Associated Papers
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
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
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
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
NKX2.5 mutations in patients with non-syndromic congenital heart disease.
Gioli-Pereira L et al.
International Journal of Cardiology, 2010
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene.
Bjørnstad PG et al.
Cardiology in the Young, 2009
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
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
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
[Familial ventricular septal defect].
Rachocka J et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1988