Article
Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function.
Stroke - 1 Apr 2022
Roy Vincent, Ross Jay P, Pépin Rémy, Cortez Ghio Sergio, Brodeur Alyssa, Touzel Deschênes Lydia, Le-Bel Gaëtan, Phillips Daniel E, Milot Geneviève, Dion Patrick A, Guérin Sylvain, Germain Lucie, Berthod François, Auger François A, Rouleau Guy A, Dupré Nicolas, Gros-Louis François
Abstract excerpt
BACKGROUND: Variants in the ring finger protein 213 (RNF213) gene are known to be associated with increased predisposition to cerebrovascular diseases development. Genomic studies have identified RNF213 as a major risk factor of Moyamoya disease in East Asian descendants. However, little is known about the RNF213 (ring finger protein 213) biological functions or its associated pathogenic mechanisms underlying...
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