{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:07:34Z","timestamp":1791331654926,"version":"4.3.1"},"reference-count":90,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,7,10]],"date-time":"2014-07-10T00:00:00Z","timestamp":1404950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health - NIAMS","doi-asserted-by":"crossref","award":["042044"],"award-info":[{"award-number":["042044"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health - NIAMS","doi-asserted-by":"crossref","award":["049698"],"award-info":[{"award-number":["049698"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100002247","name":"National Marfan Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100002247","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>\n                    Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (\n                    <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>\n                    ) and a few clinically related diseases that share, with\n                    <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>\n                    , the pathogenic contribution of dysregulated transforming growth factor \u03b2 (\n                    <jats:styled-content style=\"fixed-case\">TGF\u03b2<\/jats:styled-content>\n                    ) signaling. They include Loeys\u2013Dietz syndrome, Shprintzen\u2013Goldberg syndrome, aneurysm\u2013osteoarthritis syndrome and syndromic thoracic aortic aneurysms. Unlike the causal association of\n                    <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>\n                    with mutations in an extracellular matrix protein (\n                    <jats:styled-content style=\"fixed-case\">ECM<\/jats:styled-content>\n                    ), the aforementioned conditions are due to defects in components of the\n                    <jats:styled-content style=\"fixed-case\">TGF\u03b2<\/jats:styled-content>\n                    pathway. While\n                    <jats:styled-content style=\"fixed-case\">TGF\u03b2<\/jats:styled-content>\n                    antagonism is being considered as a potential new therapy for these heritable syndromes, several points still need to be clarified in relevant animal models before this strategy could be safely applied to patients. Among others, unresolved issues include whether elevated\n                    <jats:styled-content style=\"fixed-case\">TGF\u03b2<\/jats:styled-content>\n                    signaling is responsible for all\n                    <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>\n                    manifestations and is the common trigger of disease in\n                    <jats:styled-content style=\"fixed-case\">MFS<\/jats:styled-content>\n                    and related conditions. The scope of our review is to highlight the clinical and experimental findings that have forged our understanding of the natural history and molecular pathogenesis of cardiovascular manifestations in this group of syndromic conditions.\n                  <\/jats:p>","DOI":"10.1111\/cge.12436","type":"journal-article","created":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T09:19:36Z","timestamp":1401182376000},"page":"11-20","source":"Crossref","is-referenced-by-count":64,"title":["Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes"],"prefix":"10.1111","volume":"87","author":[{"given":"J.R.","family":"Cook","sequence":"first","affiliation":[{"name":"Department of Pharmacology and Systems Therapeutics Icahn School of Medicine at Mount Sinai  New York NY 10029 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Carta","sequence":"additional","affiliation":[{"name":"Department of Pharmacology 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