{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T02:46:41Z","timestamp":1791600401503,"version":"4.3.4"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2011,1,9]],"date-time":"2011-01-09T00:00:00Z","timestamp":1294531200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1038\/ng.744","type":"journal-article","created":{"date-parts":[[2011,1,9]],"date-time":"2011-01-09T14:19:07Z","timestamp":1294582747000},"page":"121-126","source":"Crossref","is-referenced-by-count":630,"title":["Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis"],"prefix":"10.1038","volume":"43","author":[{"given":"Ingrid M B H","family":"van de Laar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogier A","family":"Oldenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolien W","family":"Roos-Hesselink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca M","family":"de Graaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith M A","family":"Verhagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne M","family":"Hoedemaekers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies-Anne","family":"Severijnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanka","family":"Venselaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Vriend","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M","family":"Pattynama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margriet","family":"Coll\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Majoor-Krakauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don","family":"Poldermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M E","family":"Frohn-Mulder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke","family":"Timmermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Hilhorst-Hofstee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sita M","family":"Bierma-Zeinstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan M","family":"Kros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin H G","family":"Oei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben A","family":"Oostra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja W","family":"Wessels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida M","family":"Bertoli-Avella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,1,9]]},"reference":[{"key":"BFng744_CR1","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/383168a0","volume":"383","author":"Y Zhang","year":"1996","unstructured":"Zhang, Y., Feng, X., We, R. & Derynck, R. Receptor-associated Mad homologues synergize as effectors of the TGF-beta response. Nature 383, 168\u2013172 (1996).","journal-title":"Nature"},{"key":"BFng744_CR2","doi-asserted-by":"publisher","first-page":"2783","DOI":"10.1101\/gad.1350705","volume":"19","author":"J Massague","year":"2005","unstructured":"Massague, J., Seoane, J. & Wotton, D. Smad transcription factors. Genes Dev. 19, 2783\u20132810 (2005).","journal-title":"Genes Dev."},{"key":"BFng744_CR3","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1128\/MCB.19.4.2495","volume":"19","author":"MB Datto","year":"1999","unstructured":"Datto, M.B. et al. Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction. Mol. Cell. Biol. 19, 2495\u20132504 (1999).","journal-title":"Mol. Cell. Biol."},{"key":"BFng744_CR4","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1161\/01.ATV.7.6.637","volume":"7","author":"DE Lilienfeld","year":"1987","unstructured":"Lilienfeld, D.E., Gunderson, P.D., Sprafka, J.M. & Vargas, C. Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981. Arteriosclerosis 7, 637\u2013643 (1987).","journal-title":"Arteriosclerosis"},{"key":"BFng744_CR5","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1511","volume":"37","author":"BL Loeys","year":"2005","unstructured":"Loeys, B.L. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37, 275\u2013281 (2005).","journal-title":"Nat. Genet."},{"key":"BFng744_CR6","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/ng1764","volume":"38","author":"PJ Coucke","year":"2006","unstructured":"Coucke, P.J. et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat. Genet. 38, 452\u2013457 (2006).","journal-title":"Nat. Genet."},{"key":"BFng744_CR7","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1097\/PAS.0b013e31817f3661","volume":"33","author":"JJ Maleszewski","year":"2009","unstructured":"Maleszewski, J.J., Miller, D.V., Lu, J., Dietz, H.C. & Halushka, M.K. Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). Am. J. Surg. Pathol. 33, 194\u2013201 (2009).","journal-title":"Am. J. Surg. Pathol."},{"key":"BFng744_CR8","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/ng1116","volume":"33","author":"ER Neptune","year":"2003","unstructured":"Neptune, E.R. et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33, 407\u2013411 (2003).","journal-title":"Nat. Genet."},{"key":"BFng744_CR9","doi-asserted-by":"publisher","first-page":"I200","DOI":"10.1161\/CIRCULATIONAHA.106.643940","volume":"114","author":"X Wang","year":"2006","unstructured":"Wang, X. et al. Increased collagen deposition and elevated expression of connective tissue growth factor in human thoracic aortic dissection. Circulation 114, I200\u2013I205 (2006).","journal-title":"Circulation"},{"key":"BFng744_CR10","doi-asserted-by":"publisher","first-page":"17058","DOI":"10.1074\/jbc.M100754200","volume":"276","author":"F Verrecchia","year":"2001","unstructured":"Verrecchia, F., Chu, M.L. & Mauviel, A. Identification of novel TGF-beta \/Smad gene targets in dermal fibroblasts using a combined cDNA microarray\/promoter transactivation approach. J. Biol. Chem. 276, 17058\u201317062 (2001).","journal-title":"J. Biol. Chem."},{"key":"BFng744_CR11","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1056\/NEJMoa055695","volume":"355","author":"BL Loeys","year":"2006","unstructured":"Loeys, B.L. et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N. Engl. J. Med. 355, 788\u2013798 (2006).","journal-title":"N. Engl. J. Med."},{"key":"BFng744_CR12","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/S0002-9149(00)80066-1","volume":"75","author":"DI Silverman","year":"1995","unstructured":"Silverman, D.I. et al. Life expectancy in the Marfan syndrome. Am. J. Cardiol. 75, 157\u2013160 (1995).","journal-title":"Am. J. Cardiol."},{"key":"BFng744_CR13","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/j.molcel.2004.07.016","volume":"15","author":"BM Chacko","year":"2004","unstructured":"Chacko, B.M. et al. Structural basis of heteromeric smad protein assembly in TGF-beta signaling. Mol. Cell 15, 813\u2013823 (2004).","journal-title":"Mol. Cell"},{"key":"BFng744_CR14","doi-asserted-by":"publisher","first-page":"13775","DOI":"10.1021\/bi701540u","volume":"46","author":"V Prokova","year":"2007","unstructured":"Prokova, V., Mavridou, S., Papakosta, P., Petratos, K. & Kardassis, D. Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. Biochemistry 46, 13775\u201313786 (2007).","journal-title":"Biochemistry"},{"key":"BFng744_CR15","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1002\/path.2516","volume":"218","author":"D Gomez","year":"2009","unstructured":"Gomez, D. et al. Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway. J. Pathol. 218, 131\u2013142 (2009).","journal-title":"J. Pathol."},{"key":"BFng744_CR16","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1083\/jcb.153.1.35","volume":"153","author":"X Yang","year":"2001","unstructured":"Yang, X. et al. TGF-beta\/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J. Cell Biol. 153, 35\u201346 (2001).","journal-title":"J. Cell Biol."},{"key":"BFng744_CR17","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1097\/BRS.0b013e3181a3c7c7","volume":"34","author":"CG Li","year":"2009","unstructured":"Li, C.G. et al. A continuous observation of the degenerative process in the intervertebral disc of Smad3 gene knock-out mice. Spine 34, 1363\u20131369 (2009).","journal-title":"Spine"},{"key":"BFng744_CR18","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1016\/j.ahj.2007.06.024","volume":"154","author":"RV Lacro","year":"2007","unstructured":"Lacro, R.V. et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am. Heart J. 154, 624\u2013631 (2007).","journal-title":"Am. Heart J."},{"key":"BFng744_CR19","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1086\/520125","volume":"81","author":"L Faivre","year":"2007","unstructured":"Faivre, L. et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am. J. Hum. Genet. 81, 454\u2013466 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng744_CR20","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","volume":"64","author":"MJ Roman","year":"1989","unstructured":"Roman, M.J., Devereux, R.B., Kramer-Fox, R. & O\u2032Loughlin, J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am. J. Cardiol. 64, 507\u2013512 (1989).","journal-title":"Am. J. Cardiol."},{"key":"BFng744_CR21","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jcct.2008.08.002","volume":"2","author":"FY Lin","year":"2008","unstructured":"Lin, F.Y. et al. Assessment of the thoracic aorta by multidetector computed tomography: age- and sex-specific reference values in adults without evident cardiovascular disease. J. Cardiovasc. Comput. Tomogr. 2, 298\u2013308 (2008).","journal-title":"J. Cardiovasc. Comput. Tomogr."},{"key":"BFng744_CR22","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1136\/ard.16.4.494","volume":"16","author":"JH Kellgren","year":"1957","unstructured":"Kellgren, J.H. & Lawrence, J.S. Radiological assessment of osteo-arthrosis. Ann. Rheum. Dis. 16, 494\u2013502 (1957).","journal-title":"Ann. Rheum. Dis."},{"key":"BFng744_CR23","first-page":"1911","volume":"20","author":"NE Lane","year":"1993","unstructured":"Lane, N.E., Nevitt, M.C., Genant, H.K. & Hochberg, M.C. Reliability of new indices of radiographic osteoarthritis of the hand and hip and lumbar disc degeneration. J. Rheumatol. 20, 1911\u20131918 (1993).","journal-title":"J. Rheumatol."},{"key":"BFng744_CR24","doi-asserted-by":"publisher","first-page":"2485","DOI":"10.1093\/eurheartj\/ehp271","volume":"30","author":"I van de Laar","year":"2009","unstructured":"van de Laar, I. et al. First locus for primary pulmonary vein stenosis maps to chromosome 2q. Eur. Heart J. 30, 2485\u20132492 (2009).","journal-title":"Eur. Heart J."},{"key":"BFng744_CR25","doi-asserted-by":"publisher","first-page":"3565","DOI":"10.1093\/bioinformatics\/bti571","volume":"21","author":"K Hoffmann","year":"2005","unstructured":"Hoffmann, K. & Lindner, T.H. easyLINKAGE-Plus\u2013automated linkage analyses using large-scale SNP data. Bioinformatics 21, 3565\u20133567 (2005).","journal-title":"Bioinformatics"},{"key":"BFng744_CR26","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1002\/prot.10104","volume":"47","author":"E Krieger","year":"2002","unstructured":"Krieger, E., Koraimann, G. & Vriend, G. Increasing the precision of comparative models with YASARA NOVA\u2013a self-parameterizing force field. Proteins 47, 393\u2013402 (2002).","journal-title":"Proteins"},{"key":"BFng744_CR27","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/0263-7855(90)80070-V","volume":"8","author":"G Vriend","year":"1990","unstructured":"Vriend, G. WHAT IF: a molecular modeling and drug design program. J. Mol. Graph. 8, 52\u201356 (1990).","journal-title":"J. Mol. Graph."},{"key":"BFng744_CR28","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1006\/excr.2000.4932","volume":"258","author":"CE Bakker","year":"2000","unstructured":"Bakker, C.E. et al. Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp. Cell Res. 258, 162\u2013170 (2000).","journal-title":"Exp. Cell Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.744.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.744","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.744.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:11:47Z","timestamp":1684426307000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,9]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["BFng744"],"URL":"https:\/\/doi.org\/10.1038\/ng.744","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.9012957.11891054","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.9012957.9578057","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.9012957.10772055","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,9]]}}}