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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: papke cl. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM. Guo DC, et al. Among authors: papke cl. Am J Hum Genet. 2009 May;84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409525 Free PMC article.
Pathogenesis of thoracic and abdominal aortic aneurysms.
Guo DC, Papke CL, He R, Milewicz DM. Guo DC, et al. Among authors: papke cl. Ann N Y Acad Sci. 2006 Nov;1085:339-52. doi: 10.1196/annals.1383.013. Ann N Y Acad Sci. 2006. PMID: 17182954 Review.
Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms.
He R, Guo DC, Sun W, Papke CL, Duraisamy S, Estrera AL, Safi HJ, Ahn C, Buja LM, Arnett FC, Zhang J, Geng YJ, Milewicz DM. He R, et al. Among authors: papke cl. J Thorac Cardiovasc Surg. 2008 Oct;136(4):922-9, 929.e1. doi: 10.1016/j.jtcvs.2007.12.063. Epub 2008 Jun 12. J Thorac Cardiovasc Surg. 2008. PMID: 18954631 Free PMC 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.
Papke CL, Cao J, Kwartler CS, Villamizar C, Byanova KL, Lim SM, Sreenivasappa H, Fischer G, Pham J, Rees M, Wang M, Chaponnier C, Gabbiani G, Khakoo AY, Chandra J, Trache A, Zimmer W, Milewicz DM. Papke CL, et al. Hum Mol Genet. 2013 Aug 1;22(15):3123-37. doi: 10.1093/hmg/ddt167. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591991 Free PMC article.
Loss of Smooth Muscle α-Actin Leads to NF-κB-Dependent Increased Sensitivity to Angiotensin II in Smooth Muscle Cells and Aortic Enlargement.
Chen J, Peters A, Papke CL, Villamizar C, Ringuette LJ, Cao J, Wang S, Ma S, Gong L, Byanova KL, Xiong J, Zhu MX, Madonna R, Kee P, Geng YJ, Brasier AR, Davis EC, Prakash S, Kwartler CS, Milewicz DM. Chen J, et al. Among authors: papke cl. Circ Res. 2017 Jun 9;120(12):1903-1915. doi: 10.1161/CIRCRESAHA.117.310563. Epub 2017 May 1. Circ Res. 2017. PMID: 28461455 Free PMC article.
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