A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleThe Kruppel-like transcription factor KLF13 is a novel regulator of heart developmentA gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defectsGATA4 loss-of-function mutations underlie familial tetralogy of fallotLoss-of-function mutation in GATA4 causes anomalies of human testicular developmentChromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaCytogenomic Aberrations in Congenital Cardiovascular MalformationsGenetics of congenital heart disease: the glass half emptyOf mice and men: molecular genetics of congenital heart diseaseMammalian sex determination—insights from humans and mice.Gata4 is necessary for normal pulmonary lobar developmentSpectrum of heart disease associated with murine and human GATA4 mutationInteraction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac developmentEffect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease.Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.Molecular genetics of congenital atrial septal defectsNovel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic herniaInsights into the genetic structure of congenital heart disease from human and murine studies on monogenic disordersIdentification of differently expressed genes and small molecule drugs for Tetralogy of Fallot by bioinformatics strategy.Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.Carboxy terminus of GATA4 transcription factor is required for its cardiogenic activity and interaction with CDK4.Identification of functional mutations in GATA4 in patients with congenital heart diseaseLoss of Gata5 in mice leads to bicuspid aortic valve.c.620C>T mutation in GATA4 is associated with congenital heart disease in South India.Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.Nuclear Receptor-Like Structure and Interaction of Congenital Heart Disease-Associated Factors GATA4 and NKX2-5.Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.Molecular genetics of congenital diaphragmatic defects.Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseA variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.GATA5 loss-of-function mutations underlie tetralogy of fallot.Novel GATA4 mutations in patients with congenital ventricular septal defects.Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defectGATA4 is a direct transcriptional activator of cyclin D2 and Cdk4 and is required for cardiomyocyte proliferation in anterior heart field-derived myocardium.Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.GATA4 sequence variants in patients with congenital heart disease.Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot.Mutation spectrum of GATA4 associated with congenital atrial septal defects
P2860
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P2860
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@en
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@nl
type
label
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@en
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@nl
prefLabel
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@en
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@nl
P2093
P356
P1433
P1476
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
@en
P2093
Fadi Bitar
Fatimah Fadlalah
Georges Nemer
Ghassan Dbaibo
Julnar Usta
Mounir Obeid
P304
P356
10.1002/HUMU.9410
P50
P577
2006-03-01T00:00:00Z