{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:34:45Z","timestamp":1790814885660,"version":"4.1.0"},"reference-count":74,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T00:00:00Z","timestamp":1758067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["R01EY022161"],"award-info":[{"award-number":["R01EY022161"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["P30EY030413"],"award-info":[{"award-number":["P30EY030413"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018576","name":"Harrington Discovery Institute, University Hospitals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018576","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>Late-onset Fuchs\u2019 endothelial corneal dystrophy (FECD) is a degenerative disease of cornea manifesting during the fourth decade of life or later. An intronic trinucleotide repeat expansion (CTG18.1) in the transcription factor 4 (<jats:italic>TCF4<\/jats:italic>) gene is estimated to account for two thirds of FECD cases. There is a high degree of similarity between the transcriptomic profiles with (RE+) and without (RE-) the expansion. The molecular mechanisms of FECD and the difference between the two FECD types remain to be elucidated.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Method<\/jats:title>\n<jats:p>Analyses were based on publicly available RNA sequencing datasets of human corneal endothelial tissues. We compared the distributions of differentially expressed genes between the RE+ and RE- transcriptomic profiles for a given co-expression network module. Upstream regulator analysis, alternative splicing analysis, motif enrichment analysis, and structure prediction were conducted.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>The expression levels of ribonucleic acid binding motif protein 20 (<jats:italic>RBM20<\/jats:italic>) were upregulated in both RE+ cases and RE+ controls. Consistently, its motif was enriched in the skipped exon events of RE+ subjects compared with RE- subjects. There were skipped exon events in three genes\u2014<jats:italic>DST<\/jats:italic>, <jats:italic>FNBP1<\/jats:italic> and <jats:italic>SORBS1<\/jats:italic>\u2014 consistently identified in RE+ subjects out of the documented RBM20 target genes in the literature.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>RBM20 may represent an RE+ specific factor in the pathogenesis of FECD. The increase of <jats:italic>RBM20<\/jats:italic> expression in RE+ individuals may contribute to the disease by repressing the inclusion of exons.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0332512","type":"journal-article","created":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T17:35:42Z","timestamp":1758130542000},"page":"e0332512","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["Transcriptomic analysis implicates the involvement of RBM20 in Fuchs\u2019 endothelial corneal dystrophy with TCF4 repeat expansion"],"prefix":"10.1371","volume":"20","author":[{"given":"Xunzhi","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0583-1351","authenticated-orcid":true,"given":"Ze","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aundrea K.","family":"Westfall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunyi","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. 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