Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
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Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heartNew mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleNKX3.1 activates expression of insulin-like growth factor binding protein-3 to mediate insulin-like growth factor-I signaling and cell proliferationMutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathyThe Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesisLoss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart diseaseTbx20 regulates a genetic program essential to adult mouse cardiomyocyte functionCAM and cell fate targeting: molecular and energetic insights into cell growth and differentiation.Genetic testing in congenital heart disease: A clinical approachGenetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerOf mice and men: molecular genetics of congenital heart diseaseCiona as a Simple Chordate Model for Heart Development and RegenerationCrystal Structure of the Human NKX2.5 Homeodomain in Complex with DNA TargetAn Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation.Distal 5q deletion syndrome: phenotypic correlationsA novel myocyte-specific gene Midori promotes the differentiation of P19CL6 cells into cardiomyocytesDifferential expression and function of Tbx5 and Tbx20 in cardiac developmentSlow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiationMorphogenesis of the right ventricle requires myocardial expression of Gata4Spectrum of heart disease associated with murine and human GATA4 mutationCharacterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoproteinCsm, a cardiac-specific isoform of the RNA helicase Mov10l1, is regulated by Nkx2.5 in embryonic heartNkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction systemStructure, Expression, and Function of a Novel Intercalated Disc Protein, XinPerinatal loss of Nkx2-5 results in rapid conduction and contraction defectsGenetics and Genomics of Congenital Heart Disease.Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis.Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformationPoint mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.Prediction and validation of protein-protein interactors from genome-wide DNA-binding data using a knowledge-based machine-learning approachClinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.Physiology, pathology and relatedness of human tissues from gene expression meta-analysis.Right into the heart of microRNA-133a.Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heartMolecular genetics of congenital atrial septal defectsAn expanded phenotype of maternal SSA/SSB antibody-associated fetal cardiac disease.The zebrafish as a tool to identify novel therapies for human cardiovascular disease.High prevalence of associated birth defects in congenital hypothyroidism.
P2860
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P2860
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in the cardiac trans ...... cardiac developmental pathways
@ast
Mutations in the cardiac trans ...... cardiac developmental pathways
@en
Mutations in the cardiac trans ...... cardiac developmental pathways
@en-gb
Mutations in the cardiac trans ...... cardiac developmental pathways
@nl
type
label
Mutations in the cardiac trans ...... cardiac developmental pathways
@ast
Mutations in the cardiac trans ...... cardiac developmental pathways
@en
Mutations in the cardiac trans ...... cardiac developmental pathways
@en-gb
Mutations in the cardiac trans ...... cardiac developmental pathways
@nl
prefLabel
Mutations in the cardiac trans ...... cardiac developmental pathways
@ast
Mutations in the cardiac trans ...... cardiac developmental pathways
@en
Mutations in the cardiac trans ...... cardiac developmental pathways
@en-gb
Mutations in the cardiac trans ...... cardiac developmental pathways
@nl
P2093
P2860
P921
P3181
P356
P1476
Mutations in the cardiac trans ...... cardiac developmental pathways
@en
P2093
A Kavanaugh-McHugh
C Cottrill
C E Seidman
D W Benson
G M Silberbach
J D Kugler
J G Seidman
M C Johnson
M S Watson
P2860
P304
P3181
P356
10.1172/JCI8154
P407
P577
1999-12-01T00:00:00Z