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References in periodicals archive ?
[6] Human Genes: IDH1, isocitrate dehydrogenase 1; IDH2, isocitrate dehydrogenase 2; L2HGDH, L-2-hydroxyglutarate dehydrogenase; SDH, succinate dehydrogenase; ZEB1, zinc finger E-box binding homeobox 1; FH, fumarate hydratase; SDHA, succinate dehydrogenase complex flavoprotein subunit A; SDHB, succinate dehydrogenase complex iron sulfur subunit B; SDHC, succinate dehydrogenase complex subunit C; SDHD, succinate dehydrogenase complex subunit D; SDHAF1, succinate dehydrogenase complex assembly factor 1; SDHAF2, succinate dehydrogenase complex assembly factor 2.
Immunostain for fumarate hydratase (200x original magnification) shows absent staining in the cancer cells (B).
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.
If both parents pass on a mutated copy of the fumarate hydratase gene, the results are disastrous.
The 2 immunohistochemical biomarkers that show a high correlation with the diagnosis of HLRCC-associated RCC are fumarate hydratase (FH) and S-(2-succino)-cysteine (2SC).
Hereditary leiomyomatosis-associated RCC is an autosomal dominant disorder that results from mutations in the fumarate hydratase gene.
(46) Hereditary leiomyomatosis and RCC is associated with germline mutations in the Krebs cycle gene fumarate hydratase (FH), which predisposes patients to the development of multiple characteristic tumors, including cutaneous and uterine leiomyomata and RCCs.
(42) HLRCC is characterized by germline mutations in the fumarate hydratase (FH) gene on chromosome 1q42, which encodes a Krebs cycle enzyme that catalyzes the conversion of malate to fumarate.