The von Hippel‐Lindau gene: Turning discovery into therapy

PE Clark, MS Cookson - Cancer, 2008 - Wiley Online Library
Germ line mutations of the VHL gene have been identified as the root cause of this disease.
6 Mutations and/or aberrations of the same gene have been identified in the majority of …

von Hippel-Lindau disease

ER Maher - Current molecular medicine, 2004 - ingentaconnect.com
Germline mutations in the VHL tumour suppressor gene may cause a variety of phenotypes
including von Hippel-Lindau (VHL) disease, familial phaeochromocytoma and inherited …

VHL, the story of a tumour suppressor gene

L Gossage, T Eisen, ER Maher - Nature Reviews Cancer, 2015 - nature.com
Abstract Since the Von Hippel–Lindau (VHL) disease tumour suppressor gene VHL was
identified in 1993 as the genetic basis for a rare disorder, it has proved to be of wide medical …

von Hippel-Lindau disease: recent advances and therapeutic perspectives

S Richard - Expert Review of Anticancer Therapy, 2003 - Taylor & Francis
von Hippel-Lindau disease is a hereditary cancer syndrome predisposing carriers to the
development of a panel of highly vascularized tumors such as central nervous system and …

The von Hippel-Lindau tumor suppressor gene and kidney cancer

WG Kaelin Jr - Clinical cancer research, 2004 - AACR
Abstract The von Hippel-Lindau tumor suppressor gene (VHL), which resides on
chromosome 3p25, is mutated or silenced in> 50% of sporadic clear cell renal cell …

Treatment of kidney cancer: insights provided by the VHL tumor‐suppressor protein

WG Kaelin Jr - Cancer, 2009 - Wiley Online Library
Germline inactivation of the VHL tumor suppressor gene is associated with an increased risk
of clear cell carcinoma of the kidney in the context of von Hippel‐Lindau (VHL) disease. The …

Role of VHL gene mutation in human renal cell carcinoma

W Arjumand, S Sultana - Tumor Biology, 2012 - Springer
Abstract The Von Hippel–Lindau (VHL) is an inherited neoplasia syndrome caused by the
inactivation of VHL tumor suppressor gene, and somatic mutation of this gene has been …

Alterations in VHL as potential biomarkers in renal-cell carcinoma

L Gossage, T Eisen - Nature reviews Clinical oncology, 2010 - nature.com
Germ line mutations in the VHL tumor-suppressor gene cause von Hippel–Lindau (VHL)
disease, a hereditary neoplastic disease associated with clear-cell renal-cell carcinomas …

[HTML][HTML] HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

SJ Mandriota, KJ Turner, DR Davies, PG Murray… - Cancer cell, 2002 - cell.com
Mutations in the von Hippel-Lindau (VHL) gene are associated with hereditary and sporadic
clear cell renal carcinoma. VHL acts in a ubiquitin ligase complex regulating hypoxia …

Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations

L Li, L Zhang, X Zhang, Q Yan… - … and cellular biology, 2007 - Am Soc Microbiol
Clear cell carcinoma of the kidney is a major cause of mortality in patients with von Hippel-
Lindau (VHL) disease, which is caused by germ line mutations that inactivate the VHL tumor …