Congenital heart disease caused by mutations in the transcription factor NKX2-5
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Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathwaysFunctional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart diseaseChoreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyCsx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heartTranscription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]Mutation in myosin heavy chain 6 causes atrial septal defectAlpha-cardiac actin mutations produce atrial septal defectsGATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5Common variation in ISL1 confers genetic susceptibility for human congenital heart diseaseEvidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion intervalMutations 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 functionCooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formationA novel LIM protein Cal promotes cardiac differentiation by association with CSX/NKX2-5Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathEarly myocardial function affects endocardial cushion development in zebrafishIdentification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging techniqueDrosophila tools and assays for the study of human diseasesGenetic testing in congenital heart disease: A clinical approachGenetics of Congenital Heart Defects: The NKX2-5 Gene, a Key PlayerDid homeobox gene duplications contribute to the Cambrian explosion?Epigenetic mechanisms in cardiac development and diseaseCongenital heart disease: emerging themes linking genetics and developmentGenetics of congenital heart disease: the glass half emptyOf mice and men: molecular genetics of congenital heart diseaseGene regulatory networks in cardiac conduction system developmentComparative approaches to the study of physiology: Drosophila as a physiological tool.Ciona 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.Congenital and childhood atrioventricular blocks: pathophysiology and contemporary managementFunctional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect PatientsThe cardiac conduction systemHomeodomain-interacting protein kinases, a novel family of co-repressors for homeodomain transcription factorsJUMONJI, a critical factor for cardiac development, functions as a transcriptional repressorDistal 5q deletion syndrome: phenotypic correlationsInherited conduction system abnormalities--one group of diseases, many genesScience, medicine, and the future: Genetics and cardiovascular risk.
P2860
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P2860
Congenital heart disease caused by mutations in the transcription factor NKX2-5
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@ast
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en-gb
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@nl
type
label
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@ast
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en-gb
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@nl
prefLabel
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@ast
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en-gb
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@nl
P2093
P921
P3181
P1433
P1476
Congenital heart disease caused by mutations in the transcription factor NKX2-5
@en
P2093
C E Seidman
C T Basson
D W Benson
G M Silberbach
J G Seidman
J J Schott
P304
P3181
P356
10.1126/SCIENCE.281.5373.108
P407
P577
1998-07-03T00:00:00Z