{"id":39220,"date":"2019-09-25T08:32:06","date_gmt":"2019-09-25T12:32:06","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39220-2\/"},"modified":"2024-01-29T10:00:34","modified_gmt":"2024-01-29T15:00:34","slug":"39220-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39220-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique<\/strong><\/h2>\n<p>Article de recherche original de B.J. O&#8217;Roak <em>et al.<\/em> (2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23160955\">ici<\/a>.<\/p>\n<p>Les auteurs de cette \u00e9tude ont utilis\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de 2 446 personnes de la Simon Simplex Collection (SSC) pour rechercher 44 g\u00e8nes associ\u00e9s \u00e0 l&#8217;autisme. Le CSE comprend des enfants atteints d&#8217;autisme et de d\u00e9ficience intellectuelle. Cette \u00e9tude a identifi\u00e9 27 modifications g\u00e9n\u00e9tiques de novo (non h\u00e9rit\u00e9es d&#8217;un parent) dans 16 g\u00e8nes, dont 3 patients pr\u00e9sentant des variantes du g\u00e8ne DYRK1A et dont la taille de la t\u00eate \u00e9tait significativement plus petite (microc\u00e9phalie). Cela indique que les modifications du g\u00e8ne <em>DYRK1A <\/em>peuvent \u00eatre li\u00e9es \u00e0 la r\u00e9gulation de la croissance du cerveau, ainsi qu&#8217;\u00e0 l&#8217;autisme et\/ou aux retards de d\u00e9veloppement.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique Article de recherche original de B.J. O&#8217;Roak et al. (2012). Lire le r\u00e9sum\u00e9 ici. Les auteurs de cette \u00e9tude ont utilis\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de 2 446 personnes de la Simon Simplex Collection (SSC) pour rechercher 44 g\u00e8nes [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39220"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=39220"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39220\/revisions"}],"predecessor-version":[{"id":39226,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39220\/revisions\/39226"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39220"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}