{"id":72019,"date":"2018-03-09T23:16:46","date_gmt":"2018-03-09T23:16:46","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/genetica-y-biologa%c2%ada-molecular-de-la-anemia-de-fanconi\/"},"modified":"2018-03-09T23:16:46","modified_gmt":"2018-03-09T23:16:46","slug":"genetica-y-biologa%c2%ada-molecular-de-la-anemia-de-fanconi","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/genetica-y-biologa%c2%ada-molecular-de-la-anemia-de-fanconi\/","title":{"rendered":"Gen\u00e9tica y biolog\u00eda molecular de la anemia de fanconi"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Elsa Call\u00e9n Mor\u00e9u <\/strong><\/h2>\n<p>La anemia de fanconi (fa) es un desorden gen\u00e9tico de naturaleza autos\u00f3mica recesiva y caracterizado por una seri de malformaciones cong\u00e9nitas, fallo de m\u00e9dula \u00f3sea y una elevada predisposici\u00f3n a adquirir tumores s\u00f3lidos y leucemia mieloide aguda. Las c\u00e9lulas fa, poseen una elevada inestabilidad cromos\u00f3mica tanto espont\u00e1nea  como inducida por agents inductors de enlaces cruzados.  otros rasgos celulares son la sensibilidad frente al da\u00f1o oxidativo, fallos en el ciclo cellular, niveles elevados de apoptosis regulaci\u00f3n deficiente de la transcripci\u00f3n y disfunci\u00f3n telom\u00e9rica.  hasta el momento, se ha descrito que existen 12 genes diferentes que pueden causar esta enfermedad, aunque no todos ellos han sido clonados y caracterizados. de entre ellos, fanca es el que m\u00e1s frecuentemente se halla mutado entre la poblaci\u00f3n y presenta un amplio espectro de mutaciones, siendo las grandes deleciones una de las principales.  un conocimiento m\u00e1s profundo de la biolog\u00eda de esta enfermedad nos va a permitir adquirir una visi\u00f3n m\u00e1s global de la reparaci\u00f3n del ada\u00f1o en el dna en respuesta a determinados agentes as\u00ed como un mejor entendimiento de las interacciones moleculares que se establecen entre distintos s\u00edndromes gen\u00e9ticos y que tienen un indiscutible valor diagn\u00f3stico y terap\u00e9utico.  en este trabajo de tesis se han planteado cuatro objetivos principales y generales, que son:  * establecer potenciales relaciones entre las caracter\u00edstics hematol\u00f3gicas de la enfermedad y algunas caracter\u00edsticas celulares tales como el acortamiento telom\u00e9rico y las anomal\u00edas cromos\u00f3micas num\u00e9ricas o estructurales.  * caracterizar gen\u00e9ticamente a la poblaci\u00f3n afectada por la anemia de fanconi espa\u00f1ola.  * explorar el papel de la ruta fa en la biolog\u00eda y el matenimiento telom\u00e9rico.  * estudiar la biolog\u00eda molecular de la ruta fa en respuesta al da\u00f1o gen\u00f3mico.  con los estudios llevados a cabo, se ha observado un acortamiento<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Gen\u00e9tica y biolog\u00eda molecular de la anemia de fanconi<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Gen\u00e9tica y biolog\u00eda molecular de la anemia de fanconi <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Elsa Call\u00e9n Mor\u00e9u <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/12\/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>Jordi Surralles Calonge<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: oriol Cabre fabre <\/li>\n<li>Jos\u00e9 Carlos Segovia sanz (vocal)<\/li>\n<li>Carlos Pipa\u00f3n gonz\u00e1lez (vocal)<\/li>\n<li>sonia Franco n\u00fa\u00f1ez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Elsa Call\u00e9n Mor\u00e9u La anemia de fanconi (fa) es un desorden gen\u00e9tico de naturaleza autos\u00f3mica recesiva y [&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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