Associated Papers
Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.
Abseyi SN et al.
Journal of Endocrinological Investigation, 2025
Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.
Bayanova M et al.
Bmc Nephrology, 2025
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.
Zhou Y et al.
Science Advances, 2025
Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.
Yao W et al.
Translational Andrology and Urology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
Chen H et al.
Biology of Sex Differences, 2024
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.
Zhang W et al.
Andrology, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.
Aversa T et al.
Genes, 2023
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 2023
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
Çelik N et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant.
Shichiri Y et al.
Congenital Anomalies, 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation.
Sakamoto T et al.
Nature Communications, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.
Li Y et al.
American Journal of Translational Research, 2021
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease.
Yang L et al.
Database : the Journal of Biological Databases and Curation, 2020
Functional analysis of rare variants of GATA4 identified in Chinese patients with congenital heart defect.
Zhao Z et al.
Genesis (new York, N.y. : 2000), 2019
[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].
Chen LT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
GATA4 Loss-of-Function Mutation and the Congenitally Bicuspid Aortic Valve.
Li RG et al.
The American Journal of Cardiology, 2018
Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.
Zhang Y et al.
Medicine, 2017
Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.
Liu Y et al.
Pediatric Cardiology, 2017
A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y et al.
Scientific Reports, 2016
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
Zhang X et al.
Plos One, 2016
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Prendiville T et al.
Cold Spring Harbor Perspectives in Medicine, 2014
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
Novel GATA4 mutations in patients with congenital ventricular septal defects.
Yang YQ et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012
GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.
Dinesh SM et al.
Genetic Testing and Molecular Biomarkers, 2011
A novel GATA4 mutation responsible for congenital ventricular septal defects.
Wang J et al.
International Journal of Molecular Medicine, 2011
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL et al.
Genetic Testing and Molecular Biomarkers, 2010
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
Peng T et al.
Genetica, 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
Spectrum of heart disease associated with murine and human GATA4 mutation.
Rajagopal SK et al.
Journal of Molecular and Cellular Cardiology, 2007
GATA4 mutations in 486 Chinese patients with congenital heart disease.
Zhang W et al.
European Journal of Medical Genetics, 0
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
Navigating a Case of Swyer Syndrome with Congenital Heart Disease.
Subramanyam K et al.
Heart Views : the Official Journal of the Gulf Heart Association, 0