{"id":105097,"date":"2018-03-11T10:28:27","date_gmt":"2018-03-11T10:28:27","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/study-of-genomic-variability-in-the-genetic-susceptibility-to-psychiatric-disorders-snps-cnvs-and-mirnas\/"},"modified":"2018-03-11T10:28:27","modified_gmt":"2018-03-11T10:28:27","slug":"study-of-genomic-variability-in-the-genetic-susceptibility-to-psychiatric-disorders-snps-cnvs-and-mirnas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/study-of-genomic-variability-in-the-genetic-susceptibility-to-psychiatric-disorders-snps-cnvs-and-mirnas\/","title":{"rendered":"Study of genomic variability in the genetic susceptibility to psychiatric disorders: snps, cnvs and mirnas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ester Saus Mart\u00ednez <\/strong><\/h2>\n<p>En la presente tesis se han estudiado elementos gen\u00e9ticos que podr\u00edan contribuir potencialmente en la fisiopatolog\u00eda de los trastornos psiqui\u00e1tricos, centr\u00e1ndonos en diferentes fuentes de variabilidad gen\u00f3mica humana, incluyendo snps y cnvs, los cuales pueden afectar no s\u00f3lo a genes codificantes sino tambi\u00e9n a elementos reguladores, como los mirnas. Primero, interrogamos diferentes genes candidatos para trastornos psiqui\u00e1tricos solapados con cnvs conocidos, encontrando que 14 genes eran variables en n\u00famero de copia en pacientes pero no en individuos controles. Despu\u00e9s, restringiendo el an\u00e1lisis a trastornos afectivos, exploramos el gen gsk3beta considerando snps as\u00ed como tambi\u00e9n un cnv que se solapa parcialmente con el gen. Encontramos la regi\u00f3n del promotor y del intr\u00f3n 1 del gen gsk3beta asociada de manera significativa con una menor edad de inicio del trastorno de depresi\u00f3n mayor. Finalmente, encontramos evidencias que posiblemente indiquen una precisa regulaci\u00f3n post-transcripcional de los ritmos circadianos por mirnas en pacientes con trastornos afectivos. Concretamente, una variante en la forma precursora del mir-182 podr\u00eda jugar un papel importante en la fina regulaci\u00f3n de sus genes diana implicados en el control de los ciclos de sue\u00f1o y vigilia. En general, hemos aportado evidencias de que diferentes tipos de variaci\u00f3n gen\u00f3mica en genes neuronales o regiones reguladoras como los mirnas podr\u00edan contribuir potencialmente en el desarrollo de trastornos psiqui\u00e1tricos.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Study of genomic variability in the genetic susceptibility to psychiatric disorders: snps, cnvs and mirnas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Study of genomic variability in the genetic susceptibility to psychiatric disorders: snps, cnvs and mirnas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ester Saus Mart\u00ednez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 24\/11\/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>M\u00f3nica Gratac\u00f3s Mayora<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: angel Mar\u00eda Carracedo alvarez <\/li>\n<li>julio SanJuan  arias (vocal)<\/li>\n<li>  (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ester Saus Mart\u00ednez En la presente tesis se han estudiado elementos gen\u00e9ticos que podr\u00edan contribuir potencialmente en [&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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