Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

doi:10.1093/cvr/cvaf279

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Article

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Cardiovascular research - 24 Feb 2026

Fréneau Milène, Blanchet Raphael, Bodet Maxence, Benichi Sandro, Mrad Mary-Adel, Batta Surya Prakash Rao, Rio Marc, Bonnaud Stéphanie, Lindenbaum Pierre, Laporte Fabien, Cuénot Stéphane, Quillard Thibaud, Maillasson Mike, Morel Sandrine, Kwak Brenda R, Bijlenga Philippe, Deleuze Jean-François, Dina Christian, Chatel Stéphanie, Bourcereau Emmanuelle, Jouan Solène, Consoli Arturo, Dargazanli Cyril, Ognard Julien, Desal Hubert, Vion Anne-Clémence, Bourcier Romain, Loirand Gervaise, Redon Richard

Abstract excerpt

AIMS: Intracranial aneurysm (IA) is a common cerebrovascular abnormality characterized by localized dilation and wall thinning in cerebral arteries, which can rupture and lead to fatal subarachnoid haemorrhage. Although genetic factors can contribute to IA, the genetic pre-disposition of IA is largely unknown. This study aims to identify rare functional variants associated with IA in families with multiple...

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PMID: 41508845
DOI: 10.1093/cvr/cvaf279

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