Disease on EC 6.5.1.1 - DNA ligase (ATP) and Organism(s) Homo sapiens and UniProt Accession P49916

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DISEASE
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Acidosis
Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
Acidosis, Lactic
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
aconitate hydratase deficiency
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency.
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain.
Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.
[Aconitase deficiency]
Acute Kidney Injury
Fumarase activity: an in vivo and in vitro biomarker for acute kidney injury.
Adenocarcinoma
Diagnostic correlation between the expression of the DNA repair enzyme N-methylpurine DNA glycosylase and esophageal adenocarcinoma onset: a retrospective pilot study.
Adenoma
Chemosensitizing effect of shRNA-mediated ERCC1 silencing on a Xuanwei lung adenocarcinoma cell line and its clinical significance.
Molecular mechanism of regulation of OGG1: tuberin deficiency results in cytoplasmic redistribution of transcriptional factor NF-YA.
Polynucleotide kinase 3' phosphatase variant, dietary variables and risk of adenoma recurrence in the Polyp Prevention Trial.
Adenoviridae Infections
Adenovirus E4 34k and E1b 55k oncoproteins target host DNA ligase IV for proteasomal degradation.
E1B 55k-independent dissociation of the DNA ligase IV/XRCC4 complex by E4 34k during adenovirus infection.
The ?2 helix in the DNA ligase IV BRCT-1 domain is required for targeted degradation of ligase IV during adenovirus infection.
African Swine Fever
African swine fever virus encodes a DNA ligase.
Contributions of an Endonuclease IV Homologue to DNA Repair in the African Swine Fever Virus.
Structure of the error-prone DNA ligase of African swine fever virus identifies critical active site residues.
Use of damaged DNA and dNTP substrates by the error-prone DNA polymerase X from African swine fever virus.
Alzheimer Disease
Bayer-Activities of Daily Living Scale in Mild and Moderate Dementia of the Alzheimer Type.
Lymphocytic mitochondrial aconitase activity is reduced in Alzheimer's disease and mild cognitive impairment.
Mitochondrial oxidative stress index, activity of redox-sensitive aconitase and effects of endogenous anti- and pro-oxidants on its activity in control, Alzheimer's disease and Swedish Familial Alzheimer's disease brain.
Amyotrophic Lateral Sclerosis
Mutant AP endonuclease in patients with amyotrophic lateral sclerosis.
Anemia
Specificity of the nick-closing activity of bacteriophage T4 DNA ligase.
[Expression of iron responsive element binding protein mRNA and analysis of aconitase activity in iron deficiency anemia rats]
Anemia, Iron-Deficiency
[Expression of iron responsive element binding protein mRNA and analysis of aconitase activity in iron deficiency anemia rats]
Angina Pectoris
Natural compound methyl protodioscin protects rat brain from ischemia/reperfusion injury through regulation of Mul1/SOD2 pathway.
Apraxias
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Arthritis, Rheumatoid
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.
Deficiency of the DNA repair enzyme ATM in rheumatoid arthritis.
Microsatellite instability and suppressed DNA repair enzyme expression in rheumatoid arthritis.
Astrocytoma
Immunohistochemical detection of the DNA repair enzyme O6-methylguanine-DNA methyltransferase in formalin-fixed, paraffin-embedded astrocytomas.
Ataxia
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment.
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Ataxia Telangiectasia
Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines.
Agrobacterium T-DNA integration into the plant genome can occur without the activity of key non-homologous end-joining proteins.
DNA Damage Response Signals Transduce Stress From Rheumatoid Arthritis Risk Factors Into T Cell Dysfunction.
DNA repair enzyme deficiency and in vitro complementation of the enzyme activity in cell-free extracts from ataxia telangiectasia fibroblasts.
Four radiation hypersensitivity cases and their implications for clinical radiotherapy.
Identification of proteins in the hamster DNA end-binding complex.
Indicators of late normal tissue response after radiotherapy for head and neck cancer: fibroblasts, lymphocytes, genetics, DNA repair, and chromosome aberrations.
Insufficiency of DNA repair enzyme ATM promotes naive CD4 T-cell loss in chronic hepatitis C virus infection.
Low levels of endogenous or X-ray-induced DNA double-strand breaks activate apoptosis in adult neural stem cells.
Measurement of DNA polymerase beta in skin fibroblast cell lines from patients with ataxia telangiectasia.
Non-homologous end joining in class switch recombination: the beginning of the end.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Primary immunodeficiency syndromes associated with defective DNA double-strand break repair.
Rejuvenating the immune system in rheumatoid arthritis.
Requirement for DNA ligase IV during embryonic neuronal development.
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder.
Biliary Atresia
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia.
Bloom Syndrome
A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.
Altered DNA ligase I activity in Bloom's syndrome cells.
Atm is a negative regulator of intestinal neoplasia.
Biochemical properties of mammalian DNA ligase I and the molecular defect in Bloom's syndrome.
Bloom syndrome.
Characterization of the XRCC1-DNA ligase III complex in vitro and its absence from mutant hamster cells.
Comet assay analysis of repair of DNA strand breaks in normal and deficient human cells exposed to radiations and chemicals. Evidence for a repair pathway specificity of DNA ligation.
Defective DNA ligase I in Bloom's syndrome cells. Simultaneous analysis using immunoblotting and the ligase-[32P]AMP adduct assay.
DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients.
DNA ligase I deficiency in Bloom's syndrome.
DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability.
DNA ligase I, Bloom's syndrome, and cancer.
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells.
DNA repair and the molecular mechanisms of Bloom's syndrome.
Eukaryotic DNA ligases.
Expression of a DNA-ligase-stimulatory factor in Bloom's syndrome cell line GM1492.
Fingerprinting of near-homogeneous DNA ligase I and II from human cells. Similarity of their AMP-binding domains.
Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene.
Identification of proteins in the hamster DNA end-binding complex.
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila.
Mammalian DNA ligase III: molecular cloning, chromosomal localization, and expression in spermatocytes undergoing meiotic recombination.
Non-homologous end joining, but not homologous recombination, enables survival for cells exposed to a histone deacetylase inhibitor.
Normal uracil-DNA glycosylase activity in Bloom's syndrome cells.
Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes.
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity.
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Rescue of the adeno-associated virus 2 genome correlates with alterations in DNA-modifying enzymes in human cells.
Structural alterations of DNA ligase I in Bloom syndrome.
Two types of DNA ligase I activity in lymphoblastoid cells from patients with Bloom's syndrome.
V(D)J recombination in ataxia telangiectasia, Bloom's syndrome, and a DNA ligase I-associated immunodeficiency disorder.
Vaccinia DNA ligase complements Saccharomyces cerevisiae cdc9, localizes in cytoplasmic factories and affects virulence and virus sensitivity to DNA damaging agents.
Brain Diseases
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
Brain Diseases, Metabolic
Infantile Metabolic Encephalopathy Due to Fumarase Deficiency.
Brain Injuries
Interaction between inducible nitric oxide synthase and poly(ADP-ribose) polymerase in focal ischemic brain injury.
Brain Ischemia
Neuroprotective effects of an antioxidant in cortical cerebral ischemia: prevention of early reduction of the apurinic/apyrimidinic endonuclease DNA repair enzyme.
Brain Neoplasms
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
O6-alkylguanine-DNA alkyltransferase activity in human brain tumors.
p53 mutations, O6-alkylguanine DNA alkyltransferase activity, and sensitivity to procarbazine in human brain tumors.
[Study on potentiation of nitrosourea-cytotoxicity by DNA repair enzyme inhibitors in human brain tumor cells]
Breast Neoplasms
A Novel Benzocoumarin-Stilbene Hybrid as a DNA ligase I inhibitor with in vitro and in vivo anti-tumor activity in breast cancer models.
Absence of the DNA repair enzyme human 8-oxoguanine glycosylase is associated with an aggressive breast cancer phenotype.
Altered expression of the DNA repair protein, N-methylpurine-DNA glycosylase (MPG) in breast cancer.
Co-enzyme Q10, riboflavin and niacin supplementation on alteration of DNA repair enzyme and DNA methylation in breast cancer patients undergoing tamoxifen therapy.
Defective repair of oxidative dna damage in triple-negative breast cancer confers sensitivity to inhibition of poly(ADP-ribose) polymerase.
Development of non-electrophoretic assay method for DNA ligases and its application to screening of chemical inhibitors of DNA ligase I.
Dynamin impacts homology-directed repair and breast cancer response to chemotherapy.
Fluorescent oligonucleotides can serve as suitable alternatives to radiolabeled oligonucleotides.
Genetic polymorphisms in the DNA repair enzyme ERCC2 and breast tumour risk in a Chinese population.
Induced in vivo knockdown of the Brca1 gene in skeletal muscle results in skeletal muscle weakness.
Mitochondrial DNA Repair through OGG1 Activity Attenuates Breast Cancer Progression and Metastasis.
Polymorphism of the DNA repair enzyme XRCC1 is associated with treatment prediction in anthracycline and cyclophosphamide/methotrexate/5-fluorouracil-based chemotherapy of patients with primary invasive breast cancer.
Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer.
Reduced DNA repair capacity in breast cancer patients and unaffected individuals from breast cancer families.
Regulation of expression of N-methylpurine DNA glycosylase in human mammary epithelial cells: role of transcription factor AP-2.
SCR7 is neither a selective nor a potent inhibitor of human DNA ligase IV.
Targeting abnormal DNA repair in therapy-resistant breast cancers.
WW domain containing E3 ubiquitin protein ligase 1 targets the full-length ErbB4 for ubiquitin-mediated degradation in breast cancer.
[Report on the first year of the activity of the National Oncological RD Consortium]
Bronchopulmonary Dysplasia
Loss of lung mitochondrial aconitase activity due to hyperoxia in bronchopulmonary dysplasia in primates.
Burkitt Lymphoma
The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells.
Carcinogenesis
Association between O6-alkylguanine-DNA-alkyltransferase activity in peripheral blood lymphocytes and bronchial epithelial cells.
DNA polymerase beta overexpression stimulates the Rad51-dependent homologous recombination in mammalian cells.
Fluorescence Probes for ALKBH2 Allow the Measurement of DNA Alkylation Repair and Drug Resistance Responses.
Formation and repair of DNA adducts in vinyl chloride- and vinyl fluoride-induced carcinogenesis.
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.
Impaired nonhomologous end-joining provokes soft tissue sarcomas harboring chromosomal translocations, amplifications, and deletions.
Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung.
In vivo positive mutagenicity of 1,4-dioxane and quantitative analysis of its mutagenicity and carcinogenicity in rats.
Increased susceptibility of chronic ulcerative colitis-induced carcinoma development in DNA repair enzyme Ogg1 deficient mice.
Influence of fatty acid synthase inhibitor orlistat on the DNA repair enzyme O6-methylguanine-DNA methyltransferase in human normal or malignant cells in vitro.
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila.
Mitochondrial DNA Repair through OGG1 Activity Attenuates Breast Cancer Progression and Metastasis.
Novel mechanism of reducing tumourigenesis: upregulation of the DNA repair enzyme OGG1 by rapamycin-mediated AMPK activation and mTOR inhibition.
The MBD4 Glu346Lys polymorphism is associated with the risk of cervical cancer in a Chinese population.
Carcinoma
Absence of MGMT promoter methylation in endometrial cancer.
Antitumor activity and induction of apoptosis by water-soluble derivatives of 7 beta-hydroxycholesterol in human colon carcinoma cell lines.
Assessment of P-glycoprotein, glutathione-based detoxifying enzymes and O6-alkylguanine-DNA alkyltransferase as potential indicators of constitutive drug resistance in human colorectal tumors.
Changes induced by Ehrlich ascites carcinoma in hepatic fumarase and aconitase activities.
Cholesterol modulation of the expression of mitochondrial aconitase in human prostatic carcinoma cells.
Concomitant loss of mitochondria and the DNA repair protein hOGG1 in clear cell carcinoma of the kidney.
Cyclic adenosine 3',5'-monosphosphate mediate prolactin regulation of mitochondrial aconitase in human prostate carcinoma cells.
DNA repair enzyme polymorphisms and oxidative stress in a Turkish population with gastric carcinoma.
Effects of cisplatin on expression of DNA ligases in MiaPaCa human pancreatic cancer cells.
Expression and clinical significance of the DNA repair enzyme MYH in esophageal squamous cell carcinoma.
Hypoxia upregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells.
Increased susceptibility of chronic ulcerative colitis-induced carcinoma development in DNA repair enzyme Ogg1 deficient mice.
Levels of the DNA repair enzyme human apurinic/apyrimidinic endonuclease (APE1, APEX, Ref-1) are associated with the intrinsic radiosensitivity of cervical cancers.
Loss of expression of DNA repair enzyme MGMT in oral leukoplakia and early oral squamous cell carcinoma. A prognostic tool?
Manganese antagonizes iron blocking mitochondrial aconitase expression in human prostate carcinoma cells.
Modulation of iron on mitochondrial aconitase expression in human prostatic carcinoma cells.
Modulation of mitochondrial aconitase on the bioenergy of human prostate carcinoma cells.
Molecular mechanism of regulation of OGG1: tuberin deficiency results in cytoplasmic redistribution of transcriptional factor NF-YA.
Nitroprusside stimulates mitochondrial aconitase gene expression through the cyclic adenosine 3',5'-monosphosphate signal transduction pathway in human prostate carcinoma cells.
p53 downregulates the gene expression of mitochondrial aconitase in human prostate carcinoma cells.
SNPs of GSTM1, T1, P1, epoxide hydrolase and DNA repair enzyme XRCC1 and risk of urinary transitional cell carcinoma in southwestern Taiwan.
Study of AP endonuclease (APEX1/REF1), a DNA repair enzyme, in gallbladder carcinoma.
Testosterone modulates mitochondrial aconitase in the full-length human androgen receptor-transfected PC-3 prostatic carcinoma cells.
WW domain-containing E3 ubiquitin protein ligase 1 depletion evokes antitumor effect in cutaneous squamous cell carcinoma by inhibiting signal transducer and activator of transcription 3 signaling pathway.
Zinc blocks gene expression of mitochondrial aconitase in human prostatic carcinoma cells.
Carcinoma, Ehrlich Tumor
DNA ligase from mouse Ehrlich ascites tumor cells.
Carcinoma, Hepatocellular
Characterisation of the DNA repair enzyme for O(6)-methylguanine in cirrhosis.
Decreased mitochondrial OGG1 expression is linked to mitochondrial defects and delayed hepatoma cell growth.
Expression of DNA repair enzyme hMTH1 mRNA and protein in hepatocellular carcinoma.
Increased activity of polynucleotide ligase from rat hepatoma induced by N-2-fluorenylacetamide.
Knockdown of ECHS1 protein expression inhibits hepatocellular carcinoma cell proliferation via suppression of Akt activity.
Polynucleotide ligase in rat tissues and ascites hepatoma.
Silencing ECHS1 attenuates the proliferation and induces the autophagy of hepatocellular carcinoma via impairing cell metabolism and activating AMPK.
The effects of HBx gene on the expression of DNA repair enzymes hOGG1 and hMYHalpha mRNA in HepG2 cells.
Ubiquitination of UVRAG by SMURF1 promotes autophagosome maturation and inhibits hepatocellular carcinoma growth.
Carcinoma, Non-Small-Cell Lung
A high-throughput screen identifies PARP1/2 inhibitors as a potential therapy for ERCC1-deficient non-small cell lung cancer.
Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity.
The oncogenic RNA-binding protein SRSF1 regulates LIG1 in non-small cell lung cancer.
Carcinoma, Renal Cell
Concomitant loss of mitochondria and the DNA repair protein hOGG1 in clear cell carcinoma of the kidney.
Carcinoma, Squamous Cell
Absence of MGMT promoter methylation in endometrial cancer.
DNA double-strand break repair, DNA-PK, and DNA ligases in two human squamous carcinoma cell lines with different radiosensitivity.
Loss of expression of DNA repair enzyme MGMT in oral leukoplakia and early oral squamous cell carcinoma. A prognostic tool?
WW domain-containing E3 ubiquitin protein ligase 1 depletion evokes antitumor effect in cutaneous squamous cell carcinoma by inhibiting signal transducer and activator of transcription 3 signaling pathway.
Carcinoma, Transitional Cell
SNPs of GSTM1, T1, P1, epoxide hydrolase and DNA repair enzyme XRCC1 and risk of urinary transitional cell carcinoma in southwestern Taiwan.
Cardiotoxicity
Doxorubicin-induced cardiotoxicity: direct correlation of cardiac fibroblast and H9c2 cell survival and aconitase activity with heat shock protein 27.
Cataract
Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development.
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese.
Protective effects of ibuprofen and its major metabolites against in vitro inactivation of catalase and fumarase: relevance to cataract.
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]
[Explore the genotype characteristics of DNA repair enzyme XRCC1 and XPD in the lens epithelium associated with free radical level in the age-related cataract patients].
Cerebellar Ataxia
Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress.
Cholangiocarcinoma
Impaired antioxidant enzyme activity and increased DNA repair enzyme expression in hamster liver tissues related to cholangiocarcinoma development.
Colonic Neoplasms
Effects of Watermelon Powder and l-arginine Supplementation on Azoxymethane-Induced Colon Carcinogenesis in Rats.
Epigenetic Targeting of Transforming Growth Factor beta Receptor II and Implications for Cancer Therapy.
Colorectal Neoplasms
A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides.
Altered regulation of DNA ligase IV activity by aberrant promoter DNA methylation and gene amplification in colorectal cancer.
B-cell lymphoma 2 is associated with advanced tumor grade and clinical stage, and reduced overall survival in young Chinese patients with colorectal carcinoma.
Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt.
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers.
Promoter CpG Island Hypermethylation of the DNA Repair Enzyme MGMT Predicts Clinical Response to Dacarbazine in a Phase II Study for Metastatic Colorectal Cancer.
The value of XPD and XRCC1 genotype polymorphisms to predict clinical outcome in metastatic colorectal carcinoma patients with irinotecan-based regimens.
Cutis Laxa
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Cysts
Fumarase deficiency presenting with periventricular cysts.
Decompression Sickness
The high-mobility group protein T160 binds to both linear and cruciform DNA and mediates DNA bending as determined by ring closure.
Dehydration
Carbinolamine formation and dehydration in a DNA repair enzyme active site.
Dementia
Bayer-Activities of Daily Living Scale in Mild and Moderate Dementia of the Alzheimer Type.
Generic quality of life assessment in dementia patients: a prospective cohort study.
Spanish version of the Bayer Activities of Daily Living scale in mild cognitive impairment and mild Alzheimer disease: discriminant and concurrent validity.
The Bayer-Activities of Daily Living Scale (B-ADL): results from a validation study in three European countries.
Validation of the Korean version of the Bayer activities of daily living scale.
Diabetes Mellitus
Effects of N-[Imino(1-Piperidinyl)Methyl] Guanidine on the Intensity of Free Radical Processes, Aconitase Activity, and Citrate Level in the Tissues of Rats with Experimental Type 2 Diabetes Mellitus.
Poly(ADP-ribose) polymerase inhibition reverses nitrergic neurovascular dysfunctions in penile erectile tissue from streptozotocin-diabetic mice.
Diabetes Mellitus, Type 1
European Nicotinamide Diabetes Intervention Trial (ENDIT): a randomised controlled trial of intervention before the onset of type 1 diabetes.
Diabetes Mellitus, Type 2
Effects of N-[Imino(1-Piperidinyl)Methyl] Guanidine on the Intensity of Free Radical Processes, Aconitase Activity, and Citrate Level in the Tissues of Rats with Experimental Type 2 Diabetes Mellitus.
Islet expression of the DNA repair enzyme 8-oxoguanosine DNA glycosylase (Ogg1) in human type 2 diabetes.
dna ligase (atp) deficiency
A novel mutation in a family with DNA ligase IV deficiency syndrome.
Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.
Are endogenous clustered DNA damages induced in human cells?
Association of a possible DNA ligase deficiency with T-cell acute leukemia.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm.
Defects in DNA ligase I trigger PCNA ubiquitylation at Lys 107.
DNA ligase gene disruptions can depress viral growth and replication in poxvirus-infected cells.
DNA ligase I deficiency in Bloom's syndrome.
DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell morphology without blocking cell cycle progression.
DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability.
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway.
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
DNA ligase IV syndrome; a review.
DNA repair enzyme deficiency and in vitro complementation of the enzyme activity in cell-free extracts from ataxia telangiectasia fibroblasts.
DNA repair patch-mediated double strand DNA break formation in human cells.
Effect of chloramphenicol and the recB gene product on DNA metabolism in Escherichia coli K12 strains defective in DNA ligase.
Epstein-Barr virus-independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Induction of error-prone repair as a consequence of DNA ligase deficiency in Escherichia coli.
Ligase IV syndrome.
Molecular and immunological characterization of DNA ligase IV deficiency.
Multiple pathways of DNA double-strand break processing in a mutant Indian muntjac cell line.
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Nijmegen breakage syndrome (NBS).
Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Partial complementation of a DNA ligase I deficiency by DNA ligase III and its impact on cell survival and telomere stability in mammalian cells.
Phosphorylation of SRSF1 is modulated by replicational stress.
Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene.
Rescue of the adeno-associated virus 2 genome correlates with alterations in DNA-modifying enzymes in human cells.
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
DNA Repair-Deficiency Disorders
Characterisation of the DNA repair enzyme for O(6)-methylguanine in cirrhosis.
Dyskinesias
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.
Dystonia
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Encephalitis
Damage and repair of DNA in HIV encephalitis.
enoyl-coa hydratase deficiency
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Enterovirus Infections
Divergent Requirement for a DNA Repair Enzyme during Enterovirus Infections.
Esophageal Squamous Cell Carcinoma
Expression and clinical significance of the DNA repair enzyme MYH in esophageal squamous cell carcinoma.
Fanconi Anemia
Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines.
Deficiency of DNA ligase activity in Fanconi's anemia.
UV-repair is impaired in fibroblasts from patients with Fanconi's anemia.
Fatty Liver
Oval cells compensate for damage and replicative senescence of mature hepatocytes in mice with fatty liver disease.
Oxidative DNA damage and DNA repair enzyme expression are inversely related in murine models of fatty liver disease.
Fibrosarcoma
DNA ligase III is degraded by calpain during cell death induced by DNA-damaging agents.
Response of DNA repair enzymes in murine fibrosarcoma, lymphosarcoma and ascites cells following gamma irradiation.
Fowlpox
Deletion of fowlpox virus homologues of vaccinia virus genes between the 3 beta-hydroxysteroid dehydrogenase (A44L) and DNA ligase (A50R) genes.
Fowlpox virus encodes a novel DNA repair enzyme, CPD-photolyase, that restores infectivity of UV light-damaged virus.
The DNA repair enzyme, CPD-photolyase restores the infectivity of UV-damaged fowlpox virus isolated from infected scabs of chickens.
Friedreich Ataxia
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment.
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.
fumarate hydratase deficiency
A fourth case of fumarase deficiency.
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency.
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Congenital fumarase deficiency presenting with hypotonia and areflexia.
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia.
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
Fumarase deficiency in dichorionic diamniotic twins.
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Fumarase deficiency presenting with periventricular cysts.
Fumarase deficiency.
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Infantile Metabolic Encephalopathy Due to Fumarase Deficiency.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Mild fumarase deficiency and a trial of low protein diet.
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
Molecular and biochemical investigations in fumarase deficiency.
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
[Fumarase deficiency]
Genetic Diseases, Inborn
Bloom syndrome.
Cloning, overexpression and nucleotide sequence of a thermostable DNA ligase-encoding gene.
DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients.
DNA ligases: Progress and prospects.
The function of poly (ADP-ribosylation) in DNA breakage and rejoining.
Glioblastoma
A MDR1 (ABCB1) gene single nucleotide polymorphism predicts outcome of temozolomide treatment in glioblastoma patients.
A methylation-specific and SYBR-green-based quantitative polymerase chain reaction technique for O6-methylguanine DNA methyltransferase promoter methylation analysis.
Bortezomib Downregulates MGMT Expression in T98G Glioblastoma Cells.
DNA repair enzyme expression and differential response to temozolomide in a patient with both glioblastoma and metastatic pancreatic neuroendocrine tumor.
Effect of chemotherapy-induced DNA repair on oncolytic herpes simplex viral replication.
Eradication of LIG4-deficient glioblastoma cells by the combination of PARP inhibitor and alkylating agent.
In human glioblastomas transcript elongation by alternative polyadenylation and miRNA targeting is a potent mechanism of MGMT silencing.
Intratumoral heterogeneity identified at the epigenetic, genetic and transcriptional level in glioblastoma.
MGMT gene promoter methylation correlates with tolerance of temozolomide treatment in melanoma but not with clinical outcome.
MGMT methylation status: the advent of stratified therapy in glioblastoma?
O6-methyl-guanine-DNA methyltransferase methylation in serum and tumor DNA predicts response to 1,3-bis(2-chloroethyl)-1-nitrosourea but not to temozolamide plus cisplatin in glioblastoma multiforme.
Outlining involvement of stem cell program in regulation of O6-methylguanine DNA methyltransferase and development of temozolomide resistance in glioblastoma: An Editorial Highlight for 'Transcriptional control of O6 -methylguanine DNA methyltransferase expression and temozolomide resistance in glioblastoma' on page 780.
Overcoming Resistance of Glioblastoma to Conventional Cytotoxic Therapies by the Addition of PARP Inhibitors.
PARP1-Targeted Radiotherapy in Mouse Models of Glioblastoma.
PARPi-FL--a fluorescent PARP1 inhibitor for glioblastoma imaging.
Prognostic Relevance of Tumor Purity and Interaction with MGMT Methylation in Glioblastoma.
TRIM24 promotes glioma progression and enhances chemoresistance through activation of the PI3K/Akt signaling pathway.
Glioma
Acetoaminophen-induced accumulation of 8-oxodeoxyguanosine through reduction of Ogg1 DNA repair enzyme in C6 glioma cells.
Adenovirus-based strategies overcome temozolomide resistance by silencing the O6-methylguanine-DNA methyltransferase promoter.
CpG island hypermethylation of the DNA repair enzyme methyltransferase predicts response to temozolomide in primary gliomas.
Enhanced repair of a cisplatin-damaged reporter chloramphenicol-O-acetyltransferase gene and altered activities of DNA polymerases alpha and beta, and DNA ligase in cells of a human malignant glioma following in vivo cisplatin therapy.
Frequent promoter hypermethylation and low expression of the MGMT gene in oligodendroglial tumors.
MGMT repletion after treatment of glioblastoma cells with temozolomide and O6-benzylguanine implicates NF?B and mutant p53.
MGMT testing--the challenges for biomarker-based glioma treatment.
O?-methylguanine-DNA methyltransferase promoter methylation in 45 primary central nervous system lymphomas: quantitative assessment of methylation and response to temozolomide treatment.
Oncolytic adenoviruses for the treatment of brain tumors.
Oxidative stress induces apoptosis in C6 glioma cells: involvement of mitogen-activated protein kinases and nuclear factor kappa B.
Stable expression in rat glioma cells of sense and antisense nucleic acids to a human multifunctional DNA repair enzyme, APEX nuclease.
[Circumvention of ACNU-resistance in rat glioma cells by pretreatment with O6-methylguanine]
[Personalized neurooncology].
Gonorrhea
The prevalence of urinary tract infections and sexually transmitted disease in women with symptoms of a simple urinary tract infection stratified by low colony count criteria.
Granuloma
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Head and Neck Neoplasms
FOXO3 induces ubiquitylation of AKT through MUL1 regulation.
Involvement of single-nucleotide polymorphisms in predisposition to head and neck cancer in saudi arabia.
The poly(ADP-Ribose) polymerase inhibitor ABT-888 reduces radiation-induced nuclear EGFR and augments head and neck tumor response to radiotherapy.
[Report on the first year of the activity of the National Oncological RD Consortium]
Hepatitis
Mitochondrial aconitase binds to the 3' untranslated region of the mouse hepatitis virus genome.
Mitochondrial aconitase binds to the 3'-UTR of mouse hepatitis virus RNA.
[Mitochondrial alterations in experimental hepatitis due to MHV 3 virus: activation and release of fumarase and rhodanese]
Hepatitis C
Hepatitis C virus induces oxidative stress, DNA damage and modulates the DNA repair enzyme NEIL1.
Hepatitis C, Chronic
Insufficiency of DNA repair enzyme ATM promotes naive CD4 T-cell loss in chronic hepatitis C virus infection.
Hepatitis, Chronic
Differential expression of hepatic apurinic/apyrimidinic endonuclease 1, a DNA repair enzyme, in chronic hepatitis.
Herpes Simplex
Crystallization and preliminary X-ray analysis of the uracil-DNA glycosylase DNA repair enzyme from herpes simplex virus type 1.
Isolation of a herpes simplex virus cDNA encoding the DNA repair enzyme uracil-DNA glycosylase.
Knockdown of DNA ligase IV/XRCC4 by RNA interference inhibits herpes simplex virus type I DNA replication.
Nucleotide sequence of a 55 kbp region from the right end of the genome of a pathogenic African swine fever virus isolate (Malawi LIL20/1).
Hip Dislocation
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Huntington Disease
Mitochondrial aconitase is a transglutaminase 2 substrate: transglutamination is a probable mechanism contributing to high-molecular-weight aggregates of aconitase and loss of aconitase activity in Huntington disease brain.
Hyperglycemia
Effects of two oral antidiabetics, pioglitazone and repaglinide, on aconitase inactivation, inflammation and oxidative/nitrosative stress in tissues under alloxan-induced hyperglycemia.
Hypersensitivity
Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.
Arabidopsis DNA polymerase lambda mutant is mildly sensitive to DNA double strand breaks but defective in integration of a transgene.
Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom's syndrome origin.
DNA Ligase IV and Artemis Act Cooperatively to Suppress Homologous Recombination in Human Cells: Implications for DNA Double-Strand Break Repair.
Four radiation hypersensitivity cases and their implications for clinical radiotherapy.
Impact of carboplatin hypersensitivity and desensitization on patients with recurrent ovarian cancer.
Inhibiting Mitochondrial DNA Ligase III? Activates Caspase 1-Dependent Apoptosis in Cancer Cells.
Interaction between PCNA and DNA ligase I is critical for joining of Okazaki fragments and long-patch base-excision repair.
Ku80-deleted cells are defective at base excision repair.
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity.
The CHO XRCC1 mutant, EM9, deficient in DNA ligase III activity, exhibits hypersensitivity to camptothecin independent of DNA replication.
Hypertension
Elevation of fumarase attenuates hypertension and can result from a nonsynonymous sequence variation or increased expression depending on rat strain.
Infarction, Middle Cerebral Artery
Upregulation of mitochondrial base-excision repair capability within rat brain after brief ischemia.
Infection
A DNA ligase gene in the Copenhagen strain of vaccinia virus is nonessential for viral replication and recombination.
Caspase activation and specific cleavage of substrates after coxsackievirus B3-induced cytopathic effect in HeLa cells.
Characterization of cytotoxicity-related gene expression in response to virulent Marek's disease virus infection in the bursa of Fabricius.
Chemosensitizing effect of shRNA-mediated ERCC1 silencing on a Xuanwei lung adenocarcinoma cell line and its clinical significance.
DNA repair deficient photodermatoses.
Expression of the unassembled capsid protein during infection of Shigella sonnei by bacteriophage T7 results in DNA damage that is repairable by bacteriophage T3, but not T7, DNA ligase.
Insufficiency of DNA repair enzyme ATM promotes naive CD4 T-cell loss in chronic hepatitis C virus infection.
Knockdown of DNA ligase IV/XRCC4 by RNA interference inhibits herpes simplex virus type I DNA replication.
Properties of DNA ligase from uninfected and virus-infected HeLa cells.
Rescue of DNA replication and bacteriophage production after infection with T4 DNA ligase mutants.
Serotype-specific inactivation of the cellular DNA damage response during adenovirus infection.
Temporal changes in chromatin, intracellular calcium, and poly(ADP-ribose) polymerase during Sindbis virus-induced apoptosis of neuroblastoma cells.
The ?2 helix in the DNA ligase IV BRCT-1 domain is required for targeted degradation of ligase IV during adenovirus infection.
Vaccinia DNA ligase complements Saccharomyces cerevisiae cdc9, localizes in cytoplasmic factories and affects virulence and virus sensitivity to DNA damaging agents.
Vaccinia virus encodes a polypeptide with DNA ligase activity.
Infertility, Male
Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification.
Polymorphisms of DNA repair genes XRCC1 and LIG4 and idiopathic male infertility.
Intellectual Disability
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Keratosis, Actinic
Reduced number of actinic keratoses with topical application of DNA repair enzyme creams.
Kidney Failure, Chronic
DNA repair XRCC1 Arg399Gln polymorphism is associated with the risk of development of end-stage renal disease.
Leigh Disease
ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome.
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Leukemia
Association of a possible DNA ligase deficiency with T-cell acute leukemia.
Benzamide potentiation of the cytotoxicity of bifunctional galactitol [correction of galacticol] in resistant P388 leukemia correlates with inhibition of DNA ligase II.
c-MYC Generates Repair Errors via Increased Transcription of Alternative-NHEJ Factors, LIG3 and PARP1, in Tyrosine Kinase-Activated Leukemias.
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity.
dATP-mediated inhibition of DNA ligase by 2'-deoxycoformycin in T and B cell leukemia.
DNA ligase I mRNA and enzyme levels in human hematopoietic cells under dimethyl sulfoxide-induced growth-arrest and differentiation.
DNA ligases in human leukemia.
DNA ligation in relation to DNA strand breaks in phytohemagglutinin-stimulated blast cells from acute lymphoblastic and nonlymphoblastic leukemia.
O6-Alkylguanine-DNA alkyltransferase content in synchronised human cancer cells.
Phosphorylated Sp1 is the regulator of DNA-PKcs and DNA ligase IV transcription of daunorubicin-resistant leukemia cell lines.
SCR7 is neither a selective nor a potent inhibitor of human DNA ligase IV.
[Enzymes involved in the metabolism, replication and repair of DNA in acute leukemias (DNA ligases)]
Leukemia, B-Cell
dATP-mediated inhibition of DNA ligase by 2'-deoxycoformycin in T and B cell leukemia.
Leukemia, Erythroblastic, Acute
A possible effect of heme on the fate of DNA ligase activity extracted from differentiating mouse erythroleukemia cells.
DNA ligase and DNase activities in mouse erythroleukemia cells during dimethyl sulfoxide-induced differentiation.
Leukemia, Lymphocytic, Chronic, B-Cell
DNA ligases in human leukemia.
DNA repair enzyme expression in chronic lymphocytic leukemia vis-à-vis nitrogen mustard drug resistance.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Polymorphisms of ERCC1 genotype associated with response to imatinib therapy in chronic phase chronic myeloid leukemia.
Up-regulation of WRN and DNA ligase IIIalpha in chronic myeloid leukemia: consequences for the repair of DNA double-strand breaks.
Leukemia, Myeloid
Down-regulation of apurinic/apyrimidinic endonuclease expression is associated with the induction of apoptosis in differentiating myeloid leukemia cells.
Leukemia, Myeloid, Acute
DNA ligases in human leukemia.
DNA ligation in relation to DNA strand breaks in phytohemagglutinin-stimulated blast cells from acute lymphoblastic and nonlymphoblastic leukemia.
Effects of clinical combinations of antileukemic drugs on DNA ligase from human thymocytes and normal, stimulated, or leukemic lymphocytes.
O6-alkylguanine-DNA alkyltransferase attenuates triazene-induced cytotoxicity and tumor cell immunogenicity in murine L1210 leukemia.
Leukoplakia, Oral
Absence of MGMT promoter methylation in endometrial cancer.
Loss of expression of DNA repair enzyme MGMT in oral leukoplakia and early oral squamous cell carcinoma. A prognostic tool?
Liver Diseases
Oval cells compensate for damage and replicative senescence of mature hepatocytes in mice with fatty liver disease.
Oxidative DNA damage and DNA repair enzyme expression are inversely related in murine models of fatty liver disease.
Lung Injury
Mitochondrial Targeted Endonuclease III DNA Repair Enzyme Protects against Ventilator Induced Lung Injury in Mice.
Lung Neoplasms
A high-throughput screen identifies PARP1/2 inhibitors as a potential therapy for ERCC1-deficient non-small cell lung cancer.
A mammalian DNA repair enzyme that excises oxidatively damaged guanines maps to a locus frequently lost in lung cancer.
Association between O6-alkylguanine-DNA-alkyltransferase activity in peripheral blood lymphocytes and bronchial epithelial cells.
DNA repair activity for oxidative damage and risk of lung cancer.
O6-Alkylguanine-DNA-alkyltransferase activity in peripheral leukocytes, smoking and risk of lung cancer.
PAK4 phosphorylates fumarase and blocks TGF-?-induced cell growth arrest in lung cancer cells.
Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity.
Roles of DNA repair enzyme OGG1 in innate immunity and its significance for lung cancer.
Rs3212986 polymorphism, a possible biomarker to predict smoking-related lung cancer, alters DNA repair capacity via regulating ERCC1 expression.
The human 8-oxoguanine DNA N-glycosylase 1 (hOGG1) DNA repair enzyme and its association with lung cancer risk.
The oncogenic RNA-binding protein SRSF1 regulates LIG1 in non-small cell lung cancer.
Lymphoma
A novel Ku70 function in colorectal homeostasis separate from nonhomologous end joining.
Amplifying mechanisms of lymphomagenesis.
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene.
O?-methylguanine-DNA methyltransferase promoter methylation in 45 primary central nervous system lymphomas: quantitative assessment of methylation and response to temozolomide treatment.
Possible depletion of a DNA repair enzyme in human lymphoma cells by subversive repair.
Lymphoma, B-Cell
B-cell lymphoma 2 is associated with advanced tumor grade and clinical stage, and reduced overall survival in young Chinese patients with colorectal carcinoma.
Epigenetic changes and their clinical relevance in Saudi diffuse large B-cell lymphoma. A molecular and tissue microarray analysis of 100 cases.
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
Epstein-Barr virus-independent diffuse large B-cell lymphoma in DNA ligase 4 deficiency.
Hypermethylation of the DNA repair gene O(6)-methylguanine DNA methyltransferase and survival of patients with diffuse large B-cell lymphoma.
Mimicking damaged DNA with a small molecule inhibitor of human UNG2.
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Lymphoma, Non-Hodgkin
Response of DNA repair enzymes in murine fibrosarcoma, lymphosarcoma and ascites cells following gamma irradiation.
Lymphopenia
Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency.
Impact of temozolomide on immune response during malignant glioma chemotherapy.
Lymphoproliferative Disorders
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
Malaria
Conditional knock-out of lipoic acid protein ligase 1 reveals redundancy pathway for lipoic acid metabolism in Plasmodium berghei malaria parasite.
Medulloblastoma
DNA ligase IV suppresses medulloblastoma formation.
Melanoma
Apurinic/apyrimidinic endonuclease /redox effector factor-1(APE/Ref-1) a unique target for the prevention and treatment of human melanoma.
ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln Polymorphisms Are Independent Prognostic Factors for the Clinical Course of Melanoma.
Eyes absent gene (EYA1) is a pathogenic driver and a therapeutic target for melanoma.
Modulation of chemotherapy resistance in regional therapy: a novel therapeutic approach to advanced extremity melanoma using intra-arterial temozolomide in combination with systemic O6-benzylguanine.
PARP1 inhibitor olaparib (Lynparza) exerts synthetic lethal effect against ligase 4-deficient melanomas.
The effect of O6-alkylguanine-DNA alkyltransferase and mismatch repair activities on the sensitivity of human melanoma cells to temozolomide, 1,3-bis(2-chloroethyl)1-nitrosourea, and cisplatin.
Treatment of human melanocytes and S91 melanoma cells with the DNA repair enzyme T4 endonuclease V enhances melanogenesis after ultraviolet irradiation.
Meningitis, Bacterial
A putative role for homocysteine in the pathophysiology of acute bacterial meningitis in children.
Mesothelioma
Asbestos increases mammalian AP-endonuclease gene expression, protein levels, and enzyme activity in mesothelial cells.
Microcephaly
A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors.
A novel mutation in a family with DNA ligase IV deficiency syndrome.
Cernunnos deficiency: a case report.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Nijmegen breakage syndrome (NBS).
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Mitochondrial Diseases
ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome.
Mitochondrial Encephalomyopathies
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Mitochondrial Myopathies
Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.
Mouth Neoplasms
Detection and Delineation of Oral Cancer With a PARP1-Targeted Optical Imaging Agent.
High O6-methylguanine methyl transferase activity is frequently found in human oral cancer cells with p53 inactivation.
Multiple Myeloma
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
miR-22 suppresses DNA ligase III addiction in multiple myeloma.
Muscle Hypotonia
Congenital fumarase deficiency presenting with hypotonia and areflexia.
Muscular Atrophy
The missing link: Mul1 signals mitophagy and muscle wasting.
Muscular Diseases
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
Muscular Dystrophies
The muscular dystrophic chicken is hypernatremic.
Myocardial Infarction
Neil3-dependent base excision repair regulates lipid metabolism and prevents atherosclerosis in Apoe-deficient mice.
Myocardial Ischemia
Natural compound methyl protodioscin protects rat brain from ischemia/reperfusion injury through regulation of Mul1/SOD2 pathway.
Myotonic Dystrophy
CTG/CAG repeat instability is modulated by the levels of human DNA ligase i and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair.
Neoplasm Metastasis
Alteration of nuclear protein profiling for NIH-3T3 cells exposed to H?O?.
Neoplasms
A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides.
A case-control study of the association of the polymorphisms and haplotypes of DNA ligase I with lung and upper-aerodigestive-tract cancers.
A computational approach to determine susceptibility to cancer by evaluating the deleterious effect of nsSNP in XRCC1 gene on binding interaction of XRCC1 protein with ligase III.
A Novel Benzocoumarin-Stilbene Hybrid as a DNA ligase I inhibitor with in vitro and in vivo anti-tumor activity in breast cancer models.
A novel Ku70 function in colorectal homeostasis separate from nonhomologous end joining.
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.
A polyoma-induced hamster tumor cell with altered DNA synthesis in vivo and reduced polynucleotide ligase activity in vitro.
Activity of a new nitrosourea (TCNU) in human lung cancer xenografts.
Activity of O6-methylguanine DNA methyltransferase in mononuclear blood cells of formaldehyde-exposed medical students.
Affinity purification and characterization of human O6-alkylguanine-DNA alkyltransferase complexed with BCNU-treated, synthetic oligonucleotide.
Alkylation and Carbamylation Effects of Lomustine and Its Major Metabolites and MGMT Expression in Canine Cells.
Altered post-translational modification of redox factor 1 protein in human uterine smooth muscle tumors.
An approach to the evaluation of the activity of the DNA repair enzyme O6-methylguanine-DNA-methyl-transferase in tumor tissue in vivo: syntheses of 6-benzyloxy-9-(2-[18F]fluoroethyl)-9H-purin-2-yl-amine and 6-benzyloxy-7-(2-[18F]fluoroethyl)-7H-purin-2-yl-amine.
Association of polymorphisms in the cyclin D1 and XPD genes and susceptibility to cancers of the upper aero-digestive tract.
Atm is a negative regulator of intestinal neoplasia.
Atrophy, hormones, genes and viruses in aetiology germ cell tumours.
B-cell lymphoma 2 is associated with advanced tumor grade and clinical stage, and reduced overall survival in young Chinese patients with colorectal carcinoma.
Bortezomib Downregulates MGMT Expression in T98G Glioblastoma Cells.
Cardiac myocyte apoptosis provokes adverse cardiac remodeling in transgenic mice with targeted TNF overexpression.
Cargo-dependent mode of uptake and bioavailability of TAT-containing proteins and peptides in living cells.
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Characterization of a novel HHV-8-positive cell line reveals implications for the pathogenesis and cell cycle control of primary effusion lymphoma.
Clinical relevance of MGMT in the treatment of cancer.
Combined evaluation of Rad51 and ERCC1 expressions for sensitivity to platinum agents in non-small cell lung cancer.
Complications of chemotherapy in neuro-oncology.
Could 8-oxoguanine DNA glycosylase 1 Ser326Cys polymorphism be a biomarker of susceptibility in cancer?
CpG island hypermethylation of the DNA repair enzyme methyltransferase predicts response to temozolomide in primary gliomas.
CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair.
Distinct requirements of adenovirus E1b55K protein for degradation of cellular substrates.
DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients.
DNA ligase from mouse Ehrlich ascites tumor cells.
DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability.
DNA ligase I, Bloom's syndrome, and cancer.
DNA ligase: a site for the immunological destruction of cancer cells.
DNA ligases as therapeutic targets.
DNA repair deficient photodermatoses.
Ectopic TLX1 expression accelerates malignancies in mice deficient in DNA-PK.
Elevated expression of DNA ligase I in human cancers.
Elucidation of pharmacokinetics of novel DNA ligase I inhibitor, S012-1332 in rats: Integration of in vitro and in vivo findings.
Enhanced repair of a cisplatin-damaged reporter chloramphenicol-O-acetyltransferase gene and altered activities of DNA polymerases alpha and beta, and DNA ligase in cells of a human malignant glioma following in vivo cisplatin therapy.
Enhancement of DNA ligase I level by gemcitabine in human cancer cells.
Enhancing the cytotoxicity of chemoradiation with radiation-guided delivery of anti-MGMT morpholino oligonucleotides in non-methylated solid tumors.
Epigenetic changes and their clinical relevance in Saudi diffuse large B-cell lymphoma. A molecular and tissue microarray analysis of 100 cases.
Eukaryotic DNA ligase. Purification and properties of the enzyme from bovine thymus, and immunochemical studies of the enzyme from animal tissues.
Evaluation of O6-methylguanine-DNA methyltransferase as a predicting factor of response to temozolomide-based chemotherapy in well-differentiated metastatic pancreatic neuroendocrine tumors.
Expression of DNA repair enzyme hMTH1 mRNA and protein in hepatocellular carcinoma.
Expression of O6-methylguanine-deoxyribose nucleic acid methyltransferase and temozolomide response in a patient with a malignant spinal cord astrocytoma. Case report.
Expression of O6-methylguanine-DNA methyltransferase in malignant human glioma cell lines.
Expression of the DNA repair enzyme, N-methylpurine-DNA glycosylase (MPG) in astrocytic tumors.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Fluorescence Probes for ALKBH2 Allow the Measurement of DNA Alkylation Repair and Drug Resistance Responses.
Focus on Fotemustine.
Formation of benzo[a]pyrene diol epoxide-DNA adducts at specific guanines within K-ras and p53 gene sequences: stable isotope-labeling mass spectrometry approach.
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
Fumarase: From the TCA Cycle to DNA Damage Response and Tumor Suppression.
Gene amplification and expression of the DNA repair enzyme, N-methylpurine-DNA glycosylase (MPG) in HPV-infected cervical neoplasias.
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
Genistein-induced changes in gene expression in Panc 1 cells at physiological concentrations of genistein.
HACE1 is a putative tumor suppressor gene in B-cell lymphomagenesis and is down-regulated by both deletion and epigenetic alterations.
HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response.
Human DNA ligase III bridges two DNA ends to promote specific intermolecular DNA end joining.
Human O(6)-alkylguanine-DNA alkyltransferase: protection against alkylating agents and sensitization to dibromoalkanes.
Hypermethylation of the DNA repair gene O(6)-methylguanine DNA methyltransferase and survival of patients with diffuse large B-cell lymphoma.
Identification and characterization of novel ligase I inhibitors.
Identification of key genes associated with congenital heart defects in embryos of diabetic mice.
Identification of novel heterozygous Apex 1 gene variant (Glu87Gln) in patients with head and neck cancer of Indian origin.
Impaired lymphocyte development and antibody class switching and increased malignancy in a murine model of DNA ligase IV syndrome.
Importance of the DNA repair enzyme O6-alkyl guanine alkyltransferase (AT) in cancer chemotherapy.
In vitro methylation of the human O6-methylguanine-DNA methyltransferase promoter reduces transcription.
Induction of the DNA repair gene O6-methylguanine-DNA methyltransferase by dexamethasone in glioblastomas.
Inhibiting Mitochondrial DNA Ligase III? Activates Caspase 1-Dependent Apoptosis in Cancer Cells.
Inhibition of O6-alkylguanine DNA-alkyltransferase or poly(ADP-ribose) polymerase increases susceptibility of leukemic cells to apoptosis induced by temozolomide.
Knockdown of WWP1 inhibits growth and induces apoptosis in hepatoma carcinoma cells through the activation of caspase3 and p53.
Knockdown of WWP1 inhibits growth and invasion, but induces apoptosis of osteosarcoma cells.
Levels of the DNA repair enzyme human apurinic/apyrimidinic endonuclease (APE1, APEX, Ref-1) are associated with the intrinsic radiosensitivity of cervical cancers.
Ligase IV inhibitor SCR7 enhances gene editing directed by CRISPR-Cas9 and ssODN in human cancer cells.
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism.
Mammalian DNA ligases. Serological evidence for two separate enzymes.
Mechanisms of genome maintenance and rearrangement: current research and recent advances in DNA repair and recombination.
MGMT Expression Predicts PARP-Mediated Resistance to Temozolomide.
Modeling of Escherichia coli Endonuclease V structure in complex with DNA.
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Modulation of O6-alkylguanine alkyltransferase-directed DNA repair in metastatic colon cancers.
Murine cytotoxic activated macrophages inhibit aconitase in tumor cells. Inhibition involves the iron-sulfur prosthetic group and is reversible.
N-methylpurine DNA glycosylase inhibits p53-mediated cell cycle arrest and coordinates with p53 to determine sensitivity to alkylating agents.
Non-homologous end joining, but not homologous recombination, enables survival for cells exposed to a histone deacetylase inhibitor.
Novel inhibitor of DNA ligase IV with a promising cancer therapeutic potential.
Novel Inhibitors of DNA Repair Enzyme TDP1 Combining Monoterpenoid and Adamantane Fragments.
Novel mechanism of regulation of the DNA repair enzyme OGG1 in tuberin-deficient cells.
Novel somatic mutations identified by whole-exome sequencing in muscle-invasive transitional cell carcinoma of the bladder.
Nucleotide sequence of 42 kbp of vaccinia virus strain WR from near the right inverted terminal repeat.
O-GlcNAcylation of fumarase maintains tumour growth under glucose deficiency.
O6-alkylguanine-DNA alkyltransferase activity in epidermal tumor and normal epidermal cells of mice of various stocks and strains.
O6-alkylguanine-DNA alkyltransferase activity in human brain tumors.
O6-methylguanine DNA methyltransferase and p53 status predict temozolomide sensitivity in human malignant glioma cells.
O6-methylguanine DNA methyltransferase as a promising target for the treatment of temozolomide-resistant gliomas.
O6-methylguanine DNA methyltransferase deficiency and response to temozolomide-based therapy in patients with neuroendocrine tumors.
O?-methylguanine-DNA methyltransferase promoter methylation in 45 primary central nervous system lymphomas: quantitative assessment of methylation and response to temozolomide treatment.
Oncolytic adenovirus-expressed RNA interference of O(6)-methylguanine DNA methyltransferase activity may enhance the antitumor effects of temozolomide.
Overexpression of WWP1 promotes tumorigenesis and predicts unfavorable prognosis in patients with hepatocellular carcinoma.
Oxidative Stress and DNA Damage in Human Gastric Carcinoma: 8-Oxo-7'8-dihydro-2'-deoxyguanosine (8-oxo-dG) as a Possible Tumor Marker.
p53 mutations, O6-alkylguanine DNA alkyltransferase activity, and sensitivity to procarbazine in human brain tumors.
Pharmacokinetics of temozolomide in association with fotemustine in malignant melanoma and malignant glioma patients: comparison of oral, intravenous, and hepatic intra-arterial administration.
Polynucleotide ligase from kidney tumors in rats induced by N-nitrosodimethylamine.
Potent and Selective Inhibitors of 8-Oxoguanine DNA Glycosylase.
Potential roles for Gfi1 in the pathogenesis and proliferation of glioma.
Predictive value of epithelial-mesenchymal-transition (EMT) signature and PARP-1 in prostate cancer radioresistance.
Problem-solving test: analysis of DNA damage recognizing proteins in yeast and human cells.
Promoter CpG Island Hypermethylation of the DNA Repair Enzyme MGMT Predicts Clinical Response to Dacarbazine in a Phase II Study for Metastatic Colorectal Cancer.
Radiation-hypersensitive cancer patients do not manifest protein expression abnormalities in components of the nonhomologous end-joining (NHEJ) pathway.
Reconstitution of complete SV40 DNA replication with purified replication factors.
Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene.
Role of a BRCT domain in the interaction of DNA ligase III-alpha with the DNA repair protein XRCC1.
Role of DNA polymerase ? oxidized nucleotide insertion in DNA ligation failure.
Rs3212986 polymorphism, a possible biomarker to predict smoking-related lung cancer, alters DNA repair capacity via regulating ERCC1 expression.
SCR7 is neither a selective nor a potent inhibitor of human DNA ligase IV.
Simple synthesis of carbon-11-labeled chromen-4-one derivatives as new potential PET agents for imaging of DNA-dependent protein kinase (DNA-PK) in cancer.
Single cell trapping and DNA damage analysis using microwell arrays.
Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase.
Strategies to Improve the Killing of Tumors Using Temozolomide: Targeting the DNA Repair Protein MGMT.
Structure and function of the DNA ligases encoded by the mammalian LIG3 gene.
Synthesis and bio-evaluation of indole-chalcone based benzopyrans as promising antiligase and antiproliferative agents.
Synthesis of 131I-labeled glucose-conjugated inhibitors of O6-methylguanine-DNA methyltransferase (MGMT) and comparison with nonconjugated inhibitors as potential tools for in vivo MGMT imaging.
Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors.
Targeting DNA repair with combination veliparib (ABT-888) and temozolomide in patients with metastatic castration-resistant prostate cancer.
Temozolomide analog PMX 465 downregulates MGMT expression in HCT116 colorectal carcinoma cells.
The clinically active PARP inhibitor AG014699 ameliorates cardiotoxicity but does not enhance the efficacy of doxorubicin, despite improving tumor perfusion and radiation response in mice.
The E3 ubiquitin ligase WWP1 sustains the growth of acute myeloid leukaemia.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
The HIV reverse transcriptase inhibitor tenofovir induces cell cycle arrest in human cancer cells.
The human OGG1 DNA repair enzyme and its association with orolaryngeal cancer risk.
The WW domain containing E3 ubiquitin protein ligase 1 upregulates ErbB2 and EGFR through RING finger protein 11.
Thin layer chromatography-based assay of O6-methylguanine-DNA methyltransferase activity in tissue.
Thyroid carcinomas that express telomerase follow a more aggressive clinical course in children and adolescents.
Transcript signatures that predict outcome and identify targetable pathways in MYCN-amplified neuroblastoma.
Treatment options for malignant gliomas, emphasizing towards new molecularly targeted therapies.
Tuberous sclerosis complex and DNA repair.
Wnt/?-catenin pathway regulates MGMT gene expression in cancer and inhibition of Wnt signalling prevents chemoresistance.
WW domain-containing E3 ubiquitin protein ligase 1 depletion evokes antitumor effect in cutaneous squamous cell carcinoma by inhibiting signal transducer and activator of transcription 3 signaling pathway.
WWP1 as a potential tumor oncogene regulates PTEN-Akt signaling pathway in human gastric carcinoma.
WWP1 delays cellular senescence by promoting p27Kip1 degradation in human diploid fibroblasts.
Neoplasms, Second Primary
DNA repair gene polymorphisms and risk of second primary neoplasms and mortality in oral cancer patients.
Nervous System Diseases
Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Neural Tube Defects
MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta.
Neuroblastoma
Alternative NHEJ Pathway Components Are Therapeutic Targets in High-Risk Neuroblastoma.
Alternative NHEJ pathway proteins as components of MYCN oncogenic activity in human neural crest stem cell differentiation: implications for neuroblastoma initiation.
Cooperation of the HDAC inhibitor vorinostat and radiation in metastatic neuroblastoma: efficacy and underlying mechanisms.
IFN-beta sensitizes neuroblastoma to the antitumor activity of temozolomide by modulating O6-methylguanine DNA methyltransferase expression.
SCR7 is neither a selective nor a potent inhibitor of human DNA ligase IV.
Neurodegenerative Diseases
Bayesian Cox Proportional Hazards Model in Survival Analysis of HACE1 Gene with Age at Onset of Alzheimer's Disease.
Mitochondrial aconitase in Neurodegenerative disorders: role of a metabolism-related molecule in neurodegeneration.
Neuroendocrine Tumors
Clinical and in vitro studies of the correlation between MGMT and the effect of streptozocin in pancreatic NET.
DNA repair enzyme expression and differential response to temozolomide in a patient with both glioblastoma and metastatic pancreatic neuroendocrine tumor.
Nijmegen Breakage Syndrome
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines.
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Identification of proteins in the hamster DNA end-binding complex.
Indicators of late normal tissue response after radiotherapy for head and neck cancer: fibroblasts, lymphocytes, genetics, DNA repair, and chromosome aberrations.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Non-alcoholic Fatty Liver Disease
Beneficial effects of neomangiferin on high fat diet-induced nonalcoholic fatty liver disease in rats.
Oligodendroglioma
Enhanced repair of a cisplatin-damaged reporter chloramphenicol-O-acetyltransferase gene and altered activities of DNA polymerases alpha and beta, and DNA ligase in cells of a human malignant glioma following in vivo cisplatin therapy.
Frequent promoter hypermethylation and low expression of the MGMT gene in oligodendroglial tumors.
Osteoarthritis
The DNA repair enzyme apurinic/apyrimidinic endonuclease (Apex nuclease) 2 has the potential to protect against down-regulation of chondrocyte activity in osteoarthritis.
Osteosarcoma
E2F-1 and a cyclin-like DNA repair enzyme, uracil-DNA glycosylase, provide evidence for an autoregulatory mechanism for transcription.
Ovarian Neoplasms
MicroRNA-497 inhibition of ovarian cancer cell migration and invasion through targeting of SMAD specific E3 ubiquitin protein ligase 1.
Nanoparticle-mediated delivery of siRNA targeting Parp1 extends survival of mice bearing tumors derived from Brca1-deficient ovarian cancer cells.
Ovarian cancer and DNA repair: DNA ligase IV as a potential key.
Pancreatic Neoplasms
Induction of DNA ligase I by 1-beta-D-arabinosylcytosine and aphidicolin in MiaPaCa human pancreatic cancer cells.
Pancytopenia
A novel mutation in a family with DNA ligase IV deficiency syndrome.
Papillomavirus Infections
Expression of Inflammasome-Associated Proteins in Human Oropharyngeal Squamous Cell Carcinoma.
Paralysis
Brain aconitase activity is not decreased in progressive supranuclear palsy.
Parkinson Disease
Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease.
Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson's disease.
Pituitary Neoplasms
Recent clinical and pathophysiological advances in non-functioning pituitary adenomas.
Tanshinone IIA induces apoptosis via inhibition of Wnt/??catenin/MGMT signaling in AtT?20 cells.
Pneumothorax
Pneumothorax Clinic In Macon County, Alabama.
Polyhydramnios
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
DNA ligation in relation to DNA strand breaks in phytohemagglutinin-stimulated blast cells from acute lymphoblastic and nonlymphoblastic leukemia.
Fingerprinting of near-homogeneous DNA ligase I and II from human cells. Similarity of their AMP-binding domains.
Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children.
Progeria
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]
Prostatic Neoplasms
Citrate enhances in vitro metastatic behaviours of PC-3M human prostate cancer cells: status of endogenous citrate and dependence on aconitase and fatty acid synthase.
Co-administration of genistein with doxorubicin-loaded polypeptide nanoparticles weakens the metastasis of malignant prostate cancer by amplifying oxidative damage.
Expression of DNA ligase IV is linked to poor prognosis and characterizes a subset of prostate cancers harboring TMPRSS2:ERG fusion and PTEN deletion.
Genomic analysis of DNA repair genes and androgen signaling in prostate cancer.
Targeting PARP in Prostate Cancer: Novelty, Pitfalls, and Promise.
Protein Deficiency
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Radiation Pneumonitis
Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy.
Retinoblastoma
Death substrates come alive.
UHRF1 depletion sensitizes retinoblastoma cells to chemotherapeutic drugs via downregulation of XRCC4.
Sarcoma
DNA damage by peplomycin and its repair in an in vitro system.
Sarcoma, Avian
DNA ligase and exonuclease activities in virions of rous sarcoma virus.
Sarcoma, Ewing
Characteristic increase in nucleocytoplasmic protein glycosylation by O-GlcNAc in 3T3-L1 adipocyte differentiation.
Sepsis
Staphylococcus Aureus Sepsis and Mitochondrial Accrual of OGG1 DNA Repair Enzyme in Mice.
Severe Combined Immunodeficiency
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.
DNA ligase IV syndrome; a review.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Nijmegen breakage syndrome (NBS).
Omenn syndrome is associated with mutations in DNA ligase IV.
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Silicosis
[Study of lipid metabolism in the lungs in experimental silicosis i rats. Activity of lung lupases and aconitase]
Skin Neoplasms
Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases.
Reduced ultraviolet-induced DNA damage and apoptosis in human skin with topical application of a photolyase-containing DNA repair enzyme cream: clues to skin cancer prevention.
Ultraviolet A radiation: its role in immunosuppression and carcinogenesis.
Xeroderma pigmentosum--bridging a gap between clinic and laboratory.
Smallpox
Nucleotide sequence of 21.8 kbp of variola major virus strain Harvey and comparison with vaccinia virus.
Smooth Muscle Tumor
Altered post-translational modification of redox factor 1 protein in human uterine smooth muscle tumors.
steroid 21-monooxygenase deficiency
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Stomach Neoplasms
Biomarkers of individual susceptibility to carcinogens: application for biological monitoring.
Decreased expression of the mitochondrial metabolic enzyme aconitase (ACO2) is associated with poor prognosis in gastric cancer.
Higher Expression of ERCC1 May Be Associated with Resistance to Adjuvant Platinum-Based Chemotherapy in Gastric Cancer.
Loss of expression of DNA repair enzymes MGMT, hMLH1, and hMSH2 during tumor progression in gastric cancer.
Overexpression of miR-584-5p inhibits proliferation and induces apoptosis by targeting WW domain-containing E3 ubiquitin protein ligase 1 in gastric cancer.
Stroke
Circular RNA DLGAP4 Ameliorates Ischemic Stroke Outcomes by Targeting miR-143 to Regulate Endothelial-Mesenchymal Transition Associated with Blood-Brain Barrier Integrity.
Polymorphism of PARP-1 indicates an increased risk and a worse initial severity of ischemic stroke.
Subacute Sclerosing Panencephalitis
Common buffers, media, and stock solutions.
Supranuclear Palsy, Progressive
Brain aconitase activity is not decreased in progressive supranuclear palsy.
Telangiectasis
DNA repair deficient photodermatoses.
Mechanisms of genome maintenance and rearrangement: current research and recent advances in DNA repair and recombination.
Tuberculosis
Biochemical and genetic analysis of the four DNA ligases of mycobacteria.
Characterization of the roles of the catalytic domains of Mycobacterium tuberculosis ligase D in Ku-dependent error-prone DNA end joining.
Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.
Domain structure of a NHEJ DNA repair ligase from Mycobacterium tuberculosis.
Expression of Mycobacterium tuberculosis Ku and Ligase D in Escherichia coli results in RecA and RecB-independent DNA end-joining at regions of microhomology.
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
Identification of fur, aconitase, and other proteins expressed by Mycobacterium tuberculosis under conditions of low and high concentrations of iron by combined two-dimensional gel electrophoresis and mass spectrometry.
Iron-dependent RNA-binding activity of Mycobacterium tuberculosis aconitase.
Mycobacteria exploit three genetically distinct DNA double-strand break repair pathways.
Mycobacterial Ku and ligase proteins constitute a two-component NHEJ repair machine.
Mycobacterium tuberculosis and Mycobacterium marinum non-homologous end-joining proteins can function together to join DNA ends in Escherichia coli.
Mycobacterium tuberculosis NAD+-dependent DNA ligase is selectively inhibited by glycosylamines compared with human DNA ligase I.
Mycobacterium tuberculosis Rv1474c is a TetR-like transcriptional repressor that regulates aconitase, an essential enzyme and RNA-binding protein, in an iron-responsive manner.
Naphthalimides Selectively Inhibit the Activity of Bacterial, Replicative DNA Ligases and Display Bactericidal Effects against Tubercle Bacilli.
Pathways for double-strand break repair in genetically unstable Z-DNA-forming sequences.
Structures of ATP-bound DNA ligase D in a closed domain conformation reveal a network of amino acid and metal contacts to the ATP phosphates.
Toward the virtual screening of potential drugs in the homology modeled NAD+ dependent DNA ligase from Mycobacterium tuberculosis.
Tricyclic dihydrobenzoxazepine and tetracyclic indole derivatives can specifically target bacterial DNA ligases and can distinguish them from human DNA ligase I.
Tuberous Sclerosis
Novel mechanism of regulation of the DNA repair enzyme OGG1 in tuberin-deficient cells.
Tumor Virus Infections
Characterization of the Shope fibroma virus DNA ligase gene.
Uterine Cervical Neoplasms
Human DNA ligase i (ligi) gene and risk of cervical cancer in North Indian women.
The apurinic/apyrimidinic endonuclease (APE/ref-1) DNA repair enzyme is elevated in premalignant and malignant cervical cancer.
Vaccinia
A DNA ligase gene in the Copenhagen strain of vaccinia virus is nonessential for viral replication and recombination.
An etoposide-induced block in vaccinia virus telomere resolution is dependent on the virus-encoded DNA ligase.
Cellular DNA ligase I is recruited to cytoplasmic vaccinia virus factories and masks the role of the vaccinia ligase in viral DNA replication.
Characterization of a baculovirus-encoded ATP-dependent DNA ligase.
Characterization of DNA ligase from the fungus Coprinus cinereus.
Construction of a vaccinia virus deficient in the essential DNA repair enzyme uracil DNA glycosylase by a complementing cell line.
Deletion of fowlpox virus homologues of vaccinia virus genes between the 3 beta-hydroxysteroid dehydrogenase (A44L) and DNA ligase (A50R) genes.
DNA ligase gene disruptions can depress viral growth and replication in poxvirus-infected cells.
Domain structure of vaccinia DNA ligase.
Identification of novel antipoxviral agents: mitoxantrone inhibits vaccinia virus replication by blocking virion assembly.
Intercalating polycyclic aromatic hydrocarbon-DNA adducts poison DNA religation by Vaccinia topoisomerase and act as roadblocks to digestion by exonuclease III.
Ligation of double-stranded and single-stranded [oligo(dT)] DNA by vaccinia virus DNA ligase.
Ligation of RNA-containing duplexes by vaccinia DNA ligase.
Mammalian DNA ligase II is highly homologous with vaccinia DNA ligase. Identification of the DNA ligase II active site for enzyme-adenylate formation.
Mammalian DNA ligases. Catalytic domain and size of DNA ligase I.
Molecular characterisation of a DNA ligase gene of the extremely thermophilic archaeon Desulfurolobus ambivalens shows close phylogenetic relationship to eukaryotic ligases.
Mutagenic repair of double-stranded DNA breaks in vaccinia virus genomes requires cellular DNA ligase IV activity in the cytosol.
Mutational analysis of vaccinia DNA ligase defines residues essential for covalent catalysis.
Nick sensing by vaccinia virus DNA ligase requires a 5' phosphate at the nick and occupancy of the adenylate binding site on the enzyme.
Nucleotide sequence of 21.8 kbp of variola major virus strain Harvey and comparison with vaccinia virus.
Polynucleotide ligase activity in cells infected with simian virus 40, polyoma virus, or vaccinia virus.
Properties of DNA ligase from uninfected and virus-infected HeLa cells.
Purification and characterization of DNA ligase I from the trypanosomatid Crithidia fasciculata.
Purification and characterization of DNA ligase III from bovine testes. Homology with DNA ligase II and vaccinia DNA ligase.
Reduced DNA ligase activity in etoposide resistant human lymphatic leukaemia CEM cells.
Transcriptional mapping and nucleotide sequence of a vaccinia virus gene encoding a polypeptide with extensive homology to DNA ligases.
Vaccinia DNA ligase complements Saccharomyces cerevisiae cdc9, localizes in cytoplasmic factories and affects virulence and virus sensitivity to DNA damaging agents.
Vaccinia virus DNA ligase is nonessential for virus replication: recovery of plasmids from virus-infected cells.
Vaccinia virus DNA ligase recruits cellular topoisomerase II to sites of viral replication and assembly.
Vaccinia virus DNA ligase: specificity, fidelity, and inhibition.
Vaccinia virus encodes a polypeptide with DNA ligase activity.
Ventilator-Induced Lung Injury
Mitochondrial Targeted Endonuclease III DNA Repair Enzyme Protects against Ventilator Induced Lung Injury in Mice.
Mitochondrial-targeted DNA repair enzyme 8-oxoguanine DNA glycosylase 1 protects against ventilator-induced lung injury in intact mice.
Virus Diseases
Insufficiency of DNA repair enzyme ATM promotes naive CD4 T-cell loss in chronic hepatitis C virus infection.
Vaccinia virus encodes a polypeptide with DNA ligase activity.
Werner Syndrome
Identification of proteins in the hamster DNA end-binding complex.
Up-regulation of WRN and DNA ligase IIIalpha in chronic myeloid leukemia: consequences for the repair of DNA double-strand breaks.
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]
Wiskott-Aldrich Syndrome
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Xeroderma Pigmentosum
Accelerated telomere shortening and telomere abnormalities in radiosensitive cell lines.
Dietary berries and ellagic Acid prevent oxidative DNA damage and modulate expression of DNA repair genes.
DNA ligase activity in carcinogen-treated human fibroblasts.
DNA repair XRCC1 Arg399Gln polymorphism is associated with the risk of development of end-stage renal disease.
Enhanced DNA repair of cyclobutane pyrimidine dimers changes the biological response to UV-B radiation.
Enhanced unscheduled DNA synthesis in UV-irradiated human skin explants treated with T4N5 liposomes.
Enhancement of ultraviolet-DNA repair in denV gene transfectants and T4 endonuclease V-liposome recipients.
Enzyme therapy of xeroderma pigmentosum: safety and efficacy testing of T4N5 liposome lotion containing a prokaryotic DNA repair enzyme.
Four radiation hypersensitivity cases and their implications for clinical radiotherapy.
Genesis of the strand-biased signature in somatic hypermutation of rearranged immunoglobulin variable genes.
Imiquimod-Induced TLR7 Signaling Enhances Repair of DNA Damage Induced by Ultraviolet Light in Bone Marrow-Derived Cells.
Mechanisms of genome maintenance and rearrangement: current research and recent advances in DNA repair and recombination.
Poly(ADP-ribose) binds to specific domains in DNA damage checkpoint proteins.
Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development.
Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG).
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese.
Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration.
Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases.
The role of protein binding of trivalent arsenicals in arsenic carcinogenesis and toxicity.