Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling

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Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1128/MCB.00646-09
P932PMC publication ID2863708
P698PubMed publication ID20308328

P50authorStanislas LyonnetQ7598948
Frank Lezoualc'hQ40389426
Mélanie MétrichQ40394406
Armelle YartQ58519521
Thomas EdouardQ61053930
P2093author name stringMaithé Tauber
Béatrice Parfait
Jean-Pierre Salles
Jean-Philippe Combier
Sophie Bel-Vialar
Audrey Nédélec
Francoise Conte-Auriol
Patrick Raynal
P2860cites workA novel role for Gab1 and SHP2 in epidermal growth factor-induced Ras activationQ24318482
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1Q24321087
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairQ24336157
Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseQ24540529
A simplified system for generating recombinant adenovirusesQ24682328
The docking protein Gab1 is the primary mediator of EGF-stimulated activation of the PI-3K/Akt cell survival pathwayQ24799816
Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defectsQ27314678
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyQ27865193
Germline gain-of-function mutations in SOS1 cause Noonan syndromeQ28276979
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effectsQ28288812
Germline KRAS mutations cause Noonan syndromeQ28297024
Stops along the RAS pathway in human genetic diseaseQ28300658
Epac mediates beta-adrenergic receptor-induced cardiomyocyte hypertrophyQ28581098
Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factorQ28587239
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutationQ28594140
The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolismQ29547302
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signalingQ30477015
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumQ33637874
Molecular mechanism for the Shp-2 tyrosine phosphatase function in promoting growth factor stimulation of Erk activityQ33962208
Cellular function of phosphoinositide 3-kinases: implications for development, homeostasis, and cancer.Q34099883
Shp2, an SH2-containing protein-tyrosine phosphatase, positively regulates receptor tyrosine kinase signaling by dephosphorylating and inactivating the inhibitor SproutyQ34307028
GSK3 takes centre stage more than 20 years after its discoveryQ34374129
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.Q34421680
Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndromeQ35879519
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transductionQ36599297
Glycogen synthase kinase-3beta -- actively inhibiting hypertrophyQ36785340
Cardiotrophin-1 activates a distinct form of cardiac muscle cell hypertrophy. Assembly of sarcomeric units in series VIA gp130/leukemia inhibitory factor receptor-dependent pathwaysQ36798027
Ras and phosphoinositide 3-kinase: partners in development and tumorigenesisQ36997611
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndromeQ36999895
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila developmentQ37102143
Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformationQ37112471
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activationQ38631424
Receptor-specific regulation of phosphatidylinositol 3'-kinase activation by the protein tyrosine phosphatase Shp2.Q39674852
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesisQ39917153
Signal strength dictates phosphoinositide 3-kinase contribution to Ras/extracellular signal-regulated kinase 1 and 2 activation via differential Gab1/Shp2 recruitment: consequences for resistance to epidermal growth factor receptor inhibitionQ40048491
Glycogen synthase kinase 3beta inhibits myocardin-dependent transcription and hypertrophy induction through site-specific phosphorylationQ40377590
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationQ40587895
Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficienciesQ41103757
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndromeQ42445553
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypesQ42480603
Shp2 regulates SRC family kinase activity and Ras/Erk activation by controlling Csk recruitmentQ42831428
Induction-independent recruitment of CREB-binding protein to the c-fos serum response element through interactions between the bromodomain and Elk-1.Q42834097
Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumorsQ46417560
cAMP-binding protein Epac induces cardiomyocyte hypertrophy.Q46790567
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Q52000174
The Adaptor Protein Gab1 Couples the Stimulation of Vascular Endothelial Growth Factor Receptor-2 to the Activation of Phosphoinositide 3-KinaseQ64355677
The adaptor protein Gab1 couples the stimulation of vascular endothelial growth factor receptor-2 to the activation of phosphoinositide 3-kinaseQ64377712
Bone morphogenetic proteins negatively control oligodendrocyte precursor specification in the chick spinal cordQ78424874
P4510describes a project that usesImageJQ1659584
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectcell biologyQ7141
LEOPARD syndromeQ1798016
P304page(s)2498-507
P577publication date2010-05-01
P1433published inMolecular and Cellular BiologyQ3319478
P1476titleFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling
P478volume30

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