Article
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
Endocrine-related cancer - 1 Feb 2011
Astuti Dewi, Ricketts Christopher J, Chowdhury Rasheduzzaman, McDonough Michael A, Gentle Dean, Kirby Gail, Schlisio Susanne, Kenchappa Rajappa S, Carter Bruce D, Kaelin William G, Ratcliffe Peter J, Schofield Christopher J, Latif Farida, Maher Eamonn R
Abstract excerpt
Germline mutations in the von Hippel-Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC). Dysregulation of the hypoxia-inducible factor (HIF) transcription factors has been linked to VHL and SDHB-related RCC; both HIF dysregulation and disordered function of a prolyl hydroxylase domain isoform 3 (PHD3/EGLN3)-related...
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