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Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified three TAAD loci at 5q13\u201014 (<jats:italic>TAAD1<\/jats:italic>), 11q23 (<jats:italic>FAA1<\/jats:italic>), and 3p24\u201025 (<jats:italic>TAAD2<\/jats:italic>). The underlying genetic heterogeneity of TAAD is reflected in the phenotypic variation associated with familial TAAD with respect to age of onset, progression, penetrance, and association with additional cardiac and vascular features. Recently, mutations in the <jats:italic>TGFBR2<\/jats:italic> gene have been identified as the cause of disease linked to the <jats:italic>TAAD2<\/jats:italic> locus, supporting the hypothesis that dysregulation of TGF\u03b2 signaling is a mechanism leading to aneurysms and dissections. The recent identification of the TGF\u03b2 pathway as a key target in the molecular pathogenesis of TAAD has opened new avenues for future genetic and therapeutic research. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30069","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T15:51:04Z","timestamp":1132156264000},"page":"10-16","source":"Crossref","is-referenced-by-count":58,"title":["Genetic basis of thoracic aortic aneurysms and aortic dissections"],"prefix":"10.1002","volume":"139C","author":[{"given":"Hariyadarshi","family":"Pannu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van","family":"Tran\u2010Fadulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,11,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10333"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117298"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers\u2013Danlos syndromes: Revised nosology, Villefranche, 1997. 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