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Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice

Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_3113065012

Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice

About this item

Full title

Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice

Publisher

United States: Public Library of Science

Journal title

PloS one, 2024-10, Vol.19 (10), p.e0311670

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Titin-truncating variant (
TTNtv
) is the most common genetic cause of dilated cardiomyopathy (DCM). In the previous study, we found a novel heterozygous
TTN
tv c.13254T>G (p.Tyr4418Ter) associated with DCM, but lacking functional evidence. The purpose of this study is to demonstrate the pathogenicity of
TTNtv
c.13254T>G. We const...

Alternative Titles

Full title

Integrated multi-omics approach revealed TTNtv c.13254T>G causing dilated cardiomyopathy in mice

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_3113065012

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_3113065012

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0311670

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