{"id":98828,"date":"2018-03-11T10:19:44","date_gmt":"2018-03-11T10:19:44","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/relaciones-genotipo-fenotipo-en-la%c2%adneas-celulares-de-melanoma-humano\/"},"modified":"2018-03-11T10:19:44","modified_gmt":"2018-03-11T10:19:44","slug":"relaciones-genotipo-fenotipo-en-la%c2%adneas-celulares-de-melanoma-humano","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/relaciones-genotipo-fenotipo-en-la%c2%adneas-celulares-de-melanoma-humano\/","title":{"rendered":"Relaciones genotipo-fenotipo en l\u00edneas celulares de melanoma humano"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Mar\u00eda Del Carmen Turp\u00edn  Sevilla <\/strong><\/h2>\n<p>El melanoma maligno (mm) en uno de los tipos de c\u00e1ncer de m\u00e1s r\u00e1pido crecimiento, con una incidencia que se ha triplicado en los \u00faltimos 40 a\u00f1os. En consecuencia, las mutaciones gen\u00e9ticas asociadas al mm han sido muy estudiadas. Los mm son genot\u00edpica y fenot\u00edpicamente muy heterog\u00e9neos. En mm familiares, los genes m\u00e1s frecuentemente mutados son el cdkn2a, el cdk4 y el mc1r. El gen mc1r es de menor penetrancia, pero tiene un fuerte efecto modificador del riesgo, sobre todo en relaci\u00f3n con mutaciones en cdkn2a. Los alelos mc1r asociados a mm coinciden con las formas con p\u00e9rdida de funci\u00f3n que se asocian a los fototipos m\u00e1s fotosensibles. En el mm espor\u00e1dico, las mutaciones m\u00e1s frecuentes son las que afectan a la v\u00eda de las erk, y en particular a b-raf y en nras. Estas mutaciones aparecen en aproximadamente el 90% de los mm. Tambi\u00e9n existe una relaci\u00f3n entre el estado del gen mc1r y las mutaciones en la v\u00eda de las erk ya que un fondo gen\u00e9tico mutante en mc1r predispone a las mutaciones en b-raf. En este contexto, nos proponemos los siguientes objetivos: 1) caracterizaci\u00f3n gen\u00e9tica de un panel de l\u00edneas celulares de mm humano, en cuanto a la presencia de mutaciones en nras, b-raf y mc1r 2) caracterizaci\u00f3n fenot\u00edpica del panel de l\u00edneas celulares, con especial referencia a:  -contenido en melaninas y actividad tirosinasa -nivel de expresi\u00f3n del receptor mc1r -respuesta a la hormona msh a trav\u00e9s de la v\u00eda de se\u00f1alizaci\u00f3n del ampc -grado de se\u00f1alizaci\u00f3n basal por las v\u00edas de las erk y de p38 -respuesta a la<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Relaciones genotipo-fenotipo en l\u00edneas celulares de melanoma humano<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Relaciones genotipo-fenotipo en l\u00edneas celulares de melanoma humano <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Mar\u00eda Del Carmen Turp\u00edn  Sevilla <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Murcia<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/01\/2010<\/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>borr\u00f3n Mart\u00ednez Garc\u00eda<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Antonio Lozano teruel <\/li>\n<li>pablo Conesa zamora (vocal)<\/li>\n<li>guillermo Glover lopez (vocal)<\/li>\n<li>Jes\u00fas Manuel Sanchez mas (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Mar\u00eda Del Carmen Turp\u00edn Sevilla El melanoma maligno (mm) en uno de los tipos de c\u00e1ncer 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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