{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T03:02:55Z","timestamp":1792638175723,"version":"4.5.0"},"reference-count":69,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,6,30]]},"abstract":"<jats:p>Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP are considered ciliopathies. Here, we discuss sequence variants found within a number of these splicing factors, the resulting phenotypes, and the mechanisms underpinning disease pathology. Additionally, we discuss recent evidence investigating why RP patients with mutations in globally expressed splicing factors present with retina-specific phenotypes.<\/jats:p>","DOI":"10.1042\/bst20200798","type":"journal-article","created":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T21:28:25Z","timestamp":1622582905000},"page":"1221-1231","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The role of splicing factors in retinitis pigmentosa: links to cilia"],"prefix":"10.1042","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6630-5040","authenticated-orcid":false,"given":"Dale W.","family":"Maxwell","sequence":"first","affiliation":[{"name":"Division of Evolution and Genome Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, U.K."},{"name":"Institute of Molecular and Cell Biology, Proteos, 61 Biopolis Drive, Singapore 138673, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond T.","family":"O'Keefe","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genome Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudipto","family":"Roy","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology, Proteos, 61 Biopolis Drive, Singapore 138673, Singapore"},{"name":"Department of Biological Sciences, National University of Singapore, 14 Science Drive 4, Singapore 117543, Singapore"},{"name":"Department of Pediatrics, National University of Singapore, 1E Kent Ridge Road, Singapore 119228, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8917-3765","authenticated-orcid":false,"given":"Kathryn E.","family":"Hentges","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genome Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, M13 9PT, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2021,6,1]]},"reference":[{"key":"2021111916113045000_BST-2020-0798CC1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.4161\/org.26710","article-title":"The role of primary cilia in the development and disease of the retina","volume":"10","year":"2014","journal-title":"Organogenesis"},{"key":"2021111916113045000_BST-2020-0798CC2","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","article-title":"Primary ciliary dyskinesia in the genomics age","volume":"8","year":"2020","journal-title":"Lancet Respir. 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