{"id":7355,"date":"2022-05-12T17:20:00","date_gmt":"2022-05-12T15:20:00","guid":{"rendered":"https:\/\/www.nexmif.it\/uncategorized\/razionale-ed-overview-della-malattia-il-fenotipo-kiaa2022-nexmif\/"},"modified":"2022-05-30T09:54:35","modified_gmt":"2022-05-30T07:54:35","slug":"rational-overview-of-the-disease-the-phenotype","status":"publish","type":"post","link":"https:\/\/www.nexmif.it\/en\/scientific-journals\/rational-overview-of-the-disease-the-phenotype\/","title":{"rendered":"Rational and overview of the disease &#8211; the phenotype"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"7355\" class=\"elementor elementor-7355 elementor-6190\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-14bb26a6 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"14bb26a6\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-69d5f5f1 column-style-top column-top\" data-id=\"69d5f5f1\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-293f6532 elementor-widget elementor-widget-text-editor\" data-id=\"293f6532\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.20.0 - 11-03-2024 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p>The <strong>DISCOver<\/strong> project was born at the <strong>G. Gaslini Institute in Genoa<\/strong> and aims to study the genetic basis of cortical developmental defects, to explore innovative approaches to personalized medicine. The technology of interest is that of RNA molecular probes for the activation of genes affected by mutations that cause functional loss. Starting from the production of molecular probes for the TSC1 and TSC2 genes for tuberous sclerosis, the most common form of cortical developmental defect, the female phenotype KIAA2022 \/ Nexmif has now been studied.<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-inner-section elementor-element elementor-element-750858a6 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"750858a6\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-inner-column elementor-element elementor-element-2a9c20e1 column-style-top column-top\" data-id=\"2a9c20e1\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4f218376 elementor-position-left elementor-view-default elementor-mobile-position-top elementor-vertical-align-top elementor-widget elementor-widget-icon-box\" data-id=\"4f218376\" data-element_type=\"widget\" data-widget_type=\"icon-box.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<link rel=\"stylesheet\" href=\"https:\/\/www.nexmif.it\/wp-content\/plugins\/elementor\/assets\/css\/widget-icon-box.min.css\">\t\t<div class=\"elementor-icon-box-wrapper\">\n\t\t\t\t\t\t<div class=\"elementor-icon-box-icon\">\n\t\t\t\t<a href=\"\/wp-content\/uploads\/2022\/05\/Progetto-Prof-Striano.pdf\" class=\"elementor-icon elementor-animation-\" tabindex=\"-1\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-file-pdf\"><\/i>\t\t\t\t<\/a>\n\t\t\t<\/div>\n\t\t\t\t\t\t<div class=\"elementor-icon-box-content\">\n\t\t\t\t<h3 class=\"elementor-icon-box-title\">\n\t\t\t\t\t<a href=\"\/wp-content\/uploads\/2022\/05\/Progetto-Prof-Striano.pdf\" >\n\t\t\t\t\t\tprof. Striano's project DISCOver <i class=\"fa fa-download\"><\/i>\t\t\t\t\t<\/a>\n\t\t\t\t<\/h3>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>The DISCOver project was born at the G. Gaslini Institute in Genoa and aims to study the genetic basis of cortical developmental defects, to explore innovative approaches to personalized medicine. The technology of interest is that of RNA molecular probes for the activation of genes affected by mutations that cause functional loss. Starting from the [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":7980,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[91],"tags":[],"class_list":["post-7355","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-scientific-journals"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Rational and overview of the disease - the phenotype - Unione Italiana Nexmif<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.nexmif.it\/en\/scientific-journals\/rational-overview-of-the-disease-the-phenotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rational and overview of the disease - the phenotype - Unione Italiana Nexmif\" \/>\n<meta property=\"og:description\" content=\"The DISCOver project was born at the G. 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