B Synthase (CBS) Gene Polymorphisms in Vitiligo Patients.
Vitiligo
Evaluation of genotyping methods and costs for MTHFR, CBS and MTRR polymorphisms in patients with vitiligo.
Vitiligo
High incidence of MTHFR, CBS, and MTRR polymorphisms in vitiligo patients. Preliminary report in a retrospective study.
Whooping Cough
Critical assessment of the platelet adenylate cyclase system as a potential model for testing alpha 2 adrenergic activity.
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
physiological function
deletion mutants of conserved domain protein/cyclin M Mg2+ transporter CNNM2, lacking the CBS domains, are unable to promote Mg2+ efflux. The CBS domains of CNNM2 bind to ATP in a Mg2+-dependent manner
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UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). Please wait a moment until the data is sorted. This message will disappear when the data is sorted.
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
T568I
substitution of amino acid residue in the CBS domains of CNNM2, abrogates Mg2+ efflux and binding of ATP
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Hirata, Y.; Funato, Y.; Takano, Y.; Miki, H.
Mg2+-dependent interactions of ATP with the cystathionine-beta-synthase (CBS) domains of a magnesium transporter
J. Biol. Chem.
289
14731-14739
2014
Mus musculus (Q3TWN3)
brenda
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Release 2023.1 (January 2023)
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