{"id":86479,"date":"2018-03-10T00:11:03","date_gmt":"2018-03-10T00:11:03","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-molecular-de-la-cistinuria-de-tipo-i\/"},"modified":"2018-03-10T00:11:03","modified_gmt":"2018-03-10T00:11:03","slug":"genetica-molecular-de-la-cistinuria-de-tipo-i","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/genetica-molecular-de-la-cistinuria-de-tipo-i\/","title":{"rendered":"Genetica molecular de la cistinuria de tipo i."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jes\u00fas Purroy Vazquez <\/strong><\/h2>\n<p>La cistinuria es una enfermedad hereditaria debida al transporte defectuoso de cistina y aminoacidos dibasicos en el tubulo renal. Es una enfermedad geneticamente heterogenea en la que hasta ahora se han visto implicados dos genes:slc3a1 (en el tipoi) y slc 7a9 (en el tipo noi). Slc3a1 esta dividido en 10 exones a lo largo de 45 kb en 2p16.3. Se han descrito diversos sitios de union a factores de transcripcion pero no se conoce el papel que puedan tener en la regulacion del gen. Hemos puesto a punto un metodo de deteccion de grandes deleciones mediante por multiplex cuantitativa, gracias al cual hemos detectado una delecion que incluye el exon 10 y una que incluye los exones 2 al 10- hemos detectado entre un 71% y un 54% de mutaciones en alelos de tipo i en nuestra poblacion. Hemos clonado una construccion que ha de servir para la construccion de un raton knock out para los exones 2 y 3 de slc3a1, lo que dara lugar a una proteina truncada. hemos caracterizado la proteina ascat, codificada por slc7a10, y hemos visto que transporta aminoacidos neutros peque\u00f1os seg\u00fan se ha descrito para el sistema asc.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Genetica molecular de la cistinuria de tipo i.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Genetica molecular de la cistinuria de tipo i. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jes\u00fas Purroy Vazquez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/09\/2000<\/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>Virginia Nunes Mart\u00ednez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Egozcue cuixart <\/li>\n<li>pia Gallano petit (vocal)<\/li>\n<li>merc\u00e9 P\u00e9rez riba (vocal)<\/li>\n<li>joan Bertran comulada (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jes\u00fas Purroy Vazquez La cistinuria es una enfermedad hereditaria debida al transporte defectuoso de cistina y aminoacidos [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[951,212,35,2820],"tags":[181513,123625,1331,34029,48618,29144],"class_list":["post-86479","post","type-post","status-publish","format-standard","hentry","category-barcelona","category-biologia-humana","category-ciencias-de-la-vida","category-genetica-humana","tag-jesus-purroy-vazquez","tag-joan-bertran-comulada","tag-jose-egozcue-cuixart","tag-merce-perez-riba","tag-pia-gallano-petit","tag-virginia-nunes-Martinez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/86479","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=86479"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/86479\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=86479"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=86479"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=86479"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}