| 1 | MYH11, TAAD1
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| Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
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| 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.
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| PLoS Genet 7(6):e1002118. Epub 2011 Jun 16.
2011
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| 2 | FTAA1, FTAA2, FTAA4, TAA, TAAD1, TAAD4
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| Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
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| 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.
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| Am J Hum Genet 87(6):743-56. Epub 2010 Nov 18.PMID: 21092924 2010
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| 3 | ACTA2, ACTC1, ASD3, ASD5, CMD1R, CMD1S, CMH1, CMH6, CMHNE, MYBPC3, MYH11, MYH6, MYH7, TAAD1, TAAD4
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| Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
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| Wessels MW, Willems PJ.
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| Clin Genet 74(1):16-9. Epub 2008 Apr 8. 2008
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| 4 | MYH11, TAAD1
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| MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
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| Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM.
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| Hum Mol Genet 16(20):3453-62. Epub 2007 Jul 31. 2007
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| 5 | TAAD1, MYH11
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| Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
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| Zhu L, Vranckx R, Van Kien PK, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X.
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| Nat Genet 38(3):343-9. Epub 2006 Jan 29. 2006
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| 6 | FTAA2, LDS1B, TAAD1
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| Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women.
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| Tran-Fadulu V, Chen JH, Lemuth D, Neichoy BT, Yuan J, Gomes N, Sparks E, Kramer LA, Guo D, Pannu H, Braverman AC, Shete S, Milewicz DM.
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| Am J Med Genet A 140(11):1196-202. 2006
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| 7 | TAAD1
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| Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13.
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| Khau Van Kien P, Mathieu F, Zhu L, Lalande A, Betard C, Lathrop M, Brunotte F, Wolf JE, Jeunemaitre X.
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| Circulation 112(2):200-6. Epub 2005 Jul 5. 2005
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