{"id":16949,"date":"2018-03-09T09:04:47","date_gmt":"2018-03-09T09:04:47","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetica-i-molecular-de-distrofies-retinianes-autosomiques-recessives\/"},"modified":"2018-03-09T09:04:47","modified_gmt":"2018-03-09T09:04:47","slug":"analisis-genetica-i-molecular-de-distrofies-retinianes-autosomiques-recessives","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisis-genetica-i-molecular-de-distrofies-retinianes-autosomiques-recessives\/","title":{"rendered":"An\u00e1lisis gen\u00e9tica i molecular de distr\u00f3fies retinianes autos\u00f3miques recessives"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Eva Paloma Aparici <\/strong><\/h2>\n<p>Las distrofias reinianas son patolog\u00edas de la retina cuya causa reside en defectos en las c\u00e9lulas foto-receptoras y el epitelio pigmentario de dicha retina, algunas de ellas afectan la regi\u00f3n central inicialmente (distrofias de afectaci\u00f3n macular) y otras afectan la regi\u00f3n m\u00e1s perif\u00e9rica de la retina (distr\u00f3fias de afectaci\u00f3n inicialmente perif\u00e9rica de la retina).  el gen abca4 codifica para una prote\u00edna llamada abcr, responsable del transporte de derivados del \u00e1cido retineico del interior de las membranas discales del fotoreceptor, al exterior del disco con gasto de atp.  este gen se ha encontrado mutado en distintas patolog\u00edas de la retina como retinosis pigmentaria, distrofia de conos y bastones, enfermedad de star-gardt, fundus flavimaculatus y puede ser un factor gen\u00e9tico de riesgo para la degeneraci\u00f3n macular asociada a la edat. Hemos postulado un modelo de correlaci\u00f3n genotipo-fenotipo para este gen, donde la severidad del fenotipo se correlaciona con la actividad residual del abcr adem\u00e1s de demostrar heterogenetidad gen\u00e9tica descrita para la retinosis pigmentaria donde nuevos genes descritos pueden ser responsables de la enfermedad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis gen\u00e9tica i molecular de distr\u00f3fies retinianes autos\u00f3miques recessives<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis gen\u00e9tica i molecular de distr\u00f3fies retinianes autos\u00f3miques recessives <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Eva Paloma Aparici <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/05\/2002<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Roser Gonzalez Duarte<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: daniel Grinberg vaisman <\/li>\n<li>Jos\u00e9 Mar\u00eda Mill\u00e1n salvador (vocal)<\/li>\n<li>ricardo pedro Casaroli marano (vocal)<\/li>\n<li>roman Blasco velasco (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Eva Paloma Aparici Las distrofias reinianas son patolog\u00edas de la retina cuya causa reside en defectos en [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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