{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T15:45:34Z","timestamp":1785685534295,"version":"3.56.0"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,23]],"date-time":"2015-03-23T00:00:00Z","timestamp":1427068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["intramural"],"award-info":[{"award-number":["intramural"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2015,4]]},"abstract":"Abstract<\/jats:title>Readthrough of premature termination (stop) codons (PTC<\/jats:styled-content>) is a new approach to treatment of genetic diseases. We recently reported that readthrough of PTC<\/jats:styled-content> in cells from some xeroderma pigmentosum complementation group C (XP<\/jats:styled-content>\u2010C) patients could be achieved with the aminoglycosides geneticin or gentamicin. We found that the response depended on several factors including the PTC<\/jats:styled-content> sequence, its location within the gene and the aminoglycoside used. Here, we extended these studies to investigate the effects of other aminoglycosides that are already on the market. We reasoned that topical treatment could deliver much higher concentrations of drug to the skin, the therapeutic target, and thus increase the therapeutic effect while reducing renal or ototoxicity in comparison with systemic treatment. Our prior clinical studies indicated that only a few percent of normal XPC<\/jats:styled-content> expression was associated with mild clinical disease. We found minimal cell toxicity in the XP<\/jats:styled-content>\u2010C cells with several aminoglycosides. We found increased XPC<\/jats:styled-content><\/jats:italic> mRNA<\/jats:styled-content> expression in PTC<\/jats:styled-content>\u2010containing XP<\/jats:styled-content>\u2010C cells with G418, paromomycin, neomycin and kanamycin and increased XPC<\/jats:styled-content> protein expression with G418. We conclude that in selected patients with XP<\/jats:styled-content>, topical PTC<\/jats:styled-content> therapy can be investigated as a method of personalized medicine to alleviate their cutaneous symptoms.<\/jats:p>","DOI":"10.1111\/exd.12655","type":"journal-article","created":{"date-parts":[[2015,2,4]],"date-time":"2015-02-04T13:28:46Z","timestamp":1423056526000},"page":"296-297","source":"Crossref","is-referenced-by-count":20,"title":["Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C<\/scp> patients"],"prefix":"10.1111","volume":"24","author":[{"given":"Christiane","family":"Kuschal","sequence":"first","affiliation":[{"name":"Dermatology Branch NCI Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sikandar G.","family":"Khan","sequence":"additional","affiliation":[{"name":"Dermatology Branch NCI Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Enk","sequence":"additional","affiliation":[{"name":"Dermatology Branch NCI Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"DiGiovanna","sequence":"additional","affiliation":[{"name":"Dermatology Branch NCI Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth H.","family":"Kraemer","sequence":"additional","affiliation":[{"name":"Dermatology Branch NCI Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1312088110"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2012.07.007"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700031"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2014.140"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh026"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.14348\/molcells.2014.2193"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21166"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0060478"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.12655","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.12655","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:43:29Z","timestamp":1695563009000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.12655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,23]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/exd.12655"],"URL":"https:\/\/doi.org\/10.1111\/exd.12655","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,23]]}}}