{"id":53422,"date":"2018-03-09T22:41:04","date_gmt":"2018-03-09T22:41:04","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/polycystic-kidney-disease-pkd-from-the-genetic-test-through-in-vivo-and-in-vitro-analysis-and-back-o-human\/"},"modified":"2018-03-09T22:41:04","modified_gmt":"2018-03-09T22:41:04","slug":"polycystic-kidney-disease-pkd-from-the-genetic-test-through-in-vivo-and-in-vitro-analysis-and-back-o-human","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/nefrologia\/polycystic-kidney-disease-pkd-from-the-genetic-test-through-in-vivo-and-in-vitro-analysis-and-back-o-human\/","title":{"rendered":"Polycystic kidney disease (pkd). from the genetic test, through in vivo and in vitro analysis and back o human"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Angel Garc\u00eda Gonz\u00e1lez <\/strong><\/h2>\n<p>El objeto de estudio de esta tesis son dos enfermedades qu\u00edsticas renales hereditarias. Poliquistosis renal autos\u00f3mica dominante, siglas en ingl\u00e9s adpkd (autosomal dominant polycystic kidney disease). En ambas se ha establecido la existencia de un componente gen\u00e9tico, sin embargo, el estudio molecular se encuentra en diferentes fases en cada una de ellas. Mientras en adpkd se conocen los genes implicados, su ubicaci\u00f3n y anatom\u00eda molecular, arpkd todav\u00eda se encuentra en la primera fase de estudio ya que s\u00f3lo recientemente se ha localizado el gen responsable de la enfermedad. en esta tesis se ha establecido una estrategia racional de b\u00fasqueda de mutaciones en los genes responsables de la poliquistosis renal y su aplicaci\u00f3n en el desarrollo de un test cl\u00ednico\/gen\u00e9tico de la enfermedad. En colaboraci\u00f3n con athena diagnostics, inc; dicha estrategia ha sido testada en 82 familias con poliquistosis renal con un excelente porcentaje de detecci\u00f3n del 83%. Meticulosamente, se ha examinado la predicci\u00f3n patog\u00e9nica de las sustituciones aminoac\u00eddicas y alteraciones en el lugar de expansi\u00f3n (splice site) para cada probando. Una fracci\u00f3n sustancial de variantes encontradas en el gen pkd1 tambi\u00e9n se ha encontrado en sus genes hom\u00f3logos, posiblemente debido a una conversi\u00f3n g\u00e9nica entre ellos. Evidencias experimentales de esta tesis dan soporte a la idea de que pkd1 es un gen altamente mutable. se ha observado la existencia de individuos con una gran cantidad de sustituciones aminoac\u00eddicas, mientras que otros s\u00f3lo poseen una peque\u00f1a cantidad, sugiriendo que ciertos haptotipos podr\u00edan ser m\u00e1s mutables que otros. Tambi\u00e9n, dichos resultados remarcan la precauci\u00f3n que se de tomar, desde un punto de vista cl\u00ednico, a la hora de distinguir entre una variante con sentido perdido (missense) pero dentro de la normalidad y aquellas que son probables de causar la enfermedad. Se ha identificado un n\u00famero de individuos con m\u00faltiples cambios pero sin que ninguno<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Polycystic kidney disease (pkd). from the genetic test, through in vivo and in vitro analysis and back o human<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Polycystic kidney disease (pkd). from the genetic test, through in vivo and in vitro analysis and back o human <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Angel Garc\u00eda Gonz\u00e1lez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Santiago de compostela<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/06\/2006<\/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> Lens Neo Xose Manuel<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Carlos Dieguez <\/li>\n<li>Jos\u00e9 Miguel Lopez novoa (vocal)<\/li>\n<li>Jos\u00e9 Luis Labandeira garcia (vocal)<\/li>\n<li>anna Messeguer navarro (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Angel Garc\u00eda Gonz\u00e1lez El objeto de estudio de esta tesis son dos enfermedades qu\u00edsticas renales hereditarias. [&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":[179,977],"tags":[34233,117897,3006,5695,117896,117895],"class_list":["post-53422","post","type-post","status-publish","format-standard","hentry","category-nefrologia","category-santiago-de-compostela","tag-anna-messeguer-navarro","tag-carlos-dieguez","tag-jose-luis-labandeira-garcia","tag-jose-miguel-lopez-novoa","tag-lens-neo-xose-manuel","tag-miguel-angel-garcia-gonzalez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53422","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=53422"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/53422\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=53422"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=53422"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=53422"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}