Article
Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β.
Human molecular genetics - 1 Aug 2013
Papke Christina L, Cao Jiumei, Kwartler Callie S, Villamizar Carlos, Byanova Katerina L, Lim Soon-Mi, Sreenivasappa Harini, Fischer Grant, Pham John, Rees Meredith, Wang Miranda, Chaponnier Christine, Gabbiani Giulio, Khakoo Aarif Y, Chandra Joya, Trache Andreea, Zimmer Warren, Milewicz Dianna M
Abstract excerpt
Mutations in ACTA2, encoding the smooth muscle cell (SMC)-specific isoform of α-actin (α-SMA), cause thoracic aortic aneurysms and dissections and occlusive vascular diseases, including early onset coronary artery disease and stroke. We have shown that occlusive arterial lesions in patients with heterozygous ACTA2 missense mutations show increased numbers of medial or neointimal SMCs. The contribution of SMC...
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