Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisGain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeA Novel SHOC2 Variant in RasopathyFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingGlobal profiling of co- and post-translationally N-myristoylated proteomes in human cellsProtein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark, an integral membrane protein of the endoplasmic reticulumELM--the database of eukaryotic linear motifsMotif co-regulation and co-operativity are common mechanisms in transcriptional, post-transcriptional and post-translational regulationMutation in NRAS in familial Noonan syndrome--case report and review of the literatureRASopathies: unraveling mechanisms with animal modelsShort linear motifs - ex nihilo evolution of protein regulationOf mice and men: molecular genetics of congenital heart diseaseNoonan syndromeThe RASopathiesShoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cellsFunctional Integration of the Conserved Domains of Shoc2 ScaffoldA restricted spectrum of NRAS mutations causes Noonan syndromeContribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneityRAS diseases in childrenSignalling scaffolds and local organization of cellular behaviourExpansion of the RASopathiesLinking Genes to Cardiovascular Diseases: Gene Action and Gene-Environment Interactions.Dynamics of the discovery process of protein-protein interactions from low content studiesGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Lists2Networks: integrated analysis of gene/protein lists.Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Noonan syndrome: clinical aspects and molecular pathogenesis.Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.Next-generation sequencing identifies rare variants associated with Noonan syndromeHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Ras in cancer and developmental diseasesHUWE1 is a molecular link controlling RAF-1 activity supported by the Shoc2 scaffold.Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsGenes2FANs: connecting genes through functional association networks.Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsAutism traits in the RASopathies.
P2860
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P2860
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@ast
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en-gb
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@nl
type
label
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@ast
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en-gb
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@nl
prefLabel
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@ast
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en-gb
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutation of SHOC2 promotes abe ...... yndrome with loose anagen hair
@en
P2093
Alessio Cardinale
Angelo Selicorni
Anna Lipzen
Bruce D Gelb
Cecilia Anichini
Cesare Rossi
Daniela Merlo
Deborah Bartholdi
Giovanni B Ferrero
Joel Martin
P2860
P2888
P304
P3181
P356
10.1038/NG.425
P407
P50
P577
2009-09-01T00:00:00Z
P5875
P6179
1036833666