Article
Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor.
European journal of human genetics : EJHG - 1 Jan 2008
Lolkema Martijn P, Mans Dorus A, Ulfman Laurien H, Volpi Stefano, Voest Emile E, Giles Rachel H
Abstract excerpt
Patients with von Hippel-Lindau (VHL) disease often develop VHL-/- kidney cysts, which possibly progress into clear-cell renal carcinomas (ccRCCs). Recent data link the VHL gene product to formation of the primary cilium, an organelle that extends apically into the renal lumen. Exactly how VHL induces ciliogenesis or function is unknown. Here, we demonstrate that ciliary assembly and mechanotransduction is...
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