Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation
about
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypePinpointing phosphotyrosine-dependent interactions downstream of the collagen receptor DDR1Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairMEKK3 initiates transforming growth factor beta 2-dependent epithelial-to-mesenchymal transition during endocardial cushion morphogenesisA mouse model for Costello syndrome reveals an Ang II-mediated hypertensive conditionRASopathies: unraveling mechanisms with animal modelsSmall G proteins in the cardiovascular system: physiological and pathological aspectsGenetics of valvular heart diseaseShp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defectsOncogenic Kras initiates leukemia in hematopoietic stem cellsAtopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skinStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsRAS diseases in childrenGermline gain-of-function mutations in SOS1 cause Noonan syndromePTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effectsMitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.Germline KRAS mutations cause Noonan syndromeStops along the RAS pathway in human genetic diseaseMouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest developmentThe neurofibromin GAP-related domain rescues endothelial but not neural crest development in Nf1 miceKnock-in of an internal tandem duplication mutation into murine FLT3 confers myeloproliferative disease in a mouse modelProtein tyrosine phosphatases in the JAK/STAT pathwayRas oncogenes: split personalitiesAberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signalingControl of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndromeIdentification of PTPsigma as an autophagic phosphatase.The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical dataTyr66 acts as a conformational switch in the closed-to-open transition of the SHP-2 N-SH2-domain phosphotyrosine-peptide binding cleft.Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)Novel SHP-1 inhibitors tyrosine phosphatase inhibitor-1 and analogs with preclinical anti-tumor activities as tolerated oral agents.SHP-2 is required for the maintenance of cardiac progenitors.Copy-neutral loss of heterozygosity is prevalent and a late event in the pathogenesis of FLT3/ITD AMLTargeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction.Inhibition of the Gab2/PI3K/mTOR signaling ameliorates myeloid malignancy caused by Ptpn11 (Shp2) gain-of-function mutations.Tyrosine phosphatases Shp1 and Shp2 have unique and opposing roles in oligodendrocyte development.PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.The molecular genetics of congenital heart disease: a review of recent developments.
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P2860
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation
description
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im August 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/08/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/08/01)
@nl
наукова стаття, опублікована в серпні 2004
@uk
مقالة علمية (نشرت في أغسطس 2004)
@ar
name
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@ast
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@en
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@nl
type
label
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@ast
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@en
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@nl
prefLabel
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@ast
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@en
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@nl
P2093
P2860
P356
P1433
P1476
Mouse model of Noonan syndrome ...... ent effects of Ptpn11 mutation
@en
P2093
Benjamin G Neel
D Gary Gilliland
Fraz A Ismat
Jeffery L Kutok
Jonathan A Epstein
Lily I Pao
M Golam Mohi
Roderick T Bronson
Toshiyuki Araki
Wentian Yang
P2860
P2888
P304
P356
10.1038/NM1084
P407
P50
P577
2004-07-25T00:00:00Z