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Article

Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.

Journal of molecular and cellular cardiology - 1 Apr 2017

Zakariyah Abeer F, Rajgara Rashida F, Veinot John P, Skerjanc Ilona S, Burgon Patrick G

Abstract excerpt

The Nkx2.5 gene encodes a transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in NKX2.5 result in congenital heart defects (CHDs). However, the molecular mechanisms by which these mutations cause the disease remain unknown. NKX2.5-R142C is a mutation that was reported to be associated with atrial septal defect (ASD) and atrioventricular (AV) block in 13-patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28302382
DOI: 10.1016/j.yjmcc.2017.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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