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These pleiotropic manifestations are accounted for by mutations in fibrillin\u20101, the building block of extracellular microfibrils. During the past 10 years, we have witnessed significant progress in delineating the pathological events responsible for the manifestations of MFS. Much of this progress has been based on the creation and analysis of fibrillin\u20101 mutant mouse lines that faithfully recapitulate the spectrum of clinical severity of MFS. These studies have established the critical contribution of fibrillin\u20101 deficiency to disease progression through altered cell\u2013matrix interactions and dysregulated TGF\u2010\u03b2 signaling. As a result, our definition of MFS as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and function of multiple organ systems. Importantly, new biological targets have emerged that may yield exciting new opportunities for the development of productive treatment strategies in MFS. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30068","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T15:50:58Z","timestamp":1132156258000},"page":"4-9","source":"Crossref","is-referenced-by-count":163,"title":["Recent progress towards a molecular understanding of Marfan syndrome"],"prefix":"10.1002","volume":"139C","author":[{"given":"Harry C.","family":"Dietz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Carta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,11,4]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"13","article-title":"Making sense of latent TGF\u03b2 activation","volume":"142","author":"Annes JP","year":"2003","journal-title":"J Cell Sci"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117298"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4419-9013-6_17"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.08.027"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.88.1.37"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.20000"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008209809028898"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00302726"},{"key":"e_1_2_7_10_1","first-page":"89","article-title":"Smooth muscle cell to elastic lamina connections in developing mouse aorta. 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