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9. ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. Cuoco JA; Busch CM; Klein BJ; Benko MJ; Stein R; Nicholson AD; Marvin EA Cerebrovasc Dis; 2018; 46(3-4):161-171. PubMed ID: 30300893 [TBL] [Abstract][Full Text] [Related]
10. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Munot P; Saunders DE; Milewicz DM; Regalado ES; Ostergaard JR; Braun KP; Kerr T; Lichtenbelt KD; Philip S; Rittey C; Jacques TS; Cox TC; Ganesan V Brain; 2012 Aug; 135(Pt 8):2506-14. PubMed ID: 22831780 [TBL] [Abstract][Full Text] [Related]
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12. Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells. Kuang SQ; Kwartler CS; Byanova KL; Pham J; Gong L; Prakash SK; Huang J; Kamm KE; Stull JT; Sweeney HL; Milewicz DM Circ Res; 2012 May; 110(11):1411-22. PubMed ID: 22511748 [TBL] [Abstract][Full Text] [Related]
13. A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection. Focke JK; Kraemer M Neurol Res Pract; 2023 Aug; 5(1):38. PubMed ID: 37587538 [TBL] [Abstract][Full Text] [Related]
14. Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. Liu Z; Chang AN; Grinnell F; Trybus KM; Milewicz DM; Stull JT; Kamm KE Proc Natl Acad Sci U S A; 2017 Jul; 114(28):E5569-E5578. PubMed ID: 28652363 [TBL] [Abstract][Full Text] [Related]
15. Analysis of ACTA2 in European Moyamoya disease patients. Roder C; Peters V; Kasuya H; Nishizawa T; Wakita S; Berg D; Schulte C; Khan N; Tatagiba M; Krischek B Eur J Paediatr Neurol; 2011 Mar; 15(2):117-22. PubMed ID: 20970362 [TBL] [Abstract][Full Text] [Related]
17. Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms. Yeung KK; Bogunovic N; Keekstra N; Beunders AA; Pals J; van der Kuij K; Overwater E; Wisselink W; Blankensteijn JD; van Hinsbergh VW; Musters RJ; Pals G; Micha D; Zandieh-Doulabi B Hum Mutat; 2017 Apr; 38(4):439-450. PubMed ID: 28074631 [TBL] [Abstract][Full Text] [Related]