Article
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
BMC cancer - 14 Jul 2009
Bangiyeva Valentina, Rosenbloom Ava, Alexander Ashlynn E, Isanova Bella, Popko Timothy, Schoenfeld Alan R
Abstract excerpt
BACKGROUND: In von Hippel-Lindau (VHL) disease, germline mutations in the VHL tumor suppressor gene cause clear cell renal carcinomas, hemangioblastomas, and pheochromocytomas. The VHL gene product is part of an ubiquitin E3 ligase complex and hypoxia-inducible factor alpha (HIF-alpha) is a key substrate, although additional VHL functions have been described. A genotype-phenotype relationship exists in VHL...
Topics
- Carcinoma
- Cell Line
- Cycloheximide
- Gene Expression Regulation
- Genotype
- Humans
- Hypoxia-Inducible Factor 1, alpha Subunit
- Kidney Neoplasms
- Models, Biological
- Mutation
- Phenotype