Citations for
1ACTA2, TAAD4
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
Lu H, Fagnant PM, Bookwalter CS, Joel P, Trybus KM.
Proc Natl Acad Sci U S A 112(31):E4168-77. doi: 10.1073/pnas.1507587112. Epub 2015 Jul 7. 2015
2ACTA2, TAAD4
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.
Yetman AT, Starr LJ, Bleyl SB, Meyers L, Delaney JW.
Pediatrics 136(1):e262-6. doi: 10.1542/peds.2014-3032. Epub 2015 Jun 1. 2015
3ACTA2, TAAD4
Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.
Malloy LE, Wen KK, Pierick AR, Wedemeyer EW, Bergeron SE, Vanderpool ND, McKane M, Rubenstein PA, Bartlett HL.
J Biol Chem 287(34):28398-408. doi: 10.1074/jbc.M112.371914. Epub 2012 Jun 29. 2012
4ACTA2, LDS1A, LDS1B, TAAD4, TGFBR1, TGFBR2
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
Regalado E, Medrek S, Tran-Fadulu V, Guo DC, Pannu H, Golabbakhsh H, Smart S, Chen JH, Shete S, Kim DH, Stern R, Braverman AC, Milewicz DM.
Am J Med Genet A 155A(9):2125-30. doi: 10.1002/ajmg.a.34050. Epub 2011 Aug 3. 2011
5FTAA1, FTAA2, FTAA4, TAA, TAAD1, TAAD4
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.
Am J Hum Genet 87(6):743-56. Epub 2010 Nov 18.PMID: 21092924 2010
6ACTA2, TAAD4
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
Morisaki H, Akutsu K, Ogino H, Kondo N, Yamanaka I, Tsutsumi Y, Yoshimuta T, Okajima T, Matsuda H, Minatoya K, Sasaki H, Tanaka H, Ishibashi-Ueda H, Morisaki T.
Hum Mutat 30(10):1406-11.PMID: 19639654 2009
7ACTA2, MSMD1, MYMY5, TAAD4
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.
Am J Hum Genet 84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. 2009
8ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
Wessels MW, Willems PJ.
Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
9ACTA2, TAAD4
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.
Nat Genet 39(12):1488-93. Epub 2007 Nov 11. 2007