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Article

Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects.

Gene - 15 Oct 2012

Qin Xianyun, Xing Qining, Ma Liming, Meng Haihong, Liu Yumei, Pang Shuchao, Yan Bo

Abstract excerpt

Congenital heart disease (CHD) is one of the most common birth defects in humans. Mutations in cardiac transcription factor genes, such as GATA4, NKX2-5 and TBX5 genes, have been associated to a small portion of familial and isolated CHD cases. NKX2-5, a highly conserved homeobox gene, is expressed in the developing heart. During embryonic development, NKX2-5 plays pivotal roles in specifying cardiac progenitors,...

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Topics

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Share to Enhancer Elements, Genetic
Share to Heart Septal Defects, Ventricular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

Share to Infant

Share to Infant, Newborn

Share to Promoter Regions, Genetic

Share to Transcription Factors

Source

Identifiers

PMID: 22824467
DOI: 10.1016/j.gene.2012.07.019

Genes

GATA4
TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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