Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

scientific article

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1172/JCI44972
P932PMC publication ID3049377
P698PubMed publication ID21339643

P50authorTalita M MarinQ56875615
P2093author name stringMichael Bauer
Bo Wang
Benjamin G Neel
Roderick Bronson
Maria I Kontaridis
Xue Wu
Kleber G Franchini
Benjamin Davies
David A Conner
Demetrios Kalaitzidis
Kimberly Keith
Jessica Lauriol
Prajna Guha
P2860cites workLeopard syndromeQ21202917
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeQ24291893
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneQ24299557
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingQ24304242
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1Q24321087
Rapamycin selectively inhibits angiotensin II-induced increase in protein synthesis in cardiac myocytes in vitro. Potential role of 70-kD S6 kinase in angiotensin II-induced cardiac hypertrophyQ71807337
Hypertrophic cardiomyopathy in Noonan syndromeQ71967975
Rapamycin inhibits alpha 1-adrenergic receptor-stimulated cardiac myocyte hypertrophy but not activation of hypertrophy-associated genes. Evidence for involvement of p70 S6 kinaseQ73554710
Activation of mRNA translation in rat cardiac myocytes by insulin involves multiple rapamycin-sensitive stepsQ73630601
Noonan syndrome and aortic coarctationQ77521849
Inhibition of mTOR reduces chronic pressure-overload cardiac hypertrophy and fibrosisQ80027046
Microarray analysis of Akt1 activation in transgenic mouse hearts reveals transcript expression profiles associated with compensatory hypertrophy and failureQ80044502
Two novel and one recurrent PTPN11 mutations in LEOPARD syndromeQ80609337
Electrotonic modulation of cardiac impulse conduction by myofibroblasts.Q48721222
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Q52000174
Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth.Q52142765
Distinct molecular phenotypes in murine cardiac muscle development, growth, and hypertrophy.Q52180073
[Rapamycin and CCI-779]Q53805382
The face of Noonan syndrome: Does phenotype predict genotype.Q55097554
PI3Kγ Modulates the Cardiac Response to Chronic Pressure Overload by Distinct Kinase-Dependent and -Independent EffectsQ57006372
Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1Q58193644
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patientsQ70503201
The Leopard (multiple lentigines) syndrome revisitedQ70746131
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairQ24336157
Protein kinase cascades in the regulation of cardiac hypertrophyQ24518494
Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseQ24540529
Cardiac remodelling: concentric versus eccentric hypertrophy in strength and endurance athletesQ24653777
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
A restricted spectrum of NRAS mutations causes Noonan syndromeQ27658480
Crystal structure of the tyrosine phosphatase SHP-2Q27748898
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyQ27865193
The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signalingQ28182148
Potential pharmacological interventions in polycystic kidney diseaseQ28258516
Cardiac hypertrophy induced by mitogen-activated protein kinase kinase 7, a specific activator for c-Jun NH2-terminal kinase in ventricular muscle cellsQ28263599
Three-Dimensional Structures of Acidic and Basic Fibroblast Growth FactorsQ28267322
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathyQ28268916
PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromesQ28275701
Germline gain-of-function mutations in SOS1 cause Noonan syndromeQ28276979
The mTOR pathway and its role in human genetic diseasesQ28285976
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effectsQ28288812
Germline KRAS mutations cause Noonan syndromeQ28297024
LEOPARD syndrome: clinical diagnosis in the first year of lifeQ28300885
MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblastsQ28511032
Rapid transcriptional activation and early mRNA turnover of brain natriuretic peptide in cardiocyte hypertrophy. Evidence for brain natriuretic peptide as an "emergency" cardiac hormone against ventricular overloadQ28568167
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutationQ28594140
Shp2 negatively regulates growth in cardiomyocytes by controlling focal adhesion kinase/Src and mTOR pathwaysQ28854293
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canalQ29013212
A highly efficient recombineering-based method for generating conditional knockout mutationsQ29615157
Clinical proof-of-concept trial to assess the therapeutic effect of sirolimus in patients with autosomal dominant polycystic kidney disease: SUISSE ADPKD studyQ33299027
Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical modelsQ33430534
Cardiac fibroblasts are essential for the adaptive response of the murine heart to pressure overloadQ33559670
Mammalian target of rapamycin is a critical regulator of cardiac hypertrophy in spontaneously hypertensive rats.Q33576908
Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.Q33702386
Shp-2 tyrosine phosphatase: signaling one cell or manyQ33783500
Noonan syndrome: clinical aspects and molecular pathogenesisQ33806161
Regulation of myocardial contractility and cell size by distinct PI3K-PTEN signaling pathwaysQ39750571
Akt promotes survival of cardiomyocytes in vitro and protects against ischemia-reperfusion injury in mouse heart.Q39870130
Recent Advances in the Molecular Genetics of Hypertrophic CardiomyopathyQ40467490
Molecular regulation of atrioventricular valvuloseptal morphogenesisQ40549504
Molecular basis of familial cardiomyopathiesQ40559439
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activationQ40587895
The tyrosine phosphatase SHP-2 is required for mediating phosphatidylinositol 3-kinase/Akt activation by growth factorsQ40775807
The genetic basis of pediatric cardiovascular diseaseQ41415560
SH2-containing phosphotyrosine phosphatase as a target of protein-tyrosine kinasesQ41566173
Revealing mechanisms for SH2 domain mediated regulation of the protein tyrosine phosphatase SHP-2.Q41743522
Shp-2 mediates v-Src-induced morphological changes and activation of the anti-apoptotic protein kinase Akt.Q41751641
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypesQ42480603
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesisQ42591567
PTPN11 mutations in LEOPARD syndromeQ43056955
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.Q43073992
Cardiac fibroblasts regulate myocardial proliferation through beta1 integrin signalingQ43152071
Mammalian target of rapamycin and autosomal dominant polycystic kidney diseaseQ43299411
Cardiac-specific overexpression of GLUT1 prevents the development of heart failure attributable to pressure overload in miceQ44179204
Ras/Erk signaling is essential for activation of protein synthesis by Gq protein-coupled receptor agonists in adult cardiomyocytesQ44201590
Activation of signal transducer and activator of transcription (STAT) pathways in failing human hearts.Q44301871
Rapamycin attenuates load-induced cardiac hypertrophy in miceQ44385669
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesisQ44673842
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaQ44775999
Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathyQ46952138
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndromeQ33910479
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathyQ34120159
Combinatorial control of the specificity of protein tyrosine phosphatasesQ34180660
Akt/protein kinase B promotes organ growth in transgenic miceQ34276940
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutationQ34360215
Altered glucose homeostasis in mice with liver-specific deletion of Src homology phosphatase 2Q34400843
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityQ34522913
Noonan syndrome and related disorders: genetics and pathogenesisQ34560418
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutationQ34627221
Germline gain-of-function mutations in RAF1 cause Noonan syndromeQ34644154
The role of the mammalian target of rapamycin (mTOR) in renal diseaseQ34659391
Raptor and mTOR: Subunits of a Nutrient-Sensitive ComplexQ35560388
Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cellsQ35847802
Hypertrophic cardiomyopathy in childhoodQ35872427
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemiaQ36100102
The conserved phosphoinositide 3-kinase pathway determines heart size in miceQ36246110
Phosphoinositide 3-kinase(p110α) plays a critical role for the induction of physiological, but not pathological, cardiac hypertrophyQ36350066
Cardiac restricted overexpression of kinase-dead mammalian target of rapamycin (mTOR) mutant impairs the mTOR-mediated signaling and cardiac functionQ36646353
HRAS and the Costello syndromeQ36717501
The genetics of congenital heart disease: a review of recent developments.Q36782724
Signaling pathways mediating cardiac myocyte gene expression in physiological and stress responsesQ36798390
Role of ERK1/2 signaling in congenital valve malformations in Noonan syndromeQ36999895
The tyrosine phosphatase Shp2 (PTPN11) in cancer.Q37088972
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
Hypertrophic cardiomyopathy: current understanding and treatment objectivesQ37302532
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathwayQ37343475
Gene recombination in postmitotic cells. Targeted expression of Cre recombinase provokes cardiac-restricted, site-specific rearrangement in adult ventricular muscle in vivo.Q37369799
Evaluating temsirolimus activity in multiple tumors: a review of clinical trialsQ37645019
Genetic and pathogenetic aspects of Noonan syndrome and related disordersQ37661298
Deletion of Ptpn11 (Shp2) in cardiomyocytes causes dilated cardiomyopathy via effects on the extracellular signal-regulated kinase/mitogen-activated protein kinase and RhoA signaling pathwaysQ38605378
Structural determinants of SHP-2 function and specificity in Xenopus mesoderm inductionQ39631199
Receptor-specific regulation of phosphatidylinositol 3'-kinase activation by the protein tyrosine phosphatase Shp2.Q39674852
Rapamycin regulates Akt and ERK phosphorylation through mTORC1 and mTORC2 signaling pathwaysQ39698423
P4510describes a project that usesImageJQ1659584
P433issue3
P407language of work or nameEnglishQ1860
P921main subjecthypertrophic cardiomyopathyQ1364270
sirolimusQ32089
P304page(s)1026-1043
P577publication date2011-02-21
P1433published inJournal of Clinical InvestigationQ3186904
P1476titleRapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation
P478volume121

Reverse relations

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