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TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Inamoto S, Kwartler CS, Lafont AL, Liang YY, Fadulu VT, Duraisamy S, Willing M, Estrera A, Safi H, Hannibal MC, Carey J, Wiktorowicz J, Tan FK, Feng XH, Pannu H, Milewicz DM. Inamoto S, et al. Among authors: kwartler cs. Cardiovasc Res. 2010 Dec 1;88(3):520-9. doi: 10.1093/cvr/cvq230. Epub 2010 Jul 13. Cardiovasc Res. 2010. PMID: 20628007 Free PMC article.
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM; GenTAC Investigators. Kuang SQ, et al. PLoS Genet. 2011 Jun;7(6):e1002118. doi: 10.1371/journal.pgen.1002118. Epub 2011 Jun 16. PLoS Genet. 2011. PMID: 21698135 Free PMC article.
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. Kuang SQ, et al. Among authors: kwartler cs. Circ Res. 2012 May 25;110(11):1411-22. doi: 10.1161/CIRCRESAHA.111.261743. Epub 2012 Apr 17. Circ Res. 2012. PMID: 22511748 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. Among authors: kwartler cs. 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.
Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells.
Kwartler CS, Chen J, Thakur D, Li S, Baskin K, Wang S, Wang ZV, Walker L, Hill JA, Epstein HF, Taegtmeyer H, Milewicz DM. Kwartler CS, et al. J Biol Chem. 2014 May 16;289(20):14075-88. doi: 10.1074/jbc.M113.499277. Epub 2014 Apr 7. J Biol Chem. 2014. PMID: 24711452 Free PMC article.
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. Kuang SQ, et al. Among authors: kwartler cs. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8. J Clin Invest. 2016. PMID: 26854927 Free PMC article.
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