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Article

Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects.

Gene - 25 Jul 2013

Huang Wenhui, Meng Haihong, Qiao Yuangang, Pang Shuchao, Chen Dongfeng, Yan Bo

Abstract excerpt

Mortality in patients with congenital heart disease (CHD) is significantly increased even with successful surgeries. The main causes are late cardiac complications, such as heart failure and arrhythmia, probably due to genetic defects. To date, genetic causes for CHD remain largely unknown. NKX2-5 gene encodes a highly conserved homeobox transcription factor, which is essential to the heart development in embryos...

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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 HEK293 Cells

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Share to Homeobox Protein Nkx-2.5

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Source

Identifiers

PMID: 23644027
DOI: 10.1016/j.gene.2013.04.043

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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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