Associated Papers
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
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
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
Prediction and validation of protein-protein interactors from genome-wide DNA-binding data using a knowledge-based machine-learning approach.
Waardenberg AJ et al.
Open Biology, 2016
Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Chung IM et al.
Genes, 2016
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
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
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.
van Engelen K et al.
Plos One, 2012
NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?
Balci MM et al.
International Journal of Cardiology, 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
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
[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
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
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
Dentice M et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.
Baekvad-Hansen M et al.
American Journal of Medical Genetics. Part A, 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
Mechanisms of inherited cardiac conduction disease.
Smits JP et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2005
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