ArticleNucleic acids research1998
Software and database for the analysis of mutations in the VHL gene.
Article in Nucleic acids research, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 144 citations in OpenAlex.
- Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up.Familial cancer · 2012Trial
- A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.Journal of medical genetics · 2024Article
- Neurosurgical Implications of Targeting Hypoxia-Inducible Factor 2α in Hemangioblastomas with Belzutifan.World neurosurgery · 2024Review
- Intelligent Protein Design and Molecular Characterization Techniques: A Comprehensive Review.Molecules (Basel, Switzerland) · 2023Review
- Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.Cell death & disease · 2022Article
- A germline 1;3 translocation disrupting theJournal of medical genetics · 2022Article
- Inherited syndromes involving pancreatic neuroendocrine tumors.Journal of gastrointestinal oncology · 2020Review
- The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.Frontiers in endocrinology · 2020Review
- Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome.Oncogene · 2019Article
- Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.Familial cancer · 2018Article
- Genetic predisposition to kidney cancer.Seminars in oncology · 2016Review
- E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.BMC cancer · 2015Article
- VHL, the story of a tumour suppressor gene.Nature reviews. Cancer · 2015Review
- An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Human molecular genetics · 2014Article
- Computational and experimental characterization of dVHL establish a Drosophila model of VHL syndrome.PloS one · 2014Article
- Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.PloS one · 2013Article
- State of the science: an update on renal cell carcinoma.Molecular cancer research : MCR · 2012Review
- The VHL-dependent regulation of microRNAs in renal cancer.BMC medicine · 2010Article
- Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.Investigative ophthalmology & visual science · 2010Article
- Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.BMC cancer · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
VHL is a tumor suppressor gene localized on chromosome 3p25-26. Mutations of the VHL gene were described at first in the heritable von Hippel-Lindau disease and in the sporadic Renal Cell Carcinoma (RCC). More recently, VHL has also been shown to harbor mutations in mesothelioma and small cell lung carcinoma. To date more than 500 mutations have been identified. These mutations are mainly private with only one hot spot at codon 167 associated with pheochromocytoma. The germline mutations are essentially missense while somatic mutations include deletions, insertions and nonsense. To standardize the collection of these informations, facilitate the mutational analysis of the VHL gene and promote the genotype-phenotype analysis, a software package along with a computerized database have been created. The current database and the analysis software are accessible via the internet and world wide web interface at the URL:http://www.umd.necker.fr
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.