Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.S52F
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GATA4

NM_001308093.3:p.S52F

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation.

Sakamoto T et al.

Nature Communications, 2022

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

PKG-1α mediates GATA4 transcriptional activity.

Ma Y et al.

Cellular Signalling, 2016

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

Zhang X et al.

Plos One, 2016

27391137 (PubMed )
Supplement: pone.0158904.s003.pdf

Mutation spectrum of GATA4 associated with congenital atrial septal defects.

Yang YQ et al.

Archives of Medical Science : Ams, 2013

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.

Dinesh SM et al.

Genetic Testing and Molecular Biomarkers, 2011

Involvement of a novel GATA4 mutation in atrial septal defects.

Liu XY et al.

International Journal of Molecular Medicine, 2011

Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]

Moskowitz IP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

Chen Y et al.

The Journal of Thoracic and Cardiovascular Surgery, 2010

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

Guida V et al.

Disease Markers, 2010

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ et al.

American Journal of Medical Genetics. Part A, 2009

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

Bouchard MF et al.

Journal of Molecular Endocrinology, 2009

Spectrum of heart disease associated with murine and human GATA4 mutation.

Rajagopal SK et al.

Journal of Molecular and Cellular Cardiology, 2007

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.

Schluterman MK et al.

American Journal of Medical Genetics. Part A, 2007

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

Ramegowda S et al.

Indian Journal of Human Genetics, 2007

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Hirayama-Yamada K et al.

American Journal of Medical Genetics. Part A, 2005

Mutations of transcription factors in human with heart disease for understanding the development and mechanisms of congenital cardiovascular heart disease.

Matsuoka R

Advances in Experimental Medicine and Biology, 2005

Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease.

Manjegowda DS et al.

Indian Journal of Pharmaceutical Sciences, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."