GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

By V. Garg, Irfan S. Kathiriya, Robert Barnes, Marie K. Schluterman, I. King, C. Butler, Caryn R. Rothrock, R. Eapen, Kayoko Hirayama-Yamada, Kunitaka Joo and 3 more. Nature, 2003

1,262 citations recorded by the source corpus.

Subfields: Epidemiology, Molecular Biology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/8cfa60f4e880cc8070aefec75dc8f53dfcd1724e

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In Pulmonary and Respiratory Medicine

Deepak Srivastava

Citations in the corpus

Thymosin β4 activates integrin-linked kinase and promotes cardiac cell migration, survival and cardiac repair (2004, methodology): “Co-immunoprecipitation Cos1 and 10T1/2 cells were transfected with thymosin β4, PINCH and/or ILK and lysates precipitated with antibodies to each as previously describe”
Direct Reprogramming of Fibroblasts into Functional Cardiomyocytes by Defined Factors (2010, background): “They interact with one another, coactivate cardiac gene expression (e.g., Nppa, Gja5 [Cx40], and Myh6), and promote cardiomyocyte differentiation (Bruneau et al., 2001; Garg et al., 2003; Ghosh et al., 2009; Lin et al., 1997).”
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). (2011, background): “5 or GATA4) are more likely.(103,114) In absence of congenital heart disease, CCD also may precede left ventricular contractile dysfunction and development of dilated cardiomyopathy.”
Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2. (2007, background): “GATA4 heterozygosity in humans causes VSDs, suggesting this family of genes also plays a role in ventricular septation (Garg et al., 2003).”
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). (2011, background): “5 or GATA4) are more likely.(103,114) In absence of congenital heart disease, CCD also”
The changing epidemiology of congenital heart disease (2011, background): “Examples of disease-causing mutations with presumed high penetrance contributing to nonsyndromic congenital heart disease are those in the GATA4 and NKX2-5 genes, which are transcriptional regulators essential for heart formation”
Dedifferentiation, transdifferentiation and reprogramming: three routes to regeneration (2011, background): “There is much evidence showing that all three factors interact with one another to drive the genetic programme regulating cardiomyocyte differentiatio”
Zebrafish as a model to study cardiac development and human cardiac disease (2011, background): “One such cSNP was identified in GATA4, for which a causal relation with AVS defect was demonstrated in other studies.(65) The 10 remaining”
The developmental genetics of congenital heart disease (2008, background): “The importance of interacting transcription factors was further emphasized by studies showing that mutations in the zinc-finger transcription-factor-encoding gene GATA4 cause inherited septation defect”
Making or breaking the heart: from lineage determination to morphogenesis. (2006, background): “Recent findings with the cardiac transcription factors NKX2-5, TBX5, and GATA4 exemplify the synergy between human genetics and studies of model organisms for understanding the etiology of congenital heart disease (Table 1).”