Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. - Wikidata - awgldk - TriplyDB

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

http://www.wikidata.org/entity/Q37112471

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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 RASopathies: unraveling mechanisms with animal models Small G proteins in the cardiovascular system: physiological and pathological aspects Genetics of valvular heart disease The neural crest in cardiac congenital anomalies Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale.Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes Next-generation sequencing identifies rare variants associated with Noonan syndrome The molecular genetics of congenital heart disease: a review of recent developments.Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.Shp2 activates Fyn and Ras to regulate RBL-2H3 mast cell activation following FcεRI aggregation.Regulation of kidney development by Shp2: an unbiased stereological analysis.Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation Activating mutations in protein tyrosine phosphatase Ptpn11 (Shp2) enhance reactive oxygen species production that contributes to myeloproliferative disorder The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration.The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease.Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.Epithelial-to-mesenchymal and endothelial-to-mesenchymal transition: from cardiovascular development to disease.Expression and clinical significance of tyrosine phosphatase SHP2 in thyroid carcinoma PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?Partitioning the heart: mechanisms of cardiac septation and valve development Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.A tyrosine phosphatase SHP2 gain-of-function mutation enhances malignancy of breast carcinoma Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.Heart valve development: regulatory networks in development and disease Low-dose dasatinib rescues cardiac function in Noonan syndrome.In vivo severity ranking of Ras pathway mutations associated with developmental disorders.SHP-2 deletion in postmigratory neural crest cells results in impaired cardiac sympathetic innervation.Molecular and cellular mechanisms of learning disabilities: a focus on NF1.Molecular and developmental mechanisms of congenital heart valve disease.Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure.Modulation of VEGF receptor 2 signaling by protein phosphatases.Modeling RASopathies with Genetically Modified Mouse Models.SH2 Domain-Containing Phosphatase-2 Is a Novel Antifibrotic Regulator in Pulmonary Fibrosis.Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

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Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

http://www.wikidata.org/entity/Q37112471

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 February 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

@en

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

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type

label

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

@en

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

@nl

prefLabel

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

@en

Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

@nl

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PNAS.0810053106

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Proceedings of the National Academy of Sciences of the United States of America

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Noonan syndrome cardiac defect ...... al-mesenchymal transformation.

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Benjamin G Neel

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Gordon Chan

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Lily Morikawa

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Roderick T Bronson

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Susan Newbigging

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Toshiyuki Araki

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P2860

Development of heart valves requires Gata4 expression in endothelial-derived cells

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Heart-valve mesenchyme formation is dependent on hyaluronan-augmented activation of ErbB2-ErbB3 receptors

Severe neuropathies in mice with targeted mutations in the ErbB3 receptor

Stops along the RAS pathway in human genetic disease

A critical role for the EphA3 receptor tyrosine kinase in heart development

Nf1 has an essential role in endothelial cells

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

Extracellular fibrillar structure of latent TGF beta binding protein-1: role in TGF beta-dependent endothelial-mesenchymal transformation during endocardial cushion tissue formation in mouse embryonic heart

Neuregulin-1 protects ventricular myocytes from anthracycline-induced apoptosis via erbB4-dependent activation of PI3-kinase/Akt

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