{"id":108214,"date":"2011-04-05T00:00:00","date_gmt":"2011-04-05T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mecanismos-geneticos-de-activacion-de-va%c2%adas-de-senalizacion-celular-en-neoplasias-mieloproliferativas-cronicas-bcr-abl1-negativas\/"},"modified":"2011-04-05T00:00:00","modified_gmt":"2011-04-05T00:00:00","slug":"mecanismos-geneticos-de-activacion-de-va%c2%adas-de-senalizacion-celular-en-neoplasias-mieloproliferativas-cronicas-bcr-abl1-negativas","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/citogenetica\/mecanismos-geneticos-de-activacion-de-va%c2%adas-de-senalizacion-celular-en-neoplasias-mieloproliferativas-cronicas-bcr-abl1-negativas\/","title":{"rendered":"Mecanismos gen\u00e9ticos de activaci\u00f3n de v\u00edas de se\u00f1alizaci\u00f3n celular en neoplasias mieloproliferativas cr\u00f3nicas bcr-abl1 negativas"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Paula Aranaz Oroz <\/strong><\/h2>\n<p>Genetic mechanisms of activation of cell signaling pathways in bcr-abl1 negative chronic myeloproliferative neoplasms  chronic myeloproliferative neoplasms (cmpns) are clonal disorders of the hematopoietic stem cells, characterized by abnormal proliferation and survival of one or more cells of the myeloid lineage. Bcr-abl1 negative cmpns are a heterogeneous group of diseases for which the molecular pathogenesis is not well understood. Some genetic alterations have been described, most of them activating some tyrosine kinase genes playing a role similar to abl1 in cml. In this study, we have analyzed all genes from tks families fgfr (fgfr1, fgfr2, fgfr3 and fgfr4), abl (abl1 and abl2), syk (syk and zap70) and egfr by fish (to detect cryptic rearrangements), dhplc (to detect sequence mutations) and in some of them by rq-pcr (to analyze changes in gene expression) on samples from 44 bcr-abl1 negative and v617fjak2 negative cmpns. No changes have been identified in these genes, so lesions in other genes must be involved in the pathogenesis of these diseases. In addition we also analysed by dhplc c-cbl, cbl-b and cbl-c, genes that belong to a family of e3-ubiquitin ligases mutated in these neoplasms, in samples from 377 patients of bcr-abl1 negative cmpns (145 v617fjak2 negatives and 232 v617fjak2 positives). We have found five missense mutations in c-cbl and one in cbl-b. Three of the c-cbl mutations and the cbl-b mutation were identified in v617fjak2 positive patients. The functional analysis of these mutations showed that all c-cbl mutations (but not cbl-b and other cbl-c changes) promoted a significant increase in the rate of proliferation induced by il3.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Mecanismos gen\u00e9ticos de activaci\u00f3n de v\u00edas de se\u00f1alizaci\u00f3n celular en neoplasias mieloproliferativas cr\u00f3nicas bcr-abl1 negativas<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Mecanismos gen\u00e9ticos de activaci\u00f3n de v\u00edas de se\u00f1alizaci\u00f3n celular en neoplasias mieloproliferativas cr\u00f3nicas bcr-abl1 negativas <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Paula Aranaz Oroz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Navarra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 04\/05\/2011<\/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>Jos\u00e9 Luis Vizmanos P\u00e9rez<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Francisco javier Novo villaverde <\/li>\n<li>Ana Rouzaut subira (vocal)<\/li>\n<li>Elena Fern\u00e1ndez ruiz (vocal)<\/li>\n<li>Jos\u00e9 Luis Fern\u00e1ndez luna (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Paula Aranaz Oroz Genetic mechanisms of activation of cell signaling pathways in bcr-abl1 negative chronic myeloproliferative neoplasms [&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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