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https://www.readbyqxmd.com/read/17846002/-genetics-and-angiogenesis-the-example-of-von-hippel-lindau-disease
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St├ęphane Richard, Charline Ladroue, Sophie Gad, Sophie Giraud, Betty Gardie et al.
Von Hippel-Lindau (VHL) disease is the main cause of inherited kidney cancer and the model of tumoral angiogenesis. This rare syndrome is caused by germline mutations of the VHL tumor-suppressor gene that predispose to the development of a panel of highly vascularized tumors. Main manifestations include CNS and retinal haemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas (RCC), phaeochromocytomas and pancreatic neuroendocrine tumors. The VHL gene plays a major role in regulation of the oxygen-sensing pathway by targeting the hypoxia-inducible factor HIF for degradation in proteasome...
July 2007: Bulletin du Cancer
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