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Article

The TTN p. Tyr4418Ter mutation causes cardiomyopathy in human and mice.

PloS one - 1 Jan 2024

Sun Wenqiang, Liu Xiaohui, Song Laichun, Tao Liang, Lai Kaisheng, Jiang Hui, Xiao Hongyan

Abstract excerpt

OBJECTIVE: To generate a mouse model carrying TTNtv Y4370* simulating the newly discovered human heterozygous nonsense TTNtv c.13254T>G (p.Tyr4418Ter) to supplement and improve the functional evidence of pathogenic mutation TTNtv c.13254T>G on the pathogenic type of dilated cardiomyopathy. METHODS: We generated 4 mice carrying TTNtv p. Y4370* through CRISPR/Cas-mediated genome engineering. Monthly serological...

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Source

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Identifiers

PMID: 38381767
DOI: 10.1371/journal.pone.0296802
PMCID: PMC10880961

Genes

TTN

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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