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- Title
Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin.
- Authors
Hudon, V; Sabourin, S; Dydensborg, A B; Kottis, V; Ghazi, A; Paquet, M; Crosby, K; Pomerleau, V; Uetani, N; Pause, A
- Abstract
Renal cell carcinoma (RCC) comprises five major molecular and histological subtypes. The Birt-Hogg-Dubé (BHD) syndrome is a hereditary human cancer syndrome that predisposes affected individuals to develop renal carcinoma of nearly all subtypes, in addition to benign fibrofolliculomas, and pulmonary and renal cysts. BHD is caused by loss-of-function mutations in the folliculin (FLCN) protein. The molecular function of FLCN is still largely unknown; opposite and conflicting evidence of the role of FLCN in mammalian target of rapamycin signalling/phosphorylated ribosomal protein S6 (p-S6) activation had recently been reported.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 3, p182
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2009.072009