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Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant

Abstract:

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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Publisher copy:
10.1007/s00395-021-00853-z

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0002-4020-5364
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
Expand authors...
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:
1435-1803
ISSN:
0300-8428
Language:
English
Keywords:
Pubs id:
1160057
Local pid:
pubs:1160057
Deposit date:
2021-02-04

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