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Article

TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Biochemical and biophysical research communications - 27 Mar 2015

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

Abstract excerpt

The cardiac T-box transcription factor TBX5 is crucial for proper cardiovascular development, and mutations in TBX5 have been associated with various congenital heart diseases and arrhythmias in humans. However, whether mutated TBX5 contributes to dilated cardiomyopathy (DCM) remains unclear. In this study, the coding exons and flanking introns of the TBX5 gene were sequenced in 190 unrelated patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25725155
DOI: 10.1016/j.bbrc.2015.02.094

Genes

TBX5
GATA4

Variants

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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