{"id":69496,"date":"2018-03-09T23:13:58","date_gmt":"2018-03-09T23:13:58","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-y-expresion-de-mutaciones-en-genes-especa%c2%adficos-de-retina-asociados-a-retinosis-pigmenta-ria-autosomica-dominante-rpad\/"},"modified":"2018-03-09T23:13:58","modified_gmt":"2018-03-09T23:13:58","slug":"caracterizacion-y-expresion-de-mutaciones-en-genes-especa%c2%adficos-de-retina-asociados-a-retinosis-pigmenta-ria-autosomica-dominante-rpad","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-y-expresion-de-mutaciones-en-genes-especa%c2%adficos-de-retina-asociados-a-retinosis-pigmenta-ria-autosomica-dominante-rpad\/","title":{"rendered":"Caracterizaci\u00f3n y expresi\u00f3n de mutaciones en genes espec\u00edficos de retina asociados a retinosis pigment\u00c1\u00a0ria autos\u00f3mica dominante (rpad)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Martinez Gimeno <\/strong><\/h2>\n<p>La retinosis pigment\u00ed\u00a0ria (rp) es una enfermedad hereditaria que provoca una degeneraci\u00f3n progresiva de la retina y en la mayor\u00eda de los casos conduce a la ceguera.  el trabajo realizado ha permitido clasificar gen\u00e9ticamente a los pacientes afectados de rp, atendiendo a su patr\u00f3n de herencia.  uno de los objetivos ha sido la determinaci\u00f3n del origen molecular de la rp en los casos de retinosis pigmentaria autos\u00f3mico dominante (rpad) en la poblaci\u00f3n espa\u00f1ola as\u00ed como en casos espor\u00e1dicos o aislados de rp (srp). as\u00ed, se ha realizado el estudio gen\u00e9tico directo de los genes de expresi\u00f3n espec\u00edfica de retina asociados a retinosis pigment\u00ed\u00a0ria autos\u00f3mica dominante (rho, rds-periferina, rom-1, rp1, nrl y crx) y la caracterizaci\u00f3n de las mutaciones detectadas. Se recogen tambi\u00e9n la expresi\u00f3n cl\u00ednica de las mutaciones descritas y, en los casos que ha sido posible, se ha procurado establecer una co-relci\u00f3n genotipo-fenotipo.  as\u00ed mismo, se han clonado los genes nrl y crx, factores de transcripci\u00f3n de genes espec\u00edficos de retina asociados a rpad. A partir del gen nrl clonado y, mediante mutag\u00e9nesis dirigida por pcr, se han obtenido in vitro dos mutaciones del gen nrl detectados en la poblaci\u00f3n estudiada. Estudios in vitro de expresi\u00f3n g\u00e9nica con estos mutantes muestran una regulaci\u00f3n diferencial del promotor del gen de la rodopsina con respecto a la prote\u00edna salvaje, produciendo una sobre expresi\u00f3n del gen regulado. Se postula que una sobre alteraci\u00f3n de la dosis g\u00e9nica puede ser un mecanismo patol\u00f3gico que desencadene la enfermedad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n y expresi\u00f3n de mutaciones en genes espec\u00edficos de retina asociados a retinosis pigment\u00c1\u00a0ria autos\u00f3mica dominante (rpad)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n y expresi\u00f3n de mutaciones en genes espec\u00edficos de retina asociados a retinosis pigment\u00c1\u00a0ria autos\u00f3mica dominante (rpad) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Martinez Gimeno <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/07\/2004<\/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>Jos\u00e9 Miguel Carballo Villarino<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: miquel Maseras bover <\/li>\n<li>montserrat Baiget bast\u00fas (vocal)<\/li>\n<li>Mar\u00eda  carmen Ayuso garcia (vocal)<\/li>\n<li>pere Garriga sol\u00e9 (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Martinez Gimeno La retinosis pigment\u00ed\u00a0ria (rp) es una enfermedad hereditaria que provoca una degeneraci\u00f3n progresiva de [&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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