{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:17:52Z","timestamp":1790255872955,"version":"4.1.0"},"reference-count":19,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Thoracic aortic aneurysms and dissections (TAAD) are rare in children and often associated with underlying genetic disorders accompanied with other systemic manifestations, including connective or osteo-articular tissue diseases. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We report the case of a 10-year-old girl with a novel nonsense &lt;i&gt;SMAD3&lt;\/i&gt; mutation, p.Glu102X, who presented with familial TAAD without any signs of osteoarthritis. Histological analysis of aorta fragments from the patient with TAAD obtained during surgery revealed elastin degradation and inflammatory infiltration of T cells with dense CD31 + microvessels, which is consistent with previous findings. Interestingly, the family members with the SMAD3 mutation developed IgA nephropathy. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Because the TGF-\u03b2\/Smad signalling pathway plays an important role in the primary pathogenesis of IgA nephropathy and TAAD, we presume that IgA nephropathy could be a novel clinical phenotype of SMAD3 deficiency. Further accumulation of genetically proven cases with SMAD3 deficiency is needed to more accurately characterize phenotypic variability and elucidate a wide spectrum of TGF-\u03b2-associated disorders.<\/jats:p>","DOI":"10.1159\/000502972","type":"journal-article","created":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T21:00:34Z","timestamp":1570222834000},"page":"53-59","source":"Crossref","is-referenced-by-count":1,"title":["A Nonsense &lt;b&gt;&lt;i&gt;SMAD3&lt;\/i&gt;&lt;\/b&gt; Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality"],"prefix":"10.1159","volume":"144","author":[{"given":"Yoshichika","family":"Maeda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-4034","authenticated-orcid":false,"given":"Kei","family":"Takasawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taku","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Nagashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Mouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kunieda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Morisaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Mori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shozaburo","family":"Doi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,10,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2006.04.098"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvy006"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2016.211"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1639612"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI67356"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/srep10180"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2016.09.006"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.02.001"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23407"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2015.03.012"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.744"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100382"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.111.248161"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01931.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35852"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951118000082"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2006.01.010"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1206793"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-009-0040-3"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/502972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:56:47Z","timestamp":1745423807000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000502972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":19,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2019,10,30]]}},"URL":"https:\/\/doi.org\/10.1159\/000502972","archive":["Portico"],"relation":{},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"value":"0008-6312","type":"print"},{"value":"1421-9751","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}