Article
Von Hippel-Lindau mutations disrupt vascular patterning and maturation via Notch.
JCI insight - 22 Feb 2018
Arreola Alexandra, Payne Laura Beth, Julian Morgan H, de Cubas Aguirre A, Daniels Anthony B, Taylor Sarah, Zhao Huaning, Darden Jordan, Bautch Victoria L, Rathmell W Kimryn, Chappell John C
Abstract excerpt
Von Hippel-Lindau (VHL) gene mutations induce neural tissue hemangioblastomas, as well as highly vascularized clear cell renal cell carcinomas (ccRCCs). Pathological vessel remodeling arises from misregulation of HIFs and VEGF, among other genes. Variation in disease penetrance has long been recognized in relation to genotype. We show Vhl mutations also disrupt Notch signaling, causing mutation-specific vascular...
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