{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:18:41Z","timestamp":1790705921408,"version":"4.1.0"},"reference-count":28,"publisher":"National Academy of Sciences","issue":"49","license":[{"start":{"date-parts":[[2018,11,16]],"date-time":"2018-11-16T00:00:00Z","timestamp":1542326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"RCUK | Medical Research Council","doi-asserted-by":"publisher","award":["MR\/M012212\/1"],"award-info":[{"award-number":["MR\/M012212\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000291","name":"Kidney Research UK","doi-asserted-by":"publisher","award":["PDF_003_20151124"],"award-info":[{"award-number":["PDF_003_20151124"]}],"id":[{"id":"10.13039\/501100000291","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004185","name":"Northern Counties Kidney Research Fund","doi-asserted-by":"publisher","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/501100004185","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"RCUK | Medical Research Council","doi-asserted-by":"publisher","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,12,4]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment. Here we show that by using antisense oligonucleotides, we can induce exon skipping of a mutated exon in\n                    <jats:italic>CEP290<\/jats:italic>\n                    , within renal epithelial cells derived from a patient with a ciliopathy syndrome called Joubert syndrome. This treatment rescues the truncated CEP290 protein to a near full-length protein and restores the ciliary phenotype. In a\n                    <jats:italic>Cep290<\/jats:italic>\n                    murine model of Joubert syndrome, exon skipping is achievable with systemic treatment of an antisense oligonucleotide, which rescues both the ciliary and kidney disease phenotypes. This work paves the way toward personalized genetic therapies in patients with inherited kidney diseases.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1809432115","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T15:15:22Z","timestamp":1554131722000},"page":"12489-12494","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":73,"title":["Targeted exon skipping of a\n                    <i>CEP290<\/i>\n                    mutation rescues Joubert syndrome phenotypes in vitro and in a murine model"],"prefix":"10.1073","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8531-1534","authenticated-orcid":false,"given":"Simon A.","family":"Ramsbottom","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United 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Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"White","sequence":"additional","affiliation":[{"name":"Electron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Steel","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom;"},{"name":"Sunderland Eye Infirmary, Sunderland SR2 9HP, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cit\u00e9 University, Imagine Institute, 75015 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin 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