Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation
about
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationStructural and functional impact of cancer-related missense somatic mutations.Impact of genetic variation on three dimensional structure and function of proteins.Activating K-Ras mutations outwith 'hotspot' codons in sporadic colorectal tumours - implications for personalised cancer medicine.Noonan syndrome: clinical aspects and molecular pathogenesis.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsNoonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Differences in the regulation of K-Ras and H-Ras isoforms by monoubiquitination.HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors.Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndromeGermline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.ZIKV infection effects changes in gene splicing, isoform composition and lncRNA expression in human neural progenitor cells.Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.Characterization of a novel KRAS mutation identified in Noonan syndromeNew insights into RAS biology reinvigorate interest in mathematical modeling of RAS signaling.A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.Respiratory system involvement in Costello syndrome.Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model
P2860
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P2860
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@ast
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@en
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@nl
type
label
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@ast
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@en
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@nl
prefLabel
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@ast
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@en
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutation analysis in Costello ...... the HRAS p.Lys117Arg mutation
@en
P2093
Annick Vogels
Ellen Denayer
Eric Legius
Jean-Pierre Frijns
Kevin Shannon
Magdalena Chmara
Suzanne Schubbert
Thomy J de Ravel
Vladimir Rybin
P2860
P356
10.1002/HUMU.20616
P577
2008-02-01T00:00:00Z