{"id":58315,"date":"2007-04-05T00:00:00","date_gmt":"2007-04-05T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/molecular-basis-of-deafness-linked-to-mitochondrial-dna-mutations\/"},"modified":"2007-04-05T00:00:00","modified_gmt":"2007-04-05T00:00:00","slug":"molecular-basis-of-deafness-linked-to-mitochondrial-dna-mutations","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/molecular-basis-of-deafness-linked-to-mitochondrial-dna-mutations\/","title":{"rendered":"Molecular basis of deafness linked to mitochondrial dna mutations"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ester Ballana Guix <\/strong><\/h2>\n<p>Las mutaciones en el dna mitocondrial son una causa frecuente de sordera. El cribaje mutacional del gen del 12s rrna mitocondrial en familias afectas de sordera, ha permitido la identificaci\u00f3n de dos nuevas variantes, t1291c y t1243c, y 69 casos de la mutaci\u00f3n a1555g, todos ellos presentando una gran variabilidad fenot\u00edpica. Se han detectado defectos en la fisiolog\u00eda coclear, tanto en portadores sordos como en portadores oientes de la mutaci\u00f3n a1555g. La mutaci\u00f3n a1555g es, entonces, el factor primario que condiciona el desarrollo de la sordera, pero es necessaria la presencia de defectos addicionales en otros genes mitocondriales y\/o nucleares para desarrollar la patolog\u00eda. La b\u00fasqueda de factores modificadores del fenotipo associado a la mutaci\u00f3n a1555g, se ha centrado en el estudio de la heteroplasmia mitocondrial y en distintas caracter\u00edsticas gen\u00e9ticas del cromosoma 8p23.1. La caracterizaci\u00f3n de una variante en n\u00famero de copias en el cromosoma 8p23.1 ha permitido la identificaci\u00f3n de diferencias importantes entre poblaciones humanas.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Molecular basis of deafness linked to mitochondrial dna mutations<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Molecular basis of deafness linked to mitochondrial dna mutations <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ester Ballana Guix <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/05\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: julio Montoya villarroya <\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<li>paolo Gasparini (vocal)<\/li>\n<li>marc Pellicer sarasa (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ester Ballana Guix Las mutaciones en el dna mitocondrial son una causa frecuente de sordera. El cribaje [&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":[35,962,11771,2820,18712],"tags":[63896,128865,28639,14103,128866,29141],"class_list":["post-58315","post","type-post","status-publish","format-standard","hentry","category-ciencias-de-la-vida","category-genetica","category-genetica-clinica","category-genetica-humana","category-pompeu-fabra","tag-antoni-lluis-andreu-periz","tag-ester-ballana-guix","tag-julio-montoya-villarroya","tag-marc-pellicer-sarasa","tag-paolo-gasparini","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/58315","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=58315"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/58315\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=58315"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=58315"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=58315"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}