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Study identified novel mutations in GATA4 with relatively higher mutation frequency of 7.7% in a cohort of patients with Tetralogy of Fallot (TF). Five of them are novel and located in the N-terminal transactivation domain and first zinc finger domain. Most of the C-terminal variants are polymorphic. These result not only supports the important role of GATA4 in TG but also expands the spectrum of mutations in GATA4.
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the DNA variants may alter GATA4 gene promoter activity and affect GATA4 levels, thus contributing to AMI development.
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Two GATA4 SNPs rs368418329, rs56166237 are associated with congenital heart disease in Egyptian children.
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The aim of this study was to screen a Moroccan cohort with tetralogy of Fallot for GATA4 mutations, and to assess environmental risk factors that could be involved in the occurrence of this disorder.
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Study demonstrates that GATA4 functions as a tumor suppressor in lung cancer. Mechanistically, GATA4 upregulates multiple miRNAs targeting TGFB2 mRNA and causes ensuing WNT7B downregulation and eventually triggers cell senescence. Targeting the TGF-beta signaling provides a potential way for the treatment of GATA4-deficient lung cancer.
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Comprehensive computational analysis, using well-established web based tools, is suggestive of their potential downstream molecular effects on the structure, stability and expression of GATA4 protein
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abnormal lamin. proteins trigger paracrine senescence through GATA4-dependent pathway in human mesenchymal stem cells.
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The findings support the fact that rare functional variants especially in GATA4 could be associated with BAV, adding novel genetic factors to the list of variants associated with the phenotypic expression of this genetically complex pathology.
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we found two known SNPs (rs56166237, rs3729856) in GATA4. Our study shows no evidence of NKX2-5 and GATA4 somatic mutations playing a role in the pathogenesis of sporadic Congenital Heart Disease.
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data indicate that GATA4 gene might play a role in cell proliferation and differentiation during the progression of pancreatic cancer.
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findings demonstrate that RACK1 is involved in p300/GATA4-dependent hypertrophic responses in cardiomyocytes and is a promising therapeutic target for heart failure
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Studied prevalence of GATA binding protein 4 (GATA4) exon 1 mutation in Egyptian patients with isolated congenital heart defects.
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The single nucleotide polymorphisms (SNPs) of NKX2.5, GATA4, and TBX5 are highly associated with congenital heart diseases in the Chinese population, but not significant in the SNPs of FOG2.
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direct binding of GATA4 to the GNAI3 promoter, both in vitro and in vivo, is reported.
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Report a genome-wide association scan of 466 bicuspid aortic valve cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4.
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GATA4 variants were not associated with Alcohol Use Disorder (AUD) in either the European ancestry or African ancestry groups after correcting for multiple comparisons. Rs10112596 demonstrated a significant relationship with an anxiety measure among the African ancestry group with AUD.
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High GATA4 expression is associated with mesenchymal and migratory phenotype of hepatoblastoma cells.
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GATA4 may inhibit diabetesinduced endothelial dysfunction by acting as a transcription factor for NOX4 expression.
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GATA4 acetylation activated CCND2 transcription, and mutation of GATA4 on K-313 reduced cell viability and increased a mitochondria-dependent apoptosis.
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we found two nucleotide deletions which one of them was novel and one new indel mutation resulting in frame shift mutation, and 4 synonymous variations or polymorphism in 6 of patients and 3 of normal individuals