Article
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Basic research in cardiology - 26 Feb 2021
Jiang He, Hooper Charlotte, Kelly Matthew, Steeples Violetta, Simon Jillian N, Beglov Julia, Azad Amar J, Leinhos Lisa, Bennett Pauline, Ehler Elisabeth, Kalisch-Smith Jacinta I, Sparrow Duncan B, Fischer Roman, Heilig Raphael, Isackson Henrik, Ehsan Mehroz, Patone Giannino, Huebner Norbert, Davies Benjamin, Watkins Hugh, Gehmlich Katja
Abstract excerpt
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...
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