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Article

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

American journal of medical genetics. Part A - 1 Dec 2021

Dixit Ritu, Narasimhan Chitra, Balekundri Vijayalakshmi I, Agrawal Damyanti, Kumar Ashok, Mohapatra Bhagyalaxmi

Abstract excerpt

NKX2-5, a master cardiac regulatory transcription factor was the first known genetic cause of congenital heart diseases (CHDs). To further investigate its role in CHD pathogenesis, we performed mutational screening of 285 CHD probands and 200 healthy controls. Five coding sequence variants were identified in six CHD cases (2.1%), including three in the N-terminal region (p.A61G, p.R95L, and p.E131K) and one each...

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Share to Gene Expression Regulation
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Promoter Regions, Genetic

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Source

Identifiers

PMID: 34214246
DOI: 10.1002/ajmg.a.62413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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