{"id":28891,"date":"2018-03-09T09:21:46","date_gmt":"2018-03-09T09:21:46","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-experimental-de-la-expresion-del-gen-lis1-en-el-desarrollo-cortical-del-encefalo-de-mamiferos\/"},"modified":"2018-03-09T09:21:46","modified_gmt":"2018-03-09T09:21:46","slug":"analisis-experimental-de-la-expresion-del-gen-lis1-en-el-desarrollo-cortical-del-encefalo-de-mamiferos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/murcia\/analisis-experimental-de-la-expresion-del-gen-lis1-en-el-desarrollo-cortical-del-encefalo-de-mamiferos\/","title":{"rendered":"Analisis experimental de la expresi\u00f3n del gen lis1 en el desarrollo cortical del encefalo de mamiferos"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Escamez Martinez M. Teresa <\/strong><\/h2>\n<p>El gen lis1 causa, cuando est\u00e1 mutado, una alteraci\u00f3n cerebral conocida como lisencefalia. En humanos, est\u00e1 alteraci\u00f3n va asociada al s\u00edndrome de miller-dieker, que es una grave malformaci\u00f3n cortical, caracterizada por una superficie cerebral lisa (agiria), o con pocas circunvoluciones (paquigiria). La corteza cerebral de estos enfermos est\u00e1 engrosada y formada por cuatro capas de seis. Algunos de los rasgos cl\u00ednicos que definen esta enfermedad son microcefalia, epilepsia, retraso mental y psicomotor, as\u00ed como malformaciones cardiacas, renales, etc. El mecanismo subyacente a esta enfermedad es un defecto en la migraci\u00f3n causado por la haploisuficiencia del gen li31, que es la subunidad reguladora del enzima paf-ah, que inactiva al factor de activaci\u00f3n plaquetario (paf). En esta tesis se presenta el an\u00e1lisis del patr\u00f3n de expresi\u00f3n del gen lis1 durante el desarrollo cortical del enc\u00e9falo de rat\u00f3n, compar\u00e1ndola con la de alfa1, gen que codifica la subunidad catal\u00edtica de paf-ah. Se demuestra su expresi\u00f3n durante la formaci\u00f3n de la corteza cerebral.  se ha caracterizado un rat\u00f3n mutante deficiente en lis1, que es heterocig\u00f3tico. el alelo mutante produce una prote\u00edna truncada, slis1. Este animal muestra retraso y en la morfolog\u00eda neuronal. Este fenotipo se debe a la alteraci\u00f3n en la funci\u00f3n de paf-ah debido a la competencia entre la prote\u00edna silvestre y la truncada. Adem\u00e1s, queda patente que este animal se puede utilizar como modelo de estudio de los procesos fisiopatol\u00f3gicos que se dan en la lisencefalia y en las alteraciones relacionadas con defectos en la migraci\u00f3n neuronal.  adem\u00e1s, se presenta el estudio estructural de la corteza cerebral lisencef\u00e1lico, que muestra alteraciones comparables a las observadas en el rat\u00f3n mutante. se demuestra tambi\u00e9n, que la alteraci\u00f3n de los genes lis1, alfa1 y pafr est\u00e1 relacionada con enfermedades causadas por defectos en la migraci\u00f3n de dif\u00edcil diagn\u00f3stico gen\u00e9ti<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisis experimental de la expresi\u00f3n del gen lis1 en el desarrollo cortical del encefalo de mamiferos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisis experimental de la expresi\u00f3n del gen lis1 en el desarrollo cortical del encefalo de mamiferos <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Escamez Martinez M. Teresa <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Murcia<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/02\/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>Salvador Mart\u00ednez P\u00e9rez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Luis Puelles lopez <\/li>\n<li>Emilio Geijo barrientos (vocal)<\/li>\n<li> De felipe ortega Javier (vocal)<\/li>\n<li>trinidad Rodriguez costa (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Escamez Martinez M. Teresa El gen lis1 causa, cuando est\u00e1 mutado, una alteraci\u00f3n cerebral conocida como lisencefalia. [&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":[8235],"tags":[82020,33129,82019,1823,33125,82021],"class_list":["post-28891","post","type-post","status-publish","format-standard","hentry","category-murcia","tag-de-felipe-ortega-javier","tag-emilio-geijo-barrientos","tag-escamez-Martinez-m-teresa","tag-luis-puelles-lopez","tag-salvador-Martinez-perez","tag-trinidad-rodriguez-costa"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/28891","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=28891"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/28891\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=28891"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=28891"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=28891"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}