Article
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Human molecular genetics - 16 Nov 2021
Burger Joyce, Bogunovic Natalija, de Wagenaar Nathalie P, Liu Hui, van Vliet Nicole, IJpma Arne, Maugeri Alessandra, Micha Dimitra, Verhagen Hence J M, Ten Hagen Timo L M, Majoor-Krakauer Danielle, van der Pluijm Ingrid, Essers Jeroen, Yeung Kak K
Abstract excerpt
Aortic aneurysms (AAs) are pathological dilatations of the aorta. Pathogenic variants in genes encoding for proteins of the contractile machinery of vascular smooth muscle cells (VSMCs), genes encoding proteins of the transforming growth factor beta signaling pathway and extracellular matrix (ECM) homeostasis play a role in the weakening of the aortic wall. These variants affect the functioning of VSMC, the...
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