Associated Papers
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 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
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
Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants.
Gregers E et al.
Heart Rhythm, 2017
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
Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
Alcántara-Ortigoza MA et al.
Pediatric Cardiology, 2015
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK et al.
Scientific Reports, 2015
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
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation.
Yu H et al.
International Journal of Medical Sciences, 2014
A novel NKX2-5 mutation in familial ventricular septal defect.
Wang J et al.
International Journal of Molecular Medicine, 2011
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
Stallmeyer B et al.
Clinical Genetics, 2010
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
Akçaboy MI et al.
Pediatric Cardiology, 2008
Carboxyl terminus of Nkx2.5 impairs its interaction with p300.
Li T et al.
Journal of Molecular Biology, 2007
Genetics of cardiac septation defects and their pre-implantation diagnosis.
McDermott DA et al.
Methods in Molecular Medicine, 2006
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
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
NKX2.5 mutations in patients with tetralogy of fallot.
Goldmuntz E et al.
Circulation, 2001
[Familial ventricular septal defect].
Rachocka J et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1988