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 …

The von Hippel–Lindau tumor suppressor gene

K Kondo, WG Kaelin Jr - Experimental cell research, 2001 - Elsevier
Germline mutations of the von Hippel–Lindau tumor suppressor gene (VHL) in humans
causes a hereditary cancer syndrome characterized by the development of retinal and …

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 …

The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma

WG Kaelin Jr - Clinical Cancer Research, 2007 - AACR
Germ line VHL tumor suppressor gene loss-of-function mutations cause von Hippel-Lindau
disease, which is associated with an increased risk of central nervous system …

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF

MA Hoffman, M Ohh, H Yang, JM Klco… - Human molecular …, 2001 - academic.oup.com
Abstract von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by germ
line mutation of the von Hippel-Lindau tumor suppressor gene (VHL). Tumors observed in …

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 …

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 …

[HTML][HTML] Systemic VHL gene functions and the VHL disease

HL Bader, T Hsu - FEBS letters, 2012 - Elsevier
The von Hippel-Lindau tumor suppressor gene (VHL) is best known as an E3 ubiquitin
ligase that negatively regulates the hypoxia inducible factor (HIF). VHL mutations are the …

[HTML][HTML] Von Hippel–Lindau disease: Insights into oxygen sensing, protein degradation, and cancer

WG Kaelin - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
Germline loss-of-function mutations of the VHL tumor suppressor gene cause von Hippel–
Lindau disease, which is associated with an increased risk of hemangioblastomas, clear cell …

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 …