Germline gain-of-function mutations in SOS1 cause Noonan syndrome
about
Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signalingGain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingStructural analysis of autoinhibition in the Ras-specific exchange factor RasGRP1The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationA mouse model for Costello syndrome reveals an Ang II-mediated hypertensive conditionMutation in NRAS in familial Noonan syndrome--case report and review of the literatureRegulation of small GTPases by GEFs, GAPs, and GDIsRho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and diseaseOf mice and men: molecular genetics of congenital heart diseaseNoonan syndromeSmall G proteins in the cardiovascular system: physiological and pathological aspectsThe role of ultrasound in the diagnosis of fetal genetic syndromesThe RASopathiesShp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defectsRational design of small molecule inhibitors targeting the Ras GEF, SOS1.Role of the histone domain in the autoinhibition and activation of the Ras activator Son of SevenlessStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsRas superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?RAS diseases in childrenMitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.Therapy-related myeloid neoplasms: pathobiology and clinical characteristicsExpansion of the RASopathiesMouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest developmentInherited Disease Genetics Improves the Identification of Cancer-Associated GenesDifferences in flexibility underlie functional differences in the Ras activators son of sevenless and Ras guanine nucleotide releasing factor 1Ras oncogenes: split personalitiesSUMOylation of Grb2 enhances the ERK activity by increasing its binding with Sos1.Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Ras and Rap signaling in synaptic plasticity and mental disorders.One-way membrane trafficking of SOS in receptor-triggered Ras activation.Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumRare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Allosteric gating of Son of sevenless activity by the histone domainGenomic regions associated with kyphosis in swineDermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.Noonan syndrome: clinical aspects and molecular pathogenesis.
P2860
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P2860
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@ast
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@en
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@nl
type
label
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@ast
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@en
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@nl
prefLabel
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@ast
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@en
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@nl
P2093
P2860
P3181
P356
P1433
P1476
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
@en
P2093
Alex M Tamburino
Amy E Roberts
Benjamin G Neel
Kate T Montgomery
Kenneth D Swanson
Raju S Kucherlapati
Taryn A Schiripo
Toshiyuki Araki
Victoria A Joshi
P2860
P2888
P3181
P356
10.1038/NG1926
P407
P577
2007-01-01T00:00:00Z
P5875
P6179
1023336025