Condition: Fumarase deficiency


rs1031919395 in FH gene and Fumarase deficiency PMID 21929734 2011 Fumarase: a paradigm of dual targeting and dual localized functions.

PMID 27037871 2016 Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism.

PMID 21398687 2011 Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

PMID 11865300 2002 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

PMID 25913776 2016 Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene.

PMID 28300276 2017 Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers.

PMID 9635293 1998 Molecular analysis and prenatal diagnosis of human fumarase deficiency.

PMID 25923021 2015 Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.

PMID 20549362 2010 Fumaric aciduria: an overview and the first Brazilian case report.

PMID 15937070 2006 Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

PMID 16288654 2005 The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

PMID 21404119 2011 Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.

PMID 25477250 2015 Hereditary leiomyomatosis associated with renal cell carcinoma.

PMID 18313410 2008 Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

PMID 22127509 2012 Familial renal cancer as an indicator of hereditary leiomyomatosis and renal cell cancer syndrome.

PMID 20618355 2011 Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

PMID 17960613 2008 "A cancer-predisposing ""hot spot"" mutation of the fumarase gene creates a dominant negative protein."

PMID 21445611 2011 Structural basis of fumarate hydratase deficiency.

PMID 12772087 2003 Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16597677 2006 Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

PMID 24441663 2014 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.

PMID 12761039 2003 Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

PMID 16575891 2006 Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

PMID 22069215 2012 Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.

PMID 22595425 2012 Mild fumarase deficiency and a trial of low protein diet.

PMID 28747166 2017 Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

PMID 15221078 2004 A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency.

PMID 16876016 2006 Fumarate hydratase deficiency in monozygotic twins.

PMID 10896297 2000 Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.

PMID 17182618 2007 Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.

PMID 16151915 2005 Fumarase deficiency presenting with periventricular cysts.

PMID 15987702 2005 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

PMID 23612258 2013 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.

PMID 9300800 1997 Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

PMID 24182348 2013 Fumarase deficiency in dichorionic diamniotic twins.

PMID 16510303 2006 Molecular and biochemical investigations in fumarase deficiency.

PMID 30050099 2019 Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

PMID 26457356 2015 Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.

PMID 17392716 2007 Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.

PMID 25004247 2014 Germline FH mutations presenting with pheochromocytoma.

PMID 14632190 2003 Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.

PMID 15761418 2005 Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

PMID 2314594 1990 Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.

PMID 26574848 2016 Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

PMID 16206287 2006 Modeling tumor predisposing FH mutations in yeast: effects on fumarase activity, growth phenotype and gene expression profile.

PMID 19470762 2009 Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.

PMID 25750977 2015 An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome.

PMID 22764886 2013 Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.

PMID 22565324 2012 Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.

PMID 22243733 2012 JAAD Grand Rounds quiz. A 46-year-old man with agminated papules on the buttock. Reed syndrome.

PMID 25292446 2014 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.

PMID 16237213 2005 Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

PMID 19967458 2010 Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.