{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:37:18Z","timestamp":1707525438472},"reference-count":22,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,8]]},"DOI":"10.7759\/cureus.48489","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T10:42:05Z","timestamp":1699440125000},"source":"Crossref","is-referenced-by-count":0,"title":["A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report"],"prefix":"10.7759","author":[{"given":"Armando J","family":"Ruiz-Justiz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo J","family":"Molina Thurin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Retinitis pigmentosa","author":"O\u2019Neal TB","year":"2023","unstructured":"O\u2019Neal TB, Luther EE. Retinitis pigmentosa. StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2023."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S365486","article-title":"Retinitis pigmentosa: burden of disease and current unmet needs","volume":"16","author":"Cross N","year":"2022","unstructured":"Cross N, van Steen C, Zegaoui Y, Satherley A, Angelillo L. Retinitis pigmentosa: burden of disease and current unmet needs. Clin Ophthalmol. 2022, 16:1993-2010. 10.2147\/OPTH.S365486","journal-title":"Clin Ophthalmol"},{"key":"ref3","article-title":"Retinitis pigmentosa and allied disorders","author":"Gregory-Evans K","year":"2013","unstructured":"Gregory-Evans K, Pennesi ME, Weleber RG. Retinitis pigmentosa and allied disorders. Retina (Fifth Edition). Ryan SJ, Sadda SR, Hinton DR (ed): W.B. Saunders, London, UK; 2013. 761-835."},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.3390\/genes13081490","article-title":"Inherited retinal dystrophy in Southeastern United States: characterization of South Carolina patients and comparative literature review","volume":"13","author":"Griffith J 3rd","year":"2022","unstructured":"Griffith J 3rd, Sioufi K, Wilbanks L, et al.. Inherited retinal dystrophy in Southeastern United States: characterization of South Carolina patients and comparative literature review. Genes (Basel). 2022, 13:1490. 10.3390\/genes13081490","journal-title":"Genes (Basel)"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/gm155","article-title":"Retinitis pigmentosa and allied conditions today: a paradigm of translational research","volume":"2","author":"Ayuso C","year":"2010","unstructured":"Ayuso C, Millan JM. Retinitis pigmentosa and allied conditions today: a paradigm of translational research. Genome Med. 2010, 2:34. 10.1186\/gm155","journal-title":"Genome Med"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel SK","year":"2018","unstructured":"Verbakel SK, van Huet RA, Boon CJ, et al.. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018, 66:157-86. 10.1016\/j.preteyeres.2018.03.005","journal-title":"Prog Retin Eye Res"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12203","article-title":"Genes and mutations causing retinitis pigmentosa","volume":"84","author":"Daiger SP","year":"2013","unstructured":"Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013, 84:132-41. 10.1111\/cge.12203","journal-title":"Clin Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-40","article-title":"Retinitis pigmentosa","volume":"1","author":"Hamel C","year":"2006","unstructured":"Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006, 1:40. 10.1186\/1750-1172-1-40","journal-title":"Orphanet J Rare Dis"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795860107","article-title":"Retinitis pigmentosa: genes and disease mechanisms","volume":"12","author":"Parmeggiani F","year":"2011","unstructured":"Parmeggiani F, Sorrentino FS, Ponzin D, Barbaro V, Ferrari S, Di Iorio E. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics. 2011, 12:238-49. 10.2174\/138920211795860107","journal-title":"Curr Genomics"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-21341","article-title":"A novel dominant mutation in SAG, the Arrestin-1 Gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States","volume":"58","author":"Sullivan LS","year":"2017","unstructured":"Sullivan LS, Bowne SJ, Koboldt DC, et al.. A novel dominant mutation in SAG, the Arrestin-1 Gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States. Invest Ophthalmol Vis Sci. 2017, 58:2774-84. 10.1167\/iovs.16-21341","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/srep32792","article-title":"Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands","volume":"6","author":"Zhang Q","year":"2016","unstructured":"Zhang Q, Xu M, Verriotto JD, et al.. Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep. 2016, 6:32792. 10.1038\/srep32792","journal-title":"Sci Rep"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21334","article-title":"Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa","volume":"31","author":"Barrag\u00e1n I","year":"2010","unstructured":"Barrag\u00e1n I, Borrego S, Pieras JI, et al.. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010, 31:E1772-800. 10.1002\/humu.21334","journal-title":"Hum Mutat"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-34380-0","article-title":"Relative frequency of inherited retinal dystrophies in Brazil","volume":"8","author":"Motta FL","year":"2018","unstructured":"Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JM. Relative frequency of inherited retinal dystrophies in Brazil. Sci Rep. 2018, 8:15939. 10.1038\/s41598-018-34380-0","journal-title":"Sci Rep"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S375365","article-title":"Retinitis pigmentosa in the Puerto Rican population: a geographic distribution","volume":"16","author":"Santos DF","year":"2022","unstructured":"Santos DF, Molina Thurin LJ, Vargas JG, Izquierdo NJ, Oliver A. Retinitis pigmentosa in the Puerto Rican population: a geographic distribution. Clin Ophthalmol. 2022, 16:3175-9. 10.2147\/OPTH.S375365","journal-title":"Clin Ophthalmol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.008","article-title":"A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa","volume":"88","author":"Tanackovic G","year":"2011","unstructured":"Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C. A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2011, 88:643-9. 10.1016\/j.ajhg.2011.04.008","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr094","article-title":"PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa","volume":"20","author":"Tanackovic G","year":"2011","unstructured":"Tanackovic G, Ransijn A, Thibault P, et al.. PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet. 2011, 20:2116-30. 10.1093\/hmg\/ddr094","journal-title":"Hum Mol Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1261\/rna.55406","article-title":"The network of protein-protein interactions within the human U4\/U6.U5 tri-snRNP","volume":"12","author":"Liu S","year":"2006","unstructured":"Liu S, Rauhut R, Vornlocher HP, L\u00fchrmann R. The network of protein-protein interactions within the human U4\/U6.U5 tri-snRNP. RNA. 2006, 12:1418-30. 10.1261\/rna.55406","journal-title":"RNA"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s13205-017-0878-3","article-title":"Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario","volume":"7","author":"Ali MU","year":"2017","unstructured":"Ali MU, Rahman MS, Cao J, Yuan PX. Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech. 2017, 7:251. 10.1007\/s13205-017-0878-3","journal-title":"3 Biotech"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent WJ","year":"2002","unstructured":"Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res. 2002, 12:996-1006. 10.1101\/gr.229102","journal-title":"Genome Res"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1072","article-title":"The UCSC Genome Browser database: 2023 update","volume":"51","author":"Nassar LR","year":"2023","unstructured":"Nassar LR, Barber GP, Benet-Pag\u00e8s A, et al.. The UCSC Genome Browser database: 2023 update. Nucleic Acids Res. 2023, 51:D1188-95. 10.1093\/nar\/gkac1072","journal-title":"Nucleic Acids Res"},{"key":"ref21","article-title":"Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31","volume":"14","author":"Wilkie SE","year":"2008","unstructured":"Wilkie SE, Vaclavik V, Wu H, et al.. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis. 2008, 14:683-90.","journal-title":"Mol Vis"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_2916_20","article-title":"Cataract surgery in retinitis pigmentosa","volume":"69","author":"Chatterjee S","year":"2021","unstructured":"Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A. Cataract surgery in retinitis pigmentosa. Indian J Ophthalmol. 2021, 69:1753-7. 10.4103\/ijo.IJO_2916_20","journal-title":"Indian J Ophthalmol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/186532-a-new-variant-in-the-prpf6-gene-leading-to-retinitis-pigmentosa-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:10:14Z","timestamp":1707509414000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/186532-a-new-variant-in-the-prpf6-gene-leading-to-retinitis-pigmentosa-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,8]]},"references-count":22,"URL":"https:\/\/doi.org\/10.7759\/cureus.48489","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11,8]]}}}