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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2019,1,22]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Due to its severity and early onset, X-linked retinitis pigmentosa (XLRP) is a particularly devastating form of retinal degeneration. Most males with XLRP come to medical attention before the age of 20. Approximately 15% of all RP is X-linked, and more than 70% of these cases are caused by mutations in the\n                    <jats:italic>RPGR<\/jats:italic>\n                    gene. Currently, there is no known assay to evaluate the nature of RPGR missense variants functionally. In this study, we developed an in vitro assay to examine how different missense variations in\n                    <jats:italic>RPGR<\/jats:italic>\n                    cause XLRP. Our assay is based on the RPGR protein interaction network. Our method provides a cost-effective test for RPGR functional mutation analysis.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1817639116","type":"journal-article","created":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T16:34:30Z","timestamp":1546965270000},"page":"1353-1360","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":48,"title":["Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP"],"prefix":"10.1073","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4872-6412","authenticated-orcid":false,"given":"Qihong","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Iowa, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph C.","family":"Giacalone","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Searby","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242;"},{"name":"Institute for Vision Research, University of Iowa, Iowa City, IA 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2178-1742","authenticated-orcid":false,"given":"Budd A.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242;"},{"name":"Institute for Vision Research, University of Iowa, Iowa City, IA 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6282-0835","authenticated-orcid":false,"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa, Iowa City, IA 52242;"},{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242;"},{"name":"Institute for Vision Research, University of Iowa, Iowa City, IA 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2019,1,8]]},"reference":[{"key":"e_1_3_3_1_2","volume-title":"GeneReviews","author":"Fahim AT","year":"1993","unstructured":"AT Fahim, SP Daiger, RG Weleber, Nonsyndromic retinitis pigmentosa overview. 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