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
Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.
Lei X et al.
Journal of Molecular Biology, 2020
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
In Vitro Modeling of Congenital Heart Defects Associated with an NKX2-5 Mutation Revealed a Dysregulation in BMP/Notch-Mediated Signaling.
Zakariyah AF et al.
Stem Cells (dayton, Ohio), 2018
Association Between Mutations in the NKX2.5 Homeobox, Atrial Septal Defects, Ventricular Noncompaction and Sudden Cardiac Death.
Palomino Doza J et al.
Revista Espanola De Cardiologia (english Ed.), 2018
Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.
Zakariyah AF et al.
Journal of Molecular and Cellular Cardiology, 2017
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
NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?
Balci MM et al.
International Journal of Cardiology, 2011
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
Stallmeyer B 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 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
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
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