Article

Mutation in the matricellular gene fibulin-4 leads to endothelial dysfunction in resistance arteries

2022-05-21

Abstract excerpt

Mutations in fibulin-4 ( FBLN4 ), a matricellular gene required for extracellular matrix (ECM) assembly, result in autosomal recessive cutis laxa type 1B (ARCL1B), a syndrome characterized by loose skin, aortic aneurysms, pulmonary emphysema and skeletal abnormalities. Fbln4 E57K/E57K mice recapitulated the phenotypes observed in ARCL1B. In particular, they exhibited ascending aortic aneurysms, elastic fiber fra...

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Literature Corpus work: 063b68e7-3ba0-5e63-a991-11f5f1e9cac9
DOI: 10.1101/2022.05.20.492867

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