Article
The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-β signalling.
Cardiovascular research - 31 Dec 2024
He Zongsheng, IJpma Arne S, Vreeken Dianne, Heijsman Daphne, Rosier Karen, Verhagen Hence J M, de Bruin Jorg L, Brüggenwirth Hennie T, Roos-Hesselink Jolien W, Bekkers Jos A, Huylebroeck Danny F E, van Beusekom Heleen M M, Creemers John W M, Majoor-Krakauer Danielle
Abstract excerpt
AIMS: Aortic aneurysms (AA) frequently involve dysregulation of transforming growth factor β (TGF-β)-signalling in the aorta. Here, FURIN was tested as aneurysm predisposition gene given its role as proprotein convertase in pro-TGF-β maturation. METHODS AND RESULTS: Rare FURIN variants were detected by whole-exome sequencing of 781 unrelated aortic aneurysm patients and affected relatives. Thirteen rare...
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