{"id":56641,"date":"2018-03-09T22:44:25","date_gmt":"2018-03-09T22:44:25","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-y-celulares-de-la-telangiectasia-hemorragica-hereditaria\/"},"modified":"2018-03-09T22:44:25","modified_gmt":"2018-03-09T22:44:25","slug":"bases-moleculares-y-celulares-de-la-telangiectasia-hemorragica-hereditaria","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/bases-moleculares-y-celulares-de-la-telangiectasia-hemorragica-hereditaria\/","title":{"rendered":"Bases moleculares y celulares de la telangiectasia hemorr\u00e1gica hereditaria"},"content":{"rendered":"<h2>Tesis doctoral de <strong> \u00e1frica Fern\u00e1ndez L\u00f3pez <\/strong><\/h2>\n<p>La telangiectasia hemorr\u00e1gica hereditaria (hht) es una enfermedad vascular autos\u00f3mica dominante caracterizada por hemorragias espont\u00e1neas y recurrentes. Mutaciones en los genes que codifican para endoglina y alk1 son responsables de hht1 y hht2, respectivamente. Ambas prote\u00ednas son componentes del complejo receptor del tgf-beta, expresadas fundamentalmente en c\u00e9lulas endoteliales. Identificamos la mutaci\u00f3n responsable de la enfermedad en 35 familias, encontrando una preValencia de hht2 sobre hht1. A partir de sangre perif\u00e9rica de pacientes de hht, aislamos c\u00e9lulas endoteliales (boecs) y estudiamos sus alteraciones funcionales en relaci\u00f3n a c\u00e9lulas de individuos sanos. Las boecs de pacientes de hht, tanto hht1 como hht2, presentaban bajos niveles de endoglina y alk1, as\u00ed como una se\u00f1alizaci\u00f3n defectuosa de esta v\u00eda de tgf-beta. Como consecuencia, los niveles de alk5 disminuyen dando lugar a un defecto general de la se\u00f1alizaci\u00f3n de tgf-beta. La se\u00f1alizaci\u00f3n defectuosa de tgf-beta conducir\u00eda alteraciones en la expresi\u00f3n de un gran n\u00famero de genes diana, as\u00ed como en las funciones en las que \u00e9stos se encuentran implicados. As\u00ed, las boecs, de pacientes presenta alteraciones a nivel de adhesi\u00f3n, migraci\u00f3n , s\u00edntesis de matriz extracelular, organizaci\u00f3n del citoesqueleto, ciclo celular o fisiolog\u00eda vascular, dando lugar a un defecto general en angiog\u00e9nesis y una fragilidad de los capilares que explican la aparici\u00f3n de malformaciones vasculares. En este trabajo hemos identificado en detalle los mecanismos moleculares y celulares que conducen a las manifestaciones de la hht y describimos un modelo celular \u00fatil para el estudio de la enfermedad y la b\u00fasqueda de nuevas dianas terap\u00e9uticas.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Bases moleculares y celulares de la telangiectasia hemorr\u00e1gica hereditaria<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Bases moleculares y celulares de la telangiectasia hemorr\u00e1gica hereditaria <\/li>\n<li><strong>Autor:<\/strong>\u00a0 \u00e1frica Fern\u00e1ndez L\u00f3pez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 18\/01\/2007<\/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>Carmelo Bernabeu Quirante<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: manuel Guzm\u00e1n pastor <\/li>\n<li>eliecer Coto Garc\u00eda (vocal)<\/li>\n<li>Miguel Quintanilla avila (vocal)<\/li>\n<li>alicia Rodr\u00edguez barbero (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de \u00e1frica Fern\u00e1ndez L\u00f3pez La telangiectasia hemorr\u00e1gica hereditaria (hht) es una enfermedad vascular autos\u00f3mica dominante caracterizada por hemorragias [&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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