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The von Hippel-Lindau gene : Turning discovery into therapy

✍ Scribed by Peter E. Clark; Michael S. Cookson

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
220 KB
Volume
113
Category
Article
ISSN
0008-543X

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Identification of two sporadically deriv
Identification of two sporadically derived mutations in the Von Hippel-Lindau gene
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Von Hippel-Lindau disease is an autosomal dominantly inherited disorder characterised by the development of haemangioblastomas, renal carcinomas, retinal angiomata, pancreatic tumours, and phaeochromocytomas . The tumour suppressor gene responsible for VHL has been mapped to 3p25 and a partial sequ

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Subcellular localization of the von Hippel-Lindau disease gene product is cell cycle-dependent
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The von Hippel-Lindau gene product (pVHL) interacts with and inhibits the cellular transcription factor elongin. However, the subcellular localization of pVHL has remained uncertain. Naturally occurring pVHL mutants which fail to interact with elongin have been described in patients with VHL disease

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Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
✍ Catherine Stolle; Gladys Glenn; Berton Zbar; Jeffrey S. Humphrey; Peter Choyke; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 201 KB πŸ‘ 2 views

Communicated by Victor A. McKusick von Hippel-Lindau disease (VHL) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. The VHL tumor suppressor gene was identified in 1993. Initial

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The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma
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## Abstract Deletions of the short arm of chromosome 3 are often observed in a specific subset of aggressive neuroblastomas (NBs) with loss of distal 11q and without __MYCN__ amplification. The critical deleted region encompasses the locus of the von Hippel‐Lindau gene (__VHL__, 3p25). Constitution