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Article

Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.

The Journal of biological chemistry - 18 Sept 2009

Fan Chun, Chen Qiuyun, Wang Qing Kenneth

Abstract excerpt

TBX5 is a T-box transcriptional factor required for cardiogenesis and limb development. TBX5 mutations cause Holt-Oram syndrome characterized by congenital heart defects and upper limb deformations. Here we establish a novel function for TBX5 in pre-mRNA splicing, and we show that this function is relevant to the pathogenesis of Holt-Oram syndrome, providing a novel pathogenic mechanism for the disease....

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Source

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Identifiers

PMID: 19648116
DOI: 10.1074/jbc.M109.041368
PMCID: PMC2757967

Genes

TBX5

Variants

Provenance

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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