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
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.
Cao C et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
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
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
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
A R/K-rich motif in the C-terminal of the homeodomain is required for complete translocating of NKX2.5 protein into nucleus.
Ouyang P et al.
Gene, 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
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung IM et al.
Genes, 2016
[Readthrough on transcription factor NKX2.5 premature stop codon by tRNA suppressors].
Ouyang P et al.
Yi Chuan = Hereditas, 2015
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK et al.
Scientific Reports, 2015
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.
Ouyang P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?
Akçaboy MI et al.
Pediatric Cardiology, 2008
Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis.
Bartlett HL et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2007
Carboxyl terminus of Nkx2.5 impairs its interaction with p300.
Li T et al.
Journal of Molecular Biology, 2007
Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.
König K et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2006
Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases.
Akazawa H et al.
Pharmacology & Therapeutics, 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
Genetics of atrioventricular conduction disease in humans.
Benson DW
The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004
NKX2.5 mutations in patients with congenital heart disease.
McElhinney DB 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
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
Gutierrez-Roelens I et al.
Human Mutation, 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
Congenital heart disease caused by mutations in the transcription factor NKX2-5.
Schott JJ et al.
Science (new York, N.y.), 1998