Journal article
Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant
- Abstract:
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Titin truncating variants are a well-established cause of cardiomyopathy; however, the role of titin missense variants is less well understood. Here we describe the generation of a mouse model to investigate the underlying disease mechanism of a previously reported titin A178D missense variant identified in a family with non-compaction and dilated cardiomyopathy. Heterozygous and homozygous mice carrying the titin A178D missense variant were characterised in vivo by echocardiography. Heterozy...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, 1.7MB)
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- Publisher copy:
- 10.1007/s00395-021-00853-z
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Funding
Bibliographic Details
- Publisher:
- Springer Publisher's website
- Journal:
- Basic Research in Cardiology Journal website
- Volume:
- 116
- Article number:
- 14
- Publication date:
- 2021-02-26
- Acceptance date:
- 2021-02-04
- DOI:
- EISSN:
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1435-1803
- ISSN:
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0300-8428
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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1160057
- Local pid:
- pubs:1160057
- Deposit date:
- 2021-02-04
Terms of use
- Copyright holder:
- Jiang et al.
- Copyright date:
- 2021
- Rights statement:
- © The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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