The history of von Hippel-Lindau disease.

D Molino, J Sepe, P Anastasio… - Journal of nephrology, 2006 - europepmc.org
von Hippel-Lindau (vHL) disease is a heritable multisystem cancer syndrome that is
associated with a germ line mutation of the vHL tumor suppressor gene on the short arm of …

Von Hippel-Lindau (VHL) Inactivation in Sporadic Clear Cell Renal Cancer: Associations with Germline VHL Polymorphisms and Etiologic Risk Factors

LE Moore, ML Nickerson, P Brennan, JR Toro… - PLoS …, 2011 - journals.plos.org
Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify
disease into molecularly defined subtypes to examine associations with etiologic risk factors …

The role of von Hippel-Lindau tumor suppressor protein and hypoxia in renal clear cell carcinoma

RI Sufan, MAS Jewett, M Ohh - American Journal of …, 2004 - journals.physiology.org
The majority of kidney cancers are caused by the mutation of the von Hippel-Lindau (VHL)
tumor suppressor gene. VHL protein (pVHL) is part of an E3 ubiquitin ligase complex called …

The von Hippel-Lindau gene, kidney cancer, and oxygen sensing

WG Kaelin Jr - Journal of the American Society of Nephrology, 2003 - journals.lww.com
Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL)
disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps …

VHL Deficiency Drives Enhancer Activation of Oncogenes in Clear Cell Renal Cell Carcinoma

X Yao, J Tan, KJ Lim, J Koh, WF Ooi, Z Li, D Huang… - Cancer discovery, 2017 - AACR
Protein-coding mutations in clear cell renal cell carcinoma (ccRCC) have been extensively
characterized, frequently involving inactivation of the von Hippel–Lindau (VHL) tumor …

Germ‐line mutation analysis in patients with von Hippel‐Lindau disease in Japan: an extended study of 77 families

M Yoshida, S Ashida, K Kondo… - Japanese journal of …, 2000 - Wiley Online Library
We have previously reported on the analysis of germ‐line mutations in Japanese von Hippel‐
Lindau disease (VHL) patients and found mutations in 26 families. We have now extended …

Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and …

C Razafinjatovo, S Bihr, A Mischo, U Vogl… - BMC cancer, 2016 - Springer
Abstract Background The VHL protein (pVHL) is a multiadaptor protein that interacts with
more than 30 different binding partners involved in many oncogenic processes. About 70 …

Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation

H Hasumi, M Yao - Cancer Science, 2018 - Wiley Online Library
Although hereditary kidney cancer syndrome accounts for approximately five percent of all
kidney cancers, the mechanistic insight into tumor development in these rare conditions has …

Biallelic inactivation of the von Hippel-Lindau tumor suppressor gene in sporadic renal cell carcinoma

K Hamano, M Esumi, H Igarashi, K Chino… - The Journal of …, 2002 - auajournals.org
Purpose: Somatic mutations of the von Hippel-Lindau tumor suppressor gene VHL and loss
of heterozygosity of 3p25 to 26 have been well analyzed in renal cell carcinoma but it is not …

Targeting von Hippel-Lindau pathway in renal cell carcinoma

PH Patel, RSV Chadalavada, RSK Chaganti… - Clinical Cancer …, 2006 - AACR
Inheritance of a defective copy of the von Hippel-Lindau (VHL) gene leads to the most
common cause of inherited renal cell carcinoma (RCC). In addition, most patients with …