{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:34:30Z","timestamp":1777044870788,"version":"3.51.4"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Negat Results BioMed"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (<jats:italic>FBN1<\/jats:italic>) gene, and mutations in <jats:italic>FBN1<\/jats:italic> are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes <jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic> identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-\u00df signaling is involved in MFS pathogenesis. To test the hypothesis that dysregulation of TGFBR3-associated TGF-\u00df signaling is implicated in MFS or related phenotype pathogenesis, we selected a cohort of 49 patients, fulfilling or nearly fulfilling the diagnostic criteria for MFS. The patients were known not to carry a mutation in the <jats:italic>FBN1<\/jats:italic> gene (including three 5' upstream alternatively spliced exons), the <jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic> genes. Mutation screening for the <jats:italic>TGFBR3<\/jats:italic> gene in these patients and in controls led to the identification of a total of ten exonic (one novel), four intronic (one novel) and one 3'UTR variant in the <jats:italic>TGFBR3<\/jats:italic> gene. Our data suggest that variations in <jats:italic>TGFBR3<\/jats:italic> gene appear not to be associated with MFS or related phenotype.<\/jats:p>","DOI":"10.1186\/1477-5751-11-9","type":"journal-article","created":{"date-parts":[[2012,3,12]],"date-time":"2012-03-12T17:15:02Z","timestamp":1331572502000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome"],"prefix":"10.1186","volume":"11","author":[{"given":"Krishna K","family":"Singh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joerg","family":"Schmidtke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Britta","family":"Keyser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mine","family":"Arslan-Kirchner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"issue":"3","key":"113_CR1","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1038\/ng1194-264","volume":"8","author":"G Collod","year":"1994","unstructured":"Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaiti-Pellie C, Junien C, Boileau C: A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. 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