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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: lafont al. 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.
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM. Tran-Fadulu V, et al. Among authors: lafont al. J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542084