{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:05:07Z","timestamp":1791291907557,"version":"4.1.0"},"reference-count":35,"publisher":"Cold Spring Harbor Laboratory","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2002,7,15]]},"abstract":"<jats:p>\n                    A nonsense mutation in the\n                    <jats:italic>fibrillin-1<\/jats:italic>\n                    (\n                    <jats:italic>FBN1<\/jats:italic>\n                    ) gene of a Marfan syndrome (MFS) patient induces in-frame exon skipping of\n                    <jats:italic>FBN1<\/jats:italic>\n                    exon 51. We present evidence, based on both in vivo and in vitro experiments, that the skipping of this exon is due to the disruption of an SC35-dependent splicing enhancer within exon 51. In addition, this nonsense mutation induces nonsense-mediated decay (NMD), which degrades the normally spliced mRNA in the patient's cells. In contrast to NMD, skipping of\n                    <jats:italic>FBN1<\/jats:italic>\n                    exon 51 does not require translation.\n                  <\/jats:p>","DOI":"10.1101\/gad.997502","type":"journal-article","created":{"date-parts":[[2002,7,28]],"date-time":"2002-07-28T18:41:43Z","timestamp":1027881703000},"page":"1754-1759","source":"Crossref","is-referenced-by-count":81,"title":["A nonsense mutation in the\n                    <i>fibrillin-1<\/i>\n                    gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer"],"prefix":"10.1101","volume":"16","author":[{"given":"Massimo","family":"Caputi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Raymond J.","family":"Kendzior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen L.","family":"Beemon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2002,7,15]]},"reference":[{"key":"2021111508080355000_16.14.1754.1","first-page":"2760","article-title":"Nonsense codons within the Rous sarcoma virus gag gene decrease the stability of unspliced viral RNA.","volume":"11","author":"Barker","year":"1991","journal-title":"Mol. 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