2021 journal article

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

ORPHANET JOURNAL OF RARE DISEASES, 16(1).

By: K. Meurs n , B. Williams n, D. DeProspero n, S. Friedenberg*, D. Malarkey*, J. Ezzell *, B. Keene n, D. Adin n, T. DeFrancesco n , S. Tou n

author keywords: Hypertrophic cardiomyopathy; ALMS1; Feline; Mitogenic; Sphynx
MeSH headings : Animals; Cardiomyopathy, Hypertrophic / genetics; Cats / genetics; Cell Cycle Proteins / genetics; Exons; Mice; Mutation / genetics
TL;DR: This study demonstrates a novel form of cardiomyopathy associated with ALMS1 in the cat, and suggests that variants in genes involved with cardiac development and cell regulation, like the AL MS1 gene, may deserve further consideration for association with familial hypertrophic cardiopathy. (via Semantic Scholar)
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Source: Web Of Science
Added: April 12, 2021

Abstract