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Article

Exon- and contraction-dependent functions of titin in sarcomere assembly.

Development (Cambridge, England) - 15 Dec 2016

Shih Yu-Huan, Dvornikov Alexey V, Zhu Ping, Ma Xiao, Kim Maengjo, Ding Yonghe, Xu Xiaolei

Abstract excerpt

Titin-truncating variants (TTNtvs) are the major cause of dilated cardiomyopathy (DCM); however, allelic heterogeneity (TTNtvs in different exons) results in variable phenotypes, and remains a major hurdle for disease diagnosis and therapy. Here, we generated a panel of ttn mutants in zebrafish. Four single deletion mutants in ttn.2 or ttn.1 resulted in four phenotypes and three double ttn.2/ttn.1 mutants...

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Identifiers

PMID: 27836965
DOI: 10.1242/dev.139246
PMCID: PMC5201027

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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