title: Third International Meeting on von Hippel-Lindau disease.
abstract: Five years after the identification of the von Hippel-Lindau (VHL) gene, physicians, scientists and concerned VHL family members met to review the current state of knowledge on the diagnosis and treatment of VHL and to summarize the latest information on the biochemistry of the VHL protein (pVHL). The NIH and University of Pennsylvania groups reported the detection of germ-line mutations in 100% (93 of 93) of VHL families studied. Several studies determined the frequency of VHL germ-line mutations in individuals with a single manifestation of VHL without a family history of VHL. National groups to improve the diagnosis and treatment of individuals with VHL disease have been established in Great Britain, Denmark, France, Holland, Italy, Japan, Poland, and the United States. Evidence for the existence of genes that modify the expression of VHL was presented. The VHL protein appears to have several distinct functions: (a) down-regulation of hypoxia-inducible mRNAs; (b) proper assembly of the extracellular fibronectin matrix; (c) regulation of exit from the cell cycle; and (d) regulation of expression of carbonic anhydrases 9 and 12.
authors.affiliation: Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland 21702, USA.
authors.forename: B
authors.initials: B
authors.lastname: Zbar
authors.forename: W
authors.initials: W
authors.lastname: Kaelin
authors.forename: E
authors.initials: E
authors.lastname: Maher
authors.forename: S
authors.initials: S
authors.lastname: Richard
mesh_terms: D000818:Animals; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000601:surgery; D016543:Central Nervous System Neoplasms / Q000235:genetics / Q000601:surgery; D018292:Cystadenoma, Papillary / Q000235:genetics; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005091:Exons / Q000235:genetics; D005804:Genes, Lethal; D005820:Genetic Testing; D005838:Genotype; D018325:Hemangioblastoma / Q000235:genetics / Q000601:surgery; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D006912:Hydroxyquinolines / Q000494:pharmacology; D007680:Kidney Neoplasms / Q000235:genetics / Q000601:surgery; D008025:Ligases; D051379:Mice; D018345:Mice, Knockout; D008819:Mice, Nude; D009369:Neoplasms / Q000235:genetics; D009389:Neovascularization, Pathologic / Q000188:drug therapy; D009392:Nephrectomy / Q000379:methods; D010190:Pancreatic Neoplasms / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics / Q000502:physiology; D016634:Radiosurgery; D019572:Retinal Neoplasms / Q000235:genetics; D014327:Trophoblasts / Q000473:pathology; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D006912:Hydroxyquinolines; D011506:Proteins; D025521:Tumor Suppressor Proteins; C045282:roquinimex; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human