{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:34:46Z","timestamp":1790814886261,"version":"4.1.0"},"reference-count":24,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,17]],"date-time":"2021-12-17T00:00:00Z","timestamp":1639699200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"V\u00e4sterbotten County","award":["RV-931848"],"award-info":[{"award-number":["RV-931848"]}]},{"DOI":"10.13039\/100010810","name":"Swedish Ophthalmological Society","doi-asserted-by":"publisher","award":["2018-04-24, 2021-04-16"],"award-info":[{"award-number":["2018-04-24, 2021-04-16"]}],"id":[{"id":"10.13039\/100010810","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010817","name":"Stiftelsen Kronprinsessan Margaretas Arbetsn\u00e4mnd f\u00f6r Synskadade","doi-asserted-by":"publisher","award":["188-2020-08-31"],"award-info":[{"award-number":["188-2020-08-31"]}],"id":[{"id":"10.13039\/100010817","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fuchs\u2019 endothelial corneal dystrophy (FECD) is a bilateral disease of the cornea caused by gradual loss of corneal endothelial cells. Late-onset FECD is strongly associated with the CTG18.1 trinucleotide repeat expansion in the Transcription Factor 4 gene (TCF4), which forms RNA nuclear foci in corneal endothelial cells. To date, 46 RefSeq transcripts of TCF4 are annotated by the National Center of Biotechnology information (NCBI), however the effect of the CTG18.1 expansion on expression of alternative TCF4 transcripts is not completely understood. To investigate this, we used droplet digital PCR for quantification of TCF4 transcripts spanning over the CTG18.1 and transcripts with transcription start sites immediately downstream of the CTG18.1. TCF4 expression was analysed in corneal endothelium and in whole blood of FECD patients with and without CTG18.1 expansion, in non-FECD controls without CTG18.1 expansion, and in five additional control tissues. Subtle changes in transcription levels in groups of TCF4 transcripts were detected. In corneal endothelium, we found a lower fraction of transcripts spanning over the CTG18.1 tract compared to all other tissues investigated.<\/jats:p>","DOI":"10.3390\/genes12122006","type":"journal-article","created":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T20:37:27Z","timestamp":1639946247000},"page":"2006","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium"],"prefix":"10.3390","volume":"12","author":[{"given":"Ida Maria","family":"Westin","sequence":"first","affiliation":[{"name":"Department of Medical Biosciences, Medical and Clinical Genetics, University of Ume\u00e5, 901 85 Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Viberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Ophthalmology, University of Ume\u00e5, 901 85 Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berit","family":"Bystr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, Ophthalmology, University of Ume\u00e5, 901 85 Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8741-0616","authenticated-orcid":false,"given":"Irina","family":"Golovleva","sequence":"additional","affiliation":[{"name":"Department of Medical Biosciences, Medical and Clinical Genetics, University of Ume\u00e5, 901 85 Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1038\/eye.2008.116","article-title":"Q455V mutation in COL8A2 is associated with Fuchs\u2019 corneal dystrophy in Korean patients","volume":"23","author":"Mok","year":"2009","journal-title":"Eye"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.1167\/iovs.04-0937","article-title":"Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy","volume":"46","author":"Gottsch","year":"2005","journal-title":"Investig. 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