Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
about
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.Bioinformatic Analysis of GJB2 Gene Missense Mutations.Meet me halfway: when genomics meets structural bioinformatics.Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)SDM--a server for predicting effects of mutations on protein stability and malfunction.Comprehensive, atomic-level characterization of structurally characterized protein-protein interactions: the PICCOLO databaseA novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau diseaseThree novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinomaThe phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.Structural interactomics: informatics approaches to aid the interpretation of genetic variation and the development of novel therapeutics.Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Genomes, structural biology and drug discovery: combating the impacts of mutations in genetic disease and antibiotic resistance.Simulation of the mutation F76del on the von Hippel-Lindau tumor suppressor protein: mechanism of the disease and implications for drug development.An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.In silico investigation of PHD-3 specific HIF1-α proline 567 hydroxylation: a new player in the VHL/HIF-1α interaction pathway?Clinical presentation and mutation analysis of VHL disease in a large Chinese family.Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.Mutational status of VHL gene and its clinical importance in renal clear cell carcinoma.A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts.Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.
P2860
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P2860
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@en
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@nl
type
label
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@en
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@nl
prefLabel
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@en
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@nl
P2093
P356
P1433
P1476
Structural bioinformatics muta ...... r mechanisms of tumorigenesis.
@en
P2093
G Richard J Bickerton
Julia R Forman
Tim G Eisen
P356
10.1002/PROT.22419
P407
P577
2009-10-01T00:00:00Z