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Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions.
Holmes KW, Markwardt S, Eagle KA, Devereux RB, Weinsaft JW, Asch FM, LeMaire SA, Maslen CL, Song HK, Milewicz DM, Prakash SK, Guo D, Morris SA, Pyeritz RE, Milewski RC, Ravekes WJ, Dietz HC, Shohet RV, Silberbach M, Roman MJ; GenTAC Investigators. Holmes KW, et al. Among authors: prakash sk. J Am Coll Cardiol. 2022 May 31;79(21):2069-2081. doi: 10.1016/j.jacc.2022.03.367. J Am Coll Cardiol. 2022. PMID: 35618343 Free PMC article.
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Prakash SK, et al. Am J Hum Genet. 2010 Dec 10;87(6):743-56. doi: 10.1016/j.ajhg.2010.09.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092924 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. Among authors: prakash sk. 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: prakash sk. 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.
168 results