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
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy.
Xu JH et al.
International Heart Journal, 2017
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
Furtado MB et al.
Jci Insight, 2017
Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.
Hanley A et al.
Bmc Medical Genetics, 2016
A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.
Yuan F et al.
International Journal of Molecular Medicine, 2015
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
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