{"id":21100,"date":"2003-09-01T00:00:00","date_gmt":"2003-09-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-los-dominios-del-factor-von-willebrand-para-su-union-a-los-receptores-plaquetares-su-patologa%c2%ada-y-anomalias-geneticas\/"},"modified":"2003-09-01T00:00:00","modified_gmt":"2003-09-01T00:00:00","slug":"estudio-de-los-dominios-del-factor-von-willebrand-para-su-union-a-los-receptores-plaquetares-su-patologa%c2%ada-y-anomalias-geneticas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/a-coruna\/estudio-de-los-dominios-del-factor-von-willebrand-para-su-union-a-los-receptores-plaquetares-su-patologa%c2%ada-y-anomalias-geneticas\/","title":{"rendered":"Estudio de los dominios del factor von willebrand para su uni\u00f3n a los receptores plaquetares: su patolog\u00eda y anomalias gen\u00e9ticas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> M.norma Penas Salgado <\/strong><\/h2>\n<p>La enfermedad de don willebrand (evw) es un desorden hemorr\u00e1gico hereditario gen\u00e9tica y cl\u00ednicamente heterog\u00e9neo, cuasado por una deficiencia o disfunci\u00f3n del fvw. Es la enfermedad hemorr\u00e1gica hereditaria m\u00e1s com\u00fan en la actualidad. se clasifica en los tipos 1, 2, y 3. A su vez, el tipo 2 se divide en cuatro subtipos: 2a, 2b, 2m y 2n. El diagn\u00f3stico de la evw contin\u00faa siendo un problema cl\u00ednico en muchos casos debido a la ausencia de s\u00edntomas espec\u00edficos, a la gran variedad fenot\u00edpica entre los pacientes, y a la baja sensibilidad de algunos m\u00e9todos que supone muchas veces la realizaci\u00f3n de numerosas pruebas anal\u00edticas.  la identificaci\u00f3n de los defectos gen\u00e9ticos podr\u00eda contribuir a un mejor diang\u00f3stico y clasificaci\u00f3n de esta enfermedad, por lo que los principales objetivos de esta tesis est\u00e1n dirigidos al estudio gen\u00e9tico de la mol\u00e9cula del fvw en formas tipo 2 de evw. Se llev\u00f3 a cabo el an\u00e1lisis gen\u00e9tico de los exones 28 y 44 correspondientes a los m\u00f3dulos del fvw que interaccionan con los receptores plaquetares gp ib-ix y gp iib\/iiia respectivamente. hasta la fecha no se ha encontrado ning\u00fan paciente con alguna alteraci\u00f3n de este \u00faltimo m\u00f3dulo.  la b\u00fasqueda demutaciones en el modulo de uni\u00f3n a la gpib-ix plaquetar, permiti\u00f3 la identificaci\u00f3n de los defectos moleculares responsables de la enfermedad o de las mutaciones candidatas en casi todas las familias estudiadas demostrando la implicaci\u00f3n del gen del fvw.  los cambios c1272x e i1568n son mutaciones candidatas de la evw tipo 2a. la detecci\u00f3n de estas mutaciones que dan lugar a una p\u00e9rdida de la funci\u00f3n del fvw, reafirman la importancia del dominio a1 de la mol\u00e9cula en la funci\u00f3n fisiol\u00f3gica de esta prote\u00edna. Adem\u00e1s, los estudios gen\u00e9ticos han ayudado a la diferenciaci\u00f3n de variantes tipo 2m de evw enmascaradas por formas tipo 1, contribuyendo a un mejor diagn\u00f3stico y clasificaci\u00f3n de los pacientes, as\u00ed como la elecci\u00f3n de un tra<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de los dominios del factor von willebrand para su uni\u00f3n a los receptores plaquetares: su patolog\u00eda y anomalias gen\u00e9ticas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de los dominios del factor von willebrand para su uni\u00f3n a los receptores plaquetares: su patolog\u00eda y anomalias gen\u00e9ticas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M.norma Penas Salgado <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 A coru\u00f1a<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 09\/01\/2003<\/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>Francisco Javier Batlle Fontrodona<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: eduardo Rocha fernando <\/li>\n<li>Jos\u00e9 domingo Pedreira andrade (vocal)<\/li>\n<li>angel Mar\u00eda Carracedo alvarez (vocal)<\/li>\n<li>Ana Mar\u00eda Rodr\u00edguez torres (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M.norma Penas Salgado La enfermedad de don willebrand (evw) es un desorden hemorr\u00e1gico hereditario gen\u00e9tica y cl\u00ednicamente [&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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