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 …

[HTML][HTML] von Hippel–Lindau disease: A clinical and scientific review

ER Maher, HPH Neumann, S Richard - European Journal of Human …, 2011 - nature.com
The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused
by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations …

[图书][B] Pathology and genetics of tumours of endocrine organs

RA DeLellis - 2004 - books.google.com
This volume covers tumors of the pituary, the thyroid and parathyroid, the adrenal gland, the
endocrine pancreas, and inherited tumor syndromes. Each entity is extensively discussed …

von Hippel-Lindau disease

RR Lonser, GM Glenn, MC Walther, EY Chew… - The Lancet, 2003 - thelancet.com
Summary von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is
associated with a germline mutation of the VHL tumour suppressor gene on the short arm of …

Role of VHL Gene Mutation in Human Cancer

WY Kim, WG Kaelin - Journal of clinical oncology, 2004 - ascopubs.org
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the
von Hippel-Lindau hereditary cancer syndrome, and somatic mutations of this gene have …

Molecular basis of the VHL hereditary cancer syndrome

WG Kaelin Jr - Nature Reviews Cancer, 2002 - nature.com
Abstract The von Hippel–Lindau hereditary cancer syndrome was first described about 100
years ago. The unusual clinical features of this disorder predicted a role for the von Hippel …

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

CE Stebbins, WG Kaelin Jr, NP Pavletich - Science, 1999 - science.org
Mutation of the VHL tumor suppressor is associated with the inherited von Hippel–Lindau
(VHL) cancer syndrome and the majority of kidney cancers. VHL binds the ElonginC …

Tumour suppression by the human von Hippel-Lindau gene product

O Iliopoulos, A Kibel, S Gray, WG Kaelin Jr - Nature medicine, 1995 - nature.com
A partial cDNA sequence for the gene linked to the von Hippel–Lindau (VHL) syndrome was
reported in 1993. Mutation or loss of both VHL alleles has been documented in sporadic …

Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma

K Pacak, WM Linehan, G Eisenhofer… - Annals of internal …, 2001 - acpjournals.org
Pheochromocytoma is a rare but important tumor of chromaffin cells that is frequently
considered in the evaluation of hypertension, arrhythmias, or panic disorder and in the …

Cancer genetics

BAJ Ponder - Nature, 2001 - nature.com
Cancer genetics has for many years focused on mutational events that have their primary
effect within the cancer cell. Recently that focus has widened, with evidence of the …