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Article

A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve.

The American journal of cardiology - 15 Dec 2014

Qu Xin-Kai, Qiu Xing-Biao, Yuan Fang, Wang Juan, Zhao Cui-Mei, Liu Xing-Yuan, Zhang Xian-Ling, Li Ruo-Gu, Xu Ying-Jia, Hou Xu-Min, Fang Wei-Yi, Liu Xu, Yang Yi-Qing

Abstract excerpt

Bicuspid aortic valve (BAV) is the most common form of congenital cardiovascular defect in humans and is associated with substantial morbidity and mortality. Emerging evidence demonstrates that genetic risk factors play an important role in the pathogenesis of BAV. However, BAV is a genetically heterogenous disorder, and the genetic defects underpinning BAV in most patients remain to be identified. In the present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25438918
DOI: 10.1016/j.amjcard.2014.09.028

Genes

GATA5

Provenance

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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