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
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
Electrical disorders in atrial septal defect: genetics and heritability.
Aoki H et al.
Journal of Thoracic Disease, 2018
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
Su W et al.
Clinical Genetics, 2017
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
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
Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism.
Hatemi AC et al.
Anadolu Kardiyoloji Dergisi : Akd = the Anatolian Journal of Cardiology, 2011
NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?
Balci MM et al.
International Journal of Cardiology, 2011
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
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
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
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
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
Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression.
Harris BS et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
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
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