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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: tran fadulu v. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. LeMaire SA, et al. Among authors: tran fadulu v. Nat Clin Pract Cardiovasc Med. 2007 Mar;4(3):167-71. doi: 10.1038/ncpcardio0797. Nat Clin Pract Cardiovasc Med. 2007. PMID: 17330129 Free PMC article.
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: tran fadulu v. 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.
Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection.
Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM. Guo DC, et al. Among authors: tran fadulu v. Circ Cardiovasc Genet. 2011 Feb;4(1):36-42. doi: 10.1161/CIRCGENETICS.110.958066. Epub 2010 Dec 16. Circ Cardiovasc Genet. 2011. PMID: 21163914 Free PMC article.
13 results