University of Birmingham Mutation analysis of HIF-prolylhydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma

Abstract

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… (More)

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