New tumor suppressor gene captured

J Travis - Science, 1993 - science.org
Step by step, base pair by base pair, researchers have finally closed in on the gene that
causes von Hippel-Lindau (VHL) disease, a rare but deadly condition that predisposes …

[引用][C] Germline mutations detected in the von Hippel‐Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing

C Li, G Weber, P Ekman, J Lagercrantz… - Human …, 1998 - Wiley Online Library
INTRODUCTION von Hippel-Lindau disease (VHL) is an autosoma1 dominantly inherited
cancer syndrome with an incidence of 1 in 36,000 (Melmon and Rosen, 1964; Maher et al …

Comparative sequence analysis of the VHL tumor suppressor gene

ER Woodward, A Buchberger, SC Clifford, LD Hurst… - Genomics, 2000 - Elsevier
Comparative genome analysis may provide novel insights into gene evolution and function.
To investigate the von Hippel–Lindau (VHL) disease tumor suppressor gene, we sequenced …

In vitro and In vivo Models Analyzing von Hippel-Lindau Disease-Specific Mutations

WK Rathmell, MM Hickey, NA Bezman, CA Chmielecki… - Cancer research, 2004 - AACR
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene cause tissue-specific
tumors, with a striking genotype-phenotype correlation. Loss of VHL expression predisposes …

The von Hippel-Lindau tumor suppressor gene: a rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis

HJH Decker, EJ Weidt, J Brieger - Cancer genetics and cytogenetics, 1997 - Elsevier
The von Hippel-Lindau (VHL) disease is an inherited tumor susceptibility syndrome
featuring a high variety of benign and malignant tumors. The gene has been localized and …

[引用][C] A novel donor splice site mutation associated with two mRNAs in von Hippel—Lindau disease

T Kishida, M Yao, F Chen, ML Orcutt… - Human molecular …, 1994 - academic.oup.com
Von Hippel-Lindau disease (VHL) is an autosomal, dominantly inherited disorder
characterized by the development of retinal angiomas, central nervous system …

[HTML][HTML] Von Hippel-Lindau: implications in development and disease—response

KR Cargill, S Sims-Lucas - Annals of Translational Medicine, 2020 - ncbi.nlm.nih.gov
The commentary provides an excellent overview of the VHL/HIF axis and its role in cellular
oxygen sensing. The editorial authors correctly imply that our study revealed a novel role for …

Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: implications for the potential …

J Gao, JG Naglich, J Laidlaw, JM Whaley, BR Seizinger… - Cancer research, 1995 - AACR
Abstract The human von Hippel-Lindau disease (VHL) gene has recently been identified
and, based on the nucleotide sequence of a partial cDNA clone, has been predicted to …

[引用][C] HANDOUT VHL ALLIANCE FDA PATIENT LISTENING SESSION

VHL ALLIANCE - 2020

Improved detection of germline mutations in the von Hippel‐Lindau disease tumor suppressor gene

C Stolle, G Glenn, B Zbar, JS Humphrey… - Human …, 1998 - Wiley Online Library
Abstract 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 …