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Page 1
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.
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project; Milewicz DM. Regalado ES, et al. Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21. Circ Res. 2011. PMID: 21778426 Free PMC article.
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Villamizar C, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):80-4. doi: 10.1016/j.ejmg.2009.11.001. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941982 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. 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.