Associated Papers
NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.
Ward AO et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.
Cao C et al.
Frontiers in Cardiovascular Medicine, 2023
Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.
Dixit R et al.
American Journal of Medical Genetics. Part A, 2021
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.
Behiry EG et al.
Molecular Genetics & Genomic Medicine, 2019
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
Kalayinia S et al.
Journal of Cardiovascular and Thoracic Research, 2019
Electrical disorders in atrial septal defect: genetics and heritability.
Aoki H et al.
Journal of Thoracic Disease, 2018
Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.
Khatami M et al.
Medicina (kaunas, Lithuania), 2018
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
Su W et al.
Clinical Genetics, 2017
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung IM et al.
Genes, 2016
A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.
Abdul Samad F et al.
Plos One, 2016
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK et al.
Scientific Reports, 2015
Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
Costa MW et al.
Circulation. Cardiovascular Genetics, 2013
NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?
Balci MM et al.
International Journal of Cardiology, 2011
A novel NKX2-5 mutation in familial ventricular septal defect.
Wang J et al.
International Journal of Molecular Medicine, 2011
Expression of sumoylation deficient Nkx2.5 mutant in Nkx2.5 haploinsufficient mice leads to congenital heart defects.
Kim EY et al.
Plos One, 2011
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
Stallmeyer B et al.
Clinical Genetics, 2010
Single-nucleotide polymorphisms of NKX2.5 found in congenital heart disease patients of Mysore, South India.
Dinesh SM 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
[Novel GATA4 mutations identified in patients with congenital heart disease].
Wang J et al.
Zhonghua Yi Xue Za Zhi, 2010
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
NKX2.5 mutations in patients with non-syndromic congenital heart disease.
Gioli-Pereira L et al.
International Journal of Cardiology, 2010
The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
Akçaboy MI et al.
Pediatric Cardiology, 2008
Genetics of cardiac septation defects and their pre-implantation diagnosis.
McDermott DA et al.
Methods in Molecular Medicine, 2006
Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases.
Akazawa H et al.
Pharmacology & Therapeutics, 2005
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.
Inga A et al.
Human Molecular Genetics, 2005
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
Mechanisms of inherited cardiac conduction disease.
Smits JP et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2005
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Reamon-Buettner SM et al.
Journal of Medical Genetics, 2004
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
Reamon-Buettner SM et al.
The American Journal of Pathology, 2004
NKX2.5 mutations in patients with congenital heart disease.
McElhinney DB et al.
Journal of the American College of Cardiology, 2003
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
Elliott DA et al.
Journal of the American College of Cardiology, 2003
Dual effects of the homeobox transcription factor Csx/Nkx2-5 on cardiomyocytes.
Monzen K et al.
Biochemical and Biophysical Research Communications, 2002
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
Watanabe Y et al.
Journal of Medical Genetics, 2002
Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.
Ikeda Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2002
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
Benson DW et al.
The Journal of Clinical Investigation, 1999
Congenital heart disease caused by mutations in the transcription factor NKX2-5.
Schott JJ et al.
Science (new York, N.y.), 1998
[Familial ventricular septal defect].
Rachocka J et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1988