Article
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Journal of the American College of Cardiology - 7 Apr 2015
Bertoli-Avella Aida M, Gillis Elisabeth, Morisaki Hiroko, Verhagen Judith M A, de Graaf Bianca M, van de Beek Gerarda, Gallo Elena, Kruithof Boudewijn P T, Venselaar Hanka, Myers Loretha A, Laga Steven, Doyle Alexander J, Oswald Gretchen, van Cappellen Gert W A, Yamanaka Itaru, van der Helm Robert M, Beverloo Berna, de Klein Annelies, Pardo Luba, Lammens Martin, Evers Christina, Devriendt Koenraad, Dumoulein Michiel, Timmermans Janneke, Bruggenwirth Hennie T, Verheijen Frans, Rodrigus Inez, Baynam Gareth, Kempers Marlies, Saenen Johan, Van Craenenbroeck Emeline M, Minatoya Kenji, Matsukawa Ritsu, Tsukube Takuro, Kubo Noriaki, Hofstra Robert, Goumans Marie Jose, Bekkers Jos A, Roos-Hesselink Jolien W, van de Laar Ingrid M B H, Dietz Harry C, Van Laer Lut, Morisaki Takayuki, Wessels Marja W, Loeys Bart L
Abstract excerpt
BACKGROUND: Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types of thoracic aortic aneurysms, such as Marfan and Loeys-Dietz syndromes, have revealed an important contribution of disturbed transforming growth factor (TGF)-β signaling. OBJECTIVES: This study sought to...
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