Associated Papers
A novel NKX2-5 mutation causing atrial septal defect and high-degree atrioventricular block in a Chinese family.
Liu H et al.
Esc Heart Failure, 2026
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
Human Genetics of Truncus Arteriosus.
Yamagishi H
Advances in Experimental Medicine and Biology, 2024
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Franceschi R et al.
Archives of Endocrinology and Metabolism, 2023
Association of T-box gene polymorphisms with the risk of Wolff-Parkinson-White syndrome in a Han Chinese population.
Han B et al.
Medicine, 2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review.
Paolucci M et al.
Genes, 2021
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
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Alcántara-Ortigoza MA et al.
Children (basel, Switzerland), 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
The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.
Shi Y et al.
Genetic Testing and Molecular Biomarkers, 2019
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.
Behiry EG et al.
Molecular Genetics & Genomic Medicine, 2019
Gene-environment interaction impacts on heart development and embryo survival.
Moreau JLM et al.
Development (cambridge, England), 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
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 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
High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.
Nettore IC et al.
Journal of Endocrinological Investigation, 2018
Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.
Pulignani S et al.
Pediatric Cardiology, 2018
Computational modeling suggests impaired interactions between NKX2.5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2.5 mutation.
Mattapally S et al.
Oncotarget, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism.
Khatami M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy.
Xu JH et al.
International Heart Journal, 2017
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
Su W et al.
Clinical Genetics, 2017
NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.
El Bouchikhi I et al.
Anatolian Journal of Cardiology, 2017
Disorders of thyroid morphogenesis.
Abu-Khudir R et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.
Ellesøe SG et al.
Congenital Heart Disease, 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
The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.
Cerqueira TL et al.
Archives of Endocrinology and Metabolism, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.
Yuan F et al.
International Journal of Molecular Medicine, 2015
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.
Opitz R et al.
Endocrinology, 2015
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
Blue GM et al.
Journal of the American College of Cardiology, 2014
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
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
Beffagna G et al.
Journal of Cardiovascular Medicine (hagerstown, Md.), 2013
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
Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.
Wang Z et al.
Plos One, 2013
Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
Reamon-Buettner SM et al.
Plos One, 2013
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.
van Engelen K et al.
Plos One, 2012
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
De Luca A et al.
Clinical Genetics, 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