Disease on EC 4.2.1.2 - fumarate hydratase and Organism(s) Homo sapiens and UniProt Accession P07954
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Acidosis
Extracellular Acidosis Modulates the Expression of Epithelial-Mesenchymal Transition (EMT) Markers and Adhesion of Epithelial and Tumor Cells.
Acquired Immunodeficiency Syndrome
Post-translational Modifications of Fumarase Regulate its Enzyme Activity and Function in Respiration and the DNA Damage Response.
Acute Kidney Injury
Fumarase activity: an in vivo and in vitro biomarker for acute kidney injury.
Adenocarcinoma
Inactivation of metabolic enzymes by photo-treatment with zinc meta N-methylpyridylporphyrin.
Adenomatous Polyposis Coli
Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors.
Adrenocortical Adenoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Anemia, Sickle Cell
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Ataxia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Ataxia Telangiectasia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Brain Diseases
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Brain Diseases
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Brain Diseases
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Brain Diseases
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
Brain Diseases
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
Breast Neoplasms
No evidence for promoter region methylation of the succinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer.
Breast Neoplasms
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
Carcinogenesis
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
Carcinogenesis
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Carcinogenesis
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
Carcinogenesis
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Carcinogenesis
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Carcinogenesis
Perturbations in hypoxia detection: A shared link between hereditary and sporadic tumor formation?
Carcinogenesis
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer.
Carcinogenesis
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
Carcinogenesis
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.
Carcinogenesis
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Carcinoma
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
Carcinoma
A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.
Carcinoma
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
Carcinoma
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Carcinoma
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
Carcinoma
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Carcinoma
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Carcinoma
An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma.
Carcinoma
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Carcinoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Carcinoma
Changes induced by Ehrlich ascites carcinoma in hepatic fumarase and aconitase activities.
Carcinoma
Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.
Carcinoma
Commentary on: "Comprehensive molecular characterization of papillary renal-cell carcinoma." Cancer Genome Atlas Research Network.: N Engl J Med. 2016 Jan 14;374(2):135-45.
Carcinoma
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Carcinoma
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Carcinoma
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Carcinoma
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Carcinoma
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Carcinoma
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Carcinoma
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Carcinoma
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Carcinoma
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Carcinoma
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Carcinoma
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Carcinoma
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Carcinoma
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Carcinoma
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Carcinoma
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Carcinoma
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Carcinoma
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Carcinoma
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Carcinoma
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Carcinoma
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Carcinoma
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Carcinoma
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase.
Carcinoma
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Carcinoma
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Carcinoma
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
Carcinoma
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Carcinoma
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Carcinoma
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Carcinoma
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Carcinoma
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Carcinoma
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Carcinoma
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Carcinoma
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Carcinoma
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Carcinoma
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Carcinoma
Re-evaluation of 33 "Unclassified" Eosinophilic Renal Cell Carcinomas in Young Patients.
Carcinoma
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Carcinoma
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Carcinoma
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Carcinoma
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Carcinoma
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
Carcinoma
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Carcinoma
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Carcinoma
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
Carcinoma
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Carcinoma
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Carcinoma
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Carcinoma
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
Carcinoma
[FH-deficient renal cell carcinoma expands the spectrum of renal papillary tumors].
Carcinoma, Basal Cell
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Carcinoma, Medullary
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
Carcinoma, Papillary
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Carcinoma, Renal Cell
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
Carcinoma, Renal Cell
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
Carcinoma, Renal Cell
A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.
Carcinoma, Renal Cell
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
Carcinoma, Renal Cell
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Carcinoma, Renal Cell
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
Carcinoma, Renal Cell
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Carcinoma, Renal Cell
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Carcinoma, Renal Cell
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Carcinoma, Renal Cell
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Carcinoma, Renal Cell
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Carcinoma, Renal Cell
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Carcinoma, Renal Cell
An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma.
Carcinoma, Renal Cell
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Carcinoma, Renal Cell
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Carcinoma, Renal Cell
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Carcinoma, Renal Cell
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Carcinoma, Renal Cell
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Carcinoma, Renal Cell
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Carcinoma, Renal Cell
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Carcinoma, Renal Cell
Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.
Carcinoma, Renal Cell
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Carcinoma, Renal Cell
Conventional renal cancer in a patient with fumarate hydratase mutation.
Carcinoma, Renal Cell
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Carcinoma, Renal Cell
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Carcinoma, Renal Cell
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
Carcinoma, Renal Cell
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Carcinoma, Renal Cell
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Carcinoma, Renal Cell
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Carcinoma, Renal Cell
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Carcinoma, Renal Cell
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Carcinoma, Renal Cell
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Carcinoma, Renal Cell
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Carcinoma, Renal Cell
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Carcinoma, Renal Cell
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Carcinoma, Renal Cell
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Carcinoma, Renal Cell
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Carcinoma, Renal Cell
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Carcinoma, Renal Cell
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Carcinoma, Renal Cell
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Carcinoma, Renal Cell
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Carcinoma, Renal Cell
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Carcinoma, Renal Cell
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Carcinoma, Renal Cell
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Carcinoma, Renal Cell
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Carcinoma, Renal Cell
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Carcinoma, Renal Cell
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Carcinoma, Renal Cell
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Carcinoma, Renal Cell
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Carcinoma, Renal Cell
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Carcinoma, Renal Cell
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Carcinoma, Renal Cell
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Carcinoma, Renal Cell
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Carcinoma, Renal Cell
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Carcinoma, Renal Cell
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Carcinoma, Renal Cell
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Carcinoma, Renal Cell
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Carcinoma, Renal Cell
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Carcinoma, Renal Cell
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
Carcinoma, Renal Cell
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Carcinoma, Renal Cell
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Carcinoma, Renal Cell
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Carcinoma, Renal Cell
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Carcinoma, Renal Cell
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Carcinoma, Renal Cell
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Carcinoma, Renal Cell
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Carcinoma, Renal Cell
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Carcinoma, Renal Cell
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Carcinoma, Renal Cell
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Carcinoma, Renal Cell
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase.
Carcinoma, Renal Cell
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Carcinoma, Renal Cell
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Carcinoma, Renal Cell
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Carcinoma, Renal Cell
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Carcinoma, Renal Cell
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Carcinoma, Renal Cell
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Carcinoma, Renal Cell
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Carcinoma, Renal Cell
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Carcinoma, Renal Cell
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Carcinoma, Renal Cell
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
Carcinoma, Renal Cell
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
Carcinoma, Renal Cell
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Carcinoma, Renal Cell
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Carcinoma, Renal Cell
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Carcinoma, Renal Cell
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Carcinoma, Renal Cell
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Carcinoma, Renal Cell
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Carcinoma, Renal Cell
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Carcinoma, Renal Cell
Multiple hits for the association of uterine fibroids on human chromosome 1q43.
Carcinoma, Renal Cell
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Carcinoma, Renal Cell
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Carcinoma, Renal Cell
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Carcinoma, Renal Cell
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Carcinoma, Renal Cell
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Carcinoma, Renal Cell
Novel mutation in the fumarate hydratase gene in a patient with Reed syndrome.
Carcinoma, Renal Cell
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Carcinoma, Renal Cell
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Carcinoma, Renal Cell
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Carcinoma, Renal Cell
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Carcinoma, Renal Cell
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Carcinoma, Renal Cell
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Carcinoma, Renal Cell
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Carcinoma, Renal Cell
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Carcinoma, Renal Cell
Re-evaluation of 33 "Unclassified" Eosinophilic Renal Cell Carcinomas in Young Patients.
Carcinoma, Renal Cell
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Carcinoma, Renal Cell
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Carcinoma, Renal Cell
Reductive carboxylation supports growth in tumour cells with defective mitochondria.
Carcinoma, Renal Cell
Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas.
Carcinoma, Renal Cell
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Carcinoma, Renal Cell
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Carcinoma, Renal Cell
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
Carcinoma, Renal Cell
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Carcinoma, Renal Cell
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Carcinoma, Renal Cell
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Carcinoma, Renal Cell
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
Carcinoma, Renal Cell
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
Carcinoma, Renal Cell
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
Carcinoma, Renal Cell
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
Carcinoma, Renal Cell
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Carcinoma, Renal Cell
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Carcinoma, Renal Cell
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Carcinoma, Renal Cell
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
Carcinoma, Renal Cell
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Carcinoma, Renal Cell
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Carcinoma, Renal Cell
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Carcinoma, Renal Cell
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Carcinoma, Renal Cell
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Carcinoma, Renal Cell
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
Carcinoma, Renal Cell
[FH-deficient renal cell carcinoma expands the spectrum of renal papillary tumors].
Cataract
Protective effects of ibuprofen and its major metabolites against in vitro inactivation of catalase and fumarase: relevance to cataract.
Cholera
Evidence that levels of malate dehydrogenase and fumarase are increased by cAMP in rat myotubes.
Chondroma
IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas.
Chondrosarcoma
IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas.
Cystadenoma
Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase.
Cystadenoma
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Cystadenoma, Mucinous
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Cysts
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Cysts
Effects of mebendazole, albendazole, and praziquantel on fumarate hydratase, pyruvate kinase, and phosphoenolpyruvate carboxykinase of Echinococcus granulosus cyst wall harbored in mice.
Cysts
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Cysts
Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling.
Cysts
Sarcocystis fusiformis: some Krebs cycle enzymes in various fractions of sarcocysts of buffalo (Bubalus bubalis).
Cysts
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Dehydration
A microcalorimetric sensor for food and cosmetic analyses: l-Malic acid determination.
Dehydration
Ethanolic dehydration and its effect on membrane-bound enzymes of Chlorogloeopsis fritschii and Chlorella pyrenoidosa.
Dehydration
Secondary isotope effects in the dehydration of malic acid by fumarate hydratase.
Diabetes Mellitus, Type 1
Hyperpolarized [1,4-13C]fumarate imaging detects microvascular complications and hypoxia mediated cell death in diabetic nephropathy.
Diabetes Mellitus, Type 2
Dysregulation of Glucagon Secretion by Hyperglycemia-Induced Sodium-Dependent Reduction of ATP Production.
Diabetic Nephropathies
Fumarate accumulation involved in renal diabetic fibrosis in Goto-Kakizaki rats.
dihydrolipoyl dehydrogenase deficiency
The expanding clinical spectrum of mitochondrial diseases.
Esthesioneuroblastoma, Olfactory
Durable Major Response With Pazopanib in Recurrent, Heavily Pretreated Metastatic Esthesioneuroblastoma Harboring a Fumarate Hydratase Mutation.
Friedreich Ataxia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
fumarate hydratase deficiency
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency.
fumarate hydratase deficiency
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
fumarate hydratase deficiency
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
fumarate hydratase deficiency
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
fumarate hydratase deficiency
Clinical and biochemical heterogeneity associated with fumarase deficiency.
fumarate hydratase deficiency
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
fumarate hydratase deficiency
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
fumarate hydratase deficiency
Combined metabolomic and correlation networks analyses reveal fumarase insufficiency altered amino acid metabolism.
fumarate hydratase deficiency
Congenital fumarase deficiency presenting with hypotonia and areflexia.
fumarate hydratase deficiency
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
fumarate hydratase deficiency
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
fumarate hydratase deficiency
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
fumarate hydratase deficiency
Flux-balance analysis of mitochondrial energy metabolism: consequences of systemic stoichiometric constraints.
fumarate hydratase deficiency
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia.
fumarate hydratase deficiency
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
fumarate hydratase deficiency
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
fumarate hydratase deficiency
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
fumarate hydratase deficiency
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
fumarate hydratase deficiency
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
fumarate hydratase deficiency
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
fumarate hydratase deficiency
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
fumarate hydratase deficiency
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
fumarate hydratase deficiency
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
fumarate hydratase deficiency
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
fumarate hydratase deficiency
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
fumarate hydratase deficiency
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.
fumarate hydratase deficiency
Fumaric aciduria: an overview and the first Brazilian case report.
fumarate hydratase deficiency
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
fumarate hydratase deficiency
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
fumarate hydratase deficiency
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
fumarate hydratase deficiency
Infantile Metabolic Encephalopathy Due to Fumarase Deficiency.
fumarate hydratase deficiency
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
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.
fumarate hydratase deficiency
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
fumarate hydratase deficiency
Molecular and biochemical investigations in fumarase deficiency.
fumarate hydratase deficiency
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
fumarate hydratase deficiency
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
fumarate hydratase deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
fumarate hydratase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
fumarate hydratase deficiency
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
fumarate hydratase deficiency
The fumarase genes of Escherichia coli: location of the fumB gene and discovery of a new gene (fumC).
fumarate hydratase deficiency
Uterine myomas: Clinical impact and pathophysiological bases.
fumarate hydratase deficiency
Variability of clinical presentation in fumarate hydratase deficiency.
fumarate hydratase deficiency
[Uterine leiomyoma with fumarate hydratase deficiency: a clinicopathological observation of 3 cases].
Genetic Diseases, Inborn
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Giant Axonal Neuropathy
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Hepatitis
[Mitochondrial alterations in experimental hepatitis due to MHV 3 virus: activation and release of fumarase and rhodanese]
Hepatitis, Autoimmune
Fumarate hydratase-specific T cell response in Chinese patients with autoimmune hepatitis.
Hydrocephalus
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
hydroxymethylglutaryl-coa lyase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Hyperglycemia
Dysregulation of Glucagon Secretion by Hyperglycemia-Induced Sodium-Dependent Reduction of ATP Production.
Hypertension
Analysis of metabolites in plasma reveals distinct metabolic features between Dahl salt-sensitive rats and consomic SS.13(BN) rats.
Hypertension
Combined metabolomic and correlation networks analyses reveal fumarase insufficiency altered amino acid metabolism.
Hypertension
Elevation of fumarase attenuates hypertension and can result from a nonsynonymous sequence variation or increased expression depending on rat strain.
Hypertension
Fumarase Overexpression Abolishes Hypertension Attributable to endothelial NO synthase Haploinsufficiency in Dahl Salt-Sensitive Rats.
Hypertension
Fumarate exerted an antihypertensive effect and reduced kidney injury molecule (KIM)-1 expression in deoxycorticosterone acetate-salt hypertension.
Hypertension
Insufficient fumarase contributes to hypertension by an imbalance of redox metabolism in Dahl salt-sensitive rats.
Hypertension
Malate and Aspartate Increase L-Arginine and Nitric Oxide and Attenuate Hypertension.
Infections
iTRAQ-based proteomic profile analysis of ISKNV-infected CPB cells with emphasizing on glucose metabolism, apoptosis and autophagy pathways.
Infertility, Male
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma.
Infertility, Male
The development of a qualitative assay for male infertility from a study of enzymes in human semen.
Insulin Resistance
Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis and Insulin Resistance.
Intellectual Disability
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Intellectual Disability
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.
Iron Deficiencies
Perturbation of mitochondrial composition in muscle by iron deficiency. Implications regarding regulation of mitochondrial assembly.
Kidney Neoplasms
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer.
Kidney Neoplasms
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Kidney Neoplasms
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Kidney Neoplasms
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Kidney Neoplasms
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Kidney Neoplasms
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Kidney Neoplasms
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Kidney Neoplasms
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Kidney Neoplasms
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Kidney Neoplasms
Fumarate induces redox-dependent senescence by modifying glutathione metabolism.
Kidney Neoplasms
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Kidney Neoplasms
Fumarate Upregulates Surface Expression of ULBP2/ULBP5 by Scavenging Glutathione Antioxidant Capacity.
Kidney Neoplasms
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Kidney Neoplasms
Genetic basis of kidney cancer: role of genomics for the development of disease-based therapeutics.
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
Kidney Neoplasms
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Kidney Neoplasms
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.
Kidney Neoplasms
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.
Kidney Neoplasms
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Kidney Neoplasms
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Kidney Neoplasms
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Kidney Neoplasms
Perturbations in hypoxia detection: A shared link between hereditary and sporadic tumor formation?
Kidney Neoplasms
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Kidney Neoplasms
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Kidney Neoplasms
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Kidney Neoplasms
Targeting ABL1-mediated oxidative stress adaptation in fumarate hydratase-deficient cancer.
Kidney Neoplasms
The Oncometabolite Fumarate Promotes Pseudohypoxia Through Noncanonical Activation of NF-?B Signaling.
Kidney Neoplasms
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
Kidney Neoplasms
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]
Leiomyoma
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Leiomyoma
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Leiomyoma
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Leiomyoma
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Leiomyoma
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Leiomyoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Leiomyoma
Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.
Leiomyoma
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Leiomyoma
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Leiomyoma
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Leiomyoma
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Leiomyoma
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Leiomyoma
Family history of uterine fibroids associated with low level of fumarate hydratase in leiomyomata cells.
Leiomyoma
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Leiomyoma
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Leiomyoma
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Leiomyoma
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Leiomyoma
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Leiomyoma
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Leiomyoma
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Leiomyoma
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Leiomyoma
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Leiomyoma
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Leiomyoma
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
Leiomyoma
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Leiomyoma
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Leiomyoma
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Leiomyoma
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
Leiomyoma
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Leiomyoma
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Leiomyoma
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Leiomyoma
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.
Leiomyoma
Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.
Leiomyoma
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Leiomyoma
Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.
Leiomyoma
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Leiomyoma
Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.
Leiomyoma
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Leiomyoma
Leiomyoma with Bizarre Nuclei: a Study of 108 Cases Focusing on Clinicopathological Features, Morphology, and Fumarate Hydratase Alterations.
Leiomyoma
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Leiomyoma
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Leiomyoma
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Leiomyoma
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.
Leiomyoma
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Leiomyoma
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Leiomyoma
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Leiomyoma
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Leiomyoma
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Leiomyoma
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Leiomyoma
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Leiomyoma
Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy.
Leiomyoma
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Leiomyoma
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
Leiomyoma
Two Subtypes of Atypical Leiomyoma: Clinical, Histologic, and Molecular Analysis.
Leiomyoma
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Leiomyoma
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Leiomyoma
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
Leiomyoma
[Uterine leiomyoma with fumarate hydratase deficiency: a clinicopathological observation of 3 cases].
Leiomyomatosis
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
Leiomyomatosis
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
Leiomyomatosis
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Leiomyomatosis
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
Leiomyomatosis
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
Leiomyomatosis
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Leiomyomatosis
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Leiomyomatosis
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Leiomyomatosis
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Leiomyomatosis
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Leiomyomatosis
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Leiomyomatosis
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.
Leiomyomatosis
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Leiomyomatosis
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Leiomyomatosis
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Leiomyomatosis
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Leiomyomatosis
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Leiomyomatosis
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Leiomyomatosis
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Leiomyomatosis
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Leiomyomatosis
Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase.
Leiomyomatosis
Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas.
Leiomyomatosis
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Leiomyomatosis
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Leiomyomatosis
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
Leiomyomatosis
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Leiomyomatosis
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Leiomyomatosis
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Leiomyomatosis
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Leiomyomatosis
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Leiomyomatosis
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
Leiomyomatosis
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Leiomyomatosis
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Leiomyomatosis
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Leiomyomatosis
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Leiomyomatosis
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Leiomyomatosis
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Leiomyomatosis
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Leiomyomatosis
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Leiomyomatosis
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Leiomyomatosis
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Leiomyomatosis
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Leiomyomatosis
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Leiomyomatosis
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Leiomyomatosis
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Leiomyomatosis
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Leiomyomatosis
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Leiomyomatosis
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Leiomyomatosis
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Leiomyomatosis
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Leiomyomatosis
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Leiomyomatosis
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Leiomyomatosis
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Leiomyomatosis
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Leiomyomatosis
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Leiomyomatosis
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Leiomyomatosis
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Leiomyomatosis
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Leiomyomatosis
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Leiomyomatosis
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Leiomyomatosis
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Leiomyomatosis
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Leiomyomatosis
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Leiomyomatosis
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Leiomyomatosis
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Leiomyomatosis
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Leiomyomatosis
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Leiomyomatosis
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Leiomyomatosis
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Leiomyomatosis
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Leiomyomatosis
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Leiomyomatosis
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Leiomyomatosis
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Leiomyomatosis
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Leiomyomatosis
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Leiomyomatosis
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
Leiomyomatosis
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Leiomyomatosis
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Leiomyomatosis
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Leiomyomatosis
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Leiomyomatosis
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Leiomyomatosis
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Leiomyomatosis
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Leiomyomatosis
Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene.
Leiomyomatosis
Multiple hits for the association of uterine fibroids on human chromosome 1q43.
Leiomyomatosis
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Leiomyomatosis
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Leiomyomatosis
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Leiomyomatosis
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Leiomyomatosis
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Leiomyomatosis
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Leiomyomatosis
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Leiomyomatosis
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Leiomyomatosis
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Leiomyomatosis
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Leiomyomatosis
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Leiomyomatosis
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Leiomyomatosis
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Leiomyomatosis
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Leiomyomatosis
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Leiomyomatosis
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Leiomyomatosis
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Leiomyomatosis
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Leiomyomatosis
Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.
Leiomyomatosis
Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Leiomyomatosis
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Leiomyomatosis
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Leiomyomatosis
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
Leiomyomatosis
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
Leiomyomatosis
The Oncometabolite Fumarate Promotes Pseudohypoxia Through Noncanonical Activation of NF-?B Signaling.
Leiomyomatosis
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
Leiomyomatosis
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Leiomyomatosis
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Leiomyomatosis
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Leiomyomatosis
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
Leiomyomatosis
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Leiomyomatosis
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Leiomyomatosis
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Leiomyomatosis
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Leiomyomatosis
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
Leiomyomatosis
[Development of human renal cell carcinoma (RCC)--the responsible genes for the development of hereditary and sporadic human RCCs]
Leiomyomatosis
[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report].
Leiomyomatosis
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]
Leiomyosarcoma
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer.
Leiomyosarcoma
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Leiomyosarcoma
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Leiomyosarcoma
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Leiomyosarcoma
Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of fumarate hydratase gene.
Leiomyosarcoma
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Leiomyosarcoma
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Leishmaniasis
Structural and Biochemical Investigations of the [4Fe-4S] Cluster-Containing Fumarate Hydratase from Leishmania major.
Leukopenia
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.
Lung Neoplasms
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
Lung Neoplasms
PAK4 phosphorylates fumarase and blocks TGF-?-induced cell growth arrest in lung cancer cells.
Malaria
Suppression of experimental cerebral malaria by disruption of malate:quinone oxidoreductase.
Melanoma
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic Diseases
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
Mevalonate Kinase Deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Microcephaly
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Mitochondrial Encephalomyopathies
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Multiple Carboxylase Deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Multiple Endocrine Neoplasia
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Multiple Endocrine Neoplasia Type 1
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Muscle Hypotonia
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Muscle Hypotonia
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Muscle Hypotonia
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.
Muscle Neoplasms
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Myxoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Myxoma
Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma".
Myxoma
Response to Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patients With Cortisol-Secreting Adrenocortical Adenoma".
Neoplasm Metastasis
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Neoplasm Metastasis
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Neoplasm Metastasis
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
Neoplasms
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
Neoplasms
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
Neoplasms
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Neoplasms
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Neoplasms
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
Neoplasms
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Neoplasms
A two-dimensional screen for AMPK substrates identifies tumor suppressor fumarate hydratase as a preferential AMPK?2 substrate.
Neoplasms
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Neoplasms
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Neoplasms
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
Neoplasms
Acquired Cystic Disease-associated Renal Cell Carcinoma (ACD-RCC): A Multiinstitutional Study of 40 Cases With Clinical Follow-up.
Neoplasms
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Neoplasms
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Neoplasms
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Neoplasms
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
Neoplasms
Cancer and Altered Metabolism: Potential Importance of Hypoxia-Inducible Factor and 2-Oxoglutarate-Dependent Dioxygenases.
Neoplasms
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Neoplasms
Cell-permeating alpha-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells.
Neoplasms
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Neoplasms
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Neoplasms
Chromatin Remodeling Factor LSH Drives Cancer Progression by Suppressing the Activity of Fumarate Hydratase.
Neoplasms
Chromatographic methods coupled to mass spectrometry for the determination of oncometabolites in biological samples-A review.
Neoplasms
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Neoplasms
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Neoplasms
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Neoplasms
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Neoplasms
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Neoplasms
Contemporary Characterization and Recategorization of Adult Unclassified Renal Cell Carcinoma.
Neoplasms
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Neoplasms
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Neoplasms
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Neoplasms
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
Neoplasms
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Neoplasms
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Neoplasms
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Neoplasms
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Neoplasms
Erratum to: Chromatin remodeling factor LSH affects fumarate hydratase as a cancer driver.
Neoplasms
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Neoplasms
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Neoplasms
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Neoplasms
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Neoplasms
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Neoplasms
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Neoplasms
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
Neoplasms
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Neoplasms
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response.
Neoplasms
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
Neoplasms
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Neoplasms
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Neoplasms
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Neoplasms
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Neoplasms
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Neoplasms
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Neoplasms
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Neoplasms
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Neoplasms
Fumarate hydratase inactivation in renal tumors: HIF1?, NRF2, and "cryptic targets" of transcription factors.
Neoplasms
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Neoplasms
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Neoplasms
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Neoplasms
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Neoplasms
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Neoplasms
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Neoplasms
Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
Neoplasms
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Neoplasms
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
Neoplasms
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Neoplasms
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Neoplasms
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Neoplasms
Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
Neoplasms
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Neoplasms
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Neoplasms
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Neoplasms
Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC): A Rapid Autopsy Report of Metastatic Renal Cell Carcinoma.
Neoplasms
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Neoplasms
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Neoplasms
Hydrophilic interaction liquid chromatography coupled with MS/MS to detect and quantify dicarboxyethyl glutathione, a metabolic biomarker of the fumarate hydratase deficient cancer cell.
Neoplasms
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Neoplasms
Identification of zebrafish fumarate hydratase active site by molecular docking and simulation studies.
Neoplasms
Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.
Neoplasms
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Neoplasms
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Neoplasms
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Neoplasms
Inhibition of ?-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
Neoplasms
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Neoplasms
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Neoplasms
Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), fumarate hydratase (FH): three players for one phenotype in cancer?
Neoplasms
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Neoplasms
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Neoplasms
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Neoplasms
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Neoplasms
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Neoplasms
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Neoplasms
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Neoplasms
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Neoplasms
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Neoplasms
Mitochondrial dysfunctions in cancer: Genetic defects and oncogenic signaling impinging on TCA cycle activity.
Neoplasms
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Neoplasms
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Neoplasms
Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases.
Neoplasms
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Neoplasms
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
Neoplasms
New HIF2? inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Neoplasms
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Neoplasms
No evidence for promoter region methylation of the succinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer.
Neoplasms
No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.
Neoplasms
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Neoplasms
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Neoplasms
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Neoplasms
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Neoplasms
Nrf2 gene mutation and single nucleotide polymorphism rs6721961 of the Nrf2 promoter region in renal cell cancer.
Neoplasms
Oncometabolite Accumulation and Epithelial-to-Mesenchymal Transition: The Turn of Fumarate.
Neoplasms
PAK4 phosphorylates fumarase and blocks TGF-?-induced cell growth arrest in lung cancer cells.
Neoplasms
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Neoplasms
Post-translational Modifications of Fumarase Regulate its Enzyme Activity and Function in Respiration and the DNA Damage Response.
Neoplasms
Post-translational regulation of metabolism in fumarate hydratase deficient cancer cells.
Neoplasms
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Neoplasms
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Neoplasms
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Neoplasms
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Neoplasms
Re: Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
Neoplasms
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Neoplasms
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Neoplasms
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Neoplasms
Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling.
Neoplasms
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Neoplasms
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
Neoplasms
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Neoplasms
Seeing the smoking gun: a sensitive and specific method to visualize loss of the tumour suppressor, fumarate hydratase, in human tissues.
Neoplasms
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer.
Neoplasms
Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2.
Neoplasms
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
Neoplasms
Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy.
Neoplasms
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Neoplasms
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
Neoplasms
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Neoplasms
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
Neoplasms
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.
Neoplasms
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
Neoplasms
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
Neoplasms
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
Neoplasms
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Neoplasms
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
Neoplasms
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
Neoplasms
Two Subtypes of Atypical Leiomyoma: Clinical, Histologic, and Molecular Analysis.
Neoplasms
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Neoplasms
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Neoplasms
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Neoplasms
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Neoplasms
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Neoplasms
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
Neoplasms
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
Neoplasms
[Molecular biology of renal cancer: bases for genetic directed therapy in advanced disease].
Neoplastic Syndromes, Hereditary
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Neoplastic Syndromes, Hereditary
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Neoplastic Syndromes, Hereditary
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Nervous System Neoplasms
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Neurodegenerative Diseases
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Neurofibromatoses
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Neurofibromatoses
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Neurofibromatoses
Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.
Neurofibromatosis 1
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Neurofibromatosis 1
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Neutropenia
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.
Obesity
Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis and Insulin Resistance.
Obesity
Hepatic miR-144 drives fumarase activity preventing NRF2 activation during obesity.
Olivopontocerebellar Atrophies
Abnormalities of mitochondrial enzymes in hereditary ataxias.
oxoglutarate dehydrogenase (succinyl-transferring) deficiency
The expanding clinical spectrum of mitochondrial diseases.
Pancreatic Neoplasms
Cancer-associated fibroblasts enhance pancreatic cancer cell invasion by remodeling the metabolic conversion mechanism.
Paraganglioma
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Paraganglioma
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Paraganglioma
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Paraganglioma
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Paraplegia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
peptidyl-glutamate 4-carboxylase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
peptidyl-glutamate 4-carboxylase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Perivascular Epithelioid Cell Neoplasms
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Pheochromocytoma
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Pheochromocytoma
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Pheochromocytoma
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Pheochromocytoma
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Pheochromocytoma
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Polycythemia
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.
Polyhydramnios
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Polyneuropathies
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Propionic Acidemia
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Prostatic Neoplasms
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Prostatic Neoplasms
Nuclear ARRB1 induces pseudohypoxia and cellular metabolism reprogramming in prostate cancer.
Protein Deficiency
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
Retinoblastoma
MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study.
Seizures
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Seizures
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Seizures
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.
Smooth Muscle Tumor
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Smooth Muscle Tumor
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Smooth Muscle Tumor
Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei.
Smooth Muscle Tumor
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Smooth Muscle Tumor
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Smooth Muscle Tumor
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Smooth Muscle Tumor
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Smooth Muscle Tumor
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Smooth Muscle Tumor
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Spasms, Infantile
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Spinocerebellar Ataxias
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Stomach Neoplasms
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
Thrombosis
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Tuberculosis
Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.
Tuberculosis
Elevation of Fumarate Levels Compromise Redox Control and Viability in Mycobacterium tuberculosis.
Tuberculosis
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
Tuberculosis
Selective small molecule inhibitor of the Mycobacterium tuberculosis fumarate hydratase reveals an allosteric regulatory site.
Tuberculosis
Targeting of fumarate hydratase from Mycobacterium tuberculosis using allosteric inhibitors with a dimeric-binding mode.
Typhus, Epidemic Louse-Borne
Structure of fumarate hydratase from Rickettsia prowazekii, the agent of typhus and suspected relative of the mitochondria.