{"id":236,"date":"2019-12-10T09:02:05","date_gmt":"2019-12-10T08:02:05","guid":{"rendered":"https:\/\/www.iemest.eu\/liss\/?p=236"},"modified":"2021-01-13T09:27:59","modified_gmt":"2021-01-13T08:27:59","slug":"novel-genes-involved-in-etiopathogenesis-of-retinitis-pigmentosa-orphan-forms","status":"publish","type":"post","link":"https:\/\/www.iemest.eu\/life-safety-and-security\/2019\/12\/10\/novel-genes-involved-in-etiopathogenesis-of-retinitis-pigmentosa-orphan-forms\/","title":{"rendered":"Novel Genes Involved In Etiopathogenesis Of Retinitis Pigmentosa Orphan Forms"},"content":{"rendered":"\n

Luigi Donato, Rita Lauro, Concetta Scimone, Rosalia D\u2019Angelo, Alessandra Costa, Alessandro Calamuneri, Antonina Sidoti<\/p>\n\n\n\n

Abstract<\/strong><\/p>\n\n\n\n

Retinitis Pigmentosa is a rare genetic disease affecting the retina, characterized by the progressive degeneration of rods and cones photoreceptors. The disease is considered one of the main causes of visual impairment and blindness, affecting from 1\/9000 to 1\/750 people according to their geographical localization. More than 80 genes have been described as causative of Retinitis Pigmentosa, even if there are the so called \u201corphan forms\u201d showing the same phenotipic condition of RP patients, in the absence of mutations in the already known causative genes. Since RP is a very heterogeneous disorder, it is important to clarify the possible involvement of other genes and their eventual role in the etiopathogenesis of RP orphan forms.<\/p>\n\n\n\n

References<\/strong><\/p>\n\n\n\n

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    \n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\nMukhopadhyay S, Wen X, , Chih B, Nelson CD, Lane\nWS, Scales SJ, Jackson PK.TULP3 bridges the IFT-A complex and membrane\nphosphoinositides to promote trafficking of G protein-coupled receptors into\nprimary cilia. Genes & development 2010;24:2180-93. \n\n\n\n<\/p>\n","protected":false},"excerpt":{"rendered":"

    Luigi Donato, Rita Lauro, Concetta Scimone, Rosalia D\u2019Angelo, Alessandra Costa, Alessandro Calamuneri, Antonina Sidoti Abstract Retinitis Pigmentosa is a rare genetic disease affecting the retina,<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[20],"tags":[19,22,23,21],"class_list":["post-236","post","type-post","status-publish","format-standard","hentry","category-original-paper","tag-causative-genes","tag-eye","tag-retinal-degeneration","tag-retinitis-pigmentosa"],"_links":{"self":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/236","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/comments?post=236"}],"version-history":[{"count":1,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/236\/revisions"}],"predecessor-version":[{"id":239,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/236\/revisions\/239"}],"wp:attachment":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/media?parent=236"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/categories?post=236"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/tags?post=236"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}