Software and database for the analysis of mutations in the VHL gene.
about
Tracheal development and the von Hippel-Lindau tumor suppressor homolog in DrosophilaState of the science: an update on renal cell carcinomaDiversity of degradation signals in the ubiquitin-proteasome systemComputational and experimental characterization of dVHL establish a Drosophila model of VHL syndromeMutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCDifferences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.The VHL-dependent regulation of microRNAs in renal cancer.DNA copy number losses in human neoplasms.Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotypeVHL, the story of a tumour suppressor gene.Ocular von Hippel-Lindau disease: clinical update and emerging treatments.Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.The UMD-p53 database: new mutations and analysis tools.The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.Mosaicism in von Hippel-Lindau disease: an event important to recognize.DNA copy number changes in Schistosoma-associated and non-Schistosoma-associated bladder cancer.E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.Perspectives in Pediatric Pathology, Chapter 12. Congenital Epididymal Anomalies.Genetic predisposition to kidney cancer.UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.Combination of multiple alignment analysis and surface mapping paves a way for a detailed pathway reconstruction--the case of VHL (von Hippel-Lindau) protein and angiogenesis regulatory pathway.An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up.Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.Role of exon 2-encoded beta -domain of the von Hippel-Lindau tumor suppressor protein.Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
P2860
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P2860
Software and database for the analysis of mutations in the VHL gene.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Software and database for the analysis of mutations in the VHL gene.
@en
Software and database for the analysis of mutations in the VHL gene.
@nl
type
label
Software and database for the analysis of mutations in the VHL gene.
@en
Software and database for the analysis of mutations in the VHL gene.
@nl
prefLabel
Software and database for the analysis of mutations in the VHL gene.
@en
Software and database for the analysis of mutations in the VHL gene.
@nl
P2093
P2860
P356
P1476
Software and database for the analysis of mutations in the VHL gene.
@en
P2093
P2860
P304
P356
10.1093/NAR/26.1.256
P407
P50
P577
1998-01-01T00:00:00Z