{"id":94008,"date":"2018-03-11T10:13:37","date_gmt":"2018-03-11T10:13:37","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-clinico-genetica-del-pseudohipoparatiroidismo-estudio-del-locus-gnas\/"},"modified":"2018-03-11T10:13:37","modified_gmt":"2018-03-11T10:13:37","slug":"caracterizacion-clinico-genetica-del-pseudohipoparatiroidismo-estudio-del-locus-gnas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica\/caracterizacion-clinico-genetica-del-pseudohipoparatiroidismo-estudio-del-locus-gnas\/","title":{"rendered":"Caracterizacion clinico genetica del pseudohipoparatiroidismo: estudio del locus gnas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Eduardo Fernandez Rebollo <\/strong><\/h2>\n<p>El pseudohipoparatiroidismo (php) comprende un grupo heterog\u00e9neo de enfermedades endocrinas caracterizadas por una resistencia tisular a la paratohormona (pth), y como consecuencia un cuadro similar al hipoparatiroidismo con hipocalcemia e hiperfosfatemia. Se distinguen dos formas cl\u00ednicas: tipo i (php-i) y tipo ii (php-ii), en funci\u00f3n a la respuesta del ampc urinario tras la administraci\u00f3n ex\u00f3gena de pth: en pacientes con php-i no hay respuesta, mientras que en php-ii la respuesta es equivalente a la de un individuo normal. El php-i se subdivide seg\u00fan la presencia o ausencia de anomal\u00edas endocrinas adicionales, actividad reducida de la subunidad alfa de la prote\u00edna g estimuladora (gs\u00c2\u00bf) y caracter\u00edsticas dism\u00f3rficas de osteodistrofia hereditaria de albright (aho). la prote\u00edna gs\u00c2\u00bf est\u00e1 codificada por el gen gnas (20q13.32). Este locus es uno de los m\u00e1s complejos del genoma pues presenta m\u00faltiples productos g\u00e9nicos mediante el uso de 4 promotores alternativos que act\u00faan como primer ex\u00f3n uni\u00e9ndose al ex\u00f3n com\u00fan 2 (nesp55, xl\u00c2\u00bfs, a\/b y gs\u00c2\u00bf), que est\u00e1n diferencialmente improntados, y adem\u00e1s presenta un transcrito antisentido nespas.  pacientes con aho y resistencia a pth, tsh y otras hormonas son diagnosticados como php-ia, y pacientes con fenotipo aho pero sin resistencia a la pth son diagnosticados como pseudopseudohipoparatiroidismo (p-php). Asociadas a estas patolog\u00edas se han identificado mutaciones heterocigotas inactivantes en gnas, de origen materno (incluyendo mutaciones en el inicio de la transcripci\u00f3n, sustituci\u00f3n de amino\u00e1cidos, mutaciones sin sentido, mutaciones en el lugar de empalme alternativo y peque\u00f1as deleciones o inserciones). mientras que pacientes con resistencia aislada a la pth, sin aho son referidos como php-ib. En este caso se han identificado alteraciones en el patr\u00f3n de la metilaci\u00f3n de los promotores del locus gnas, que en algunos casos se asocian con microdeleciones, transmitidas por la madre, en la regi\u00f3n stx16 situada a 220kb aguas arriba. el objetivo principal de esta tesis es caracterizar cl\u00ednica, gen\u00e9tica y bioqu\u00edmicamente a los pacientes con pseudohipoparatiroidismo tipo i y pseudopseudohipoparatiroidismo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizacion clinico genetica del pseudohipoparatiroidismo: estudio del locus gnas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizacion clinico genetica del pseudohipoparatiroidismo: estudio del locus gnas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Eduardo Fernandez Rebollo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 15\/06\/2009<\/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>Guiomar Perez De Nanclares Leal<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Antonio Vazquez garcia <\/li>\n<li>Juan  Jos\u00e9 Teller\u00eda orriols (vocal)<\/li>\n<li>feliciano Jes\u00fas Ramos fuentes (vocal)<\/li>\n<li>Francisco Martinez castellano (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Eduardo Fernandez Rebollo El pseudohipoparatiroidismo (php) comprende un grupo heterog\u00e9neo de enfermedades endocrinas caracterizadas por una resistencia [&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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