{"id":38619,"date":"2019-09-27T07:48:03","date_gmt":"2019-09-27T11:48:03","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38619-2\/"},"modified":"2024-01-29T09:58:21","modified_gmt":"2024-01-29T14:58:21","slug":"38619-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38619-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>La perturbation d&#8217;un module de modification de la chromatine associ\u00e9 \u00e0 EHMT1 entra\u00eene une d\u00e9ficience intellectuelle<\/strong><\/h2>\n<p>Article de recherche original de T. Kleefstra <em>et al. <\/em>(2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22726846\">ici<\/a>.<\/p>\n<p><strong>Le<\/strong> spectre du syndrome de Kleefstra (KSS) est une maladie g\u00e9n\u00e9tique rare qui se caract\u00e9rise par une d\u00e9ficience intellectuelle, un faible tonus musculaire et des traits faciaux particuliers. Jusqu&#8217;\u00e0 cette \u00e9tude, le seul g\u00e8ne connu pour \u00eatre associ\u00e9 au KSS \u00e9tait le g\u00e8ne EHMT1, mais ce g\u00e8ne n&#8217;est pas modifi\u00e9 chez toutes les personnes atteintes du syndrome. Dans cette \u00e9tude, les chercheurs ont cherch\u00e9 \u00e0 identifier la cause du KSS chez les personnes qui ne pr\u00e9sentaient pas de changement dans l&#8217;EHMT1. Ils ont trouv\u00e9 des changements dans <strong>MBD5<\/strong>, MLL3, SMARCB1 et NR113.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La perturbation d&#8217;un module de modification de la chromatine associ\u00e9 \u00e0 EHMT1 entra\u00eene une d\u00e9ficience intellectuelle Article de recherche original de T. Kleefstra et al. (2012). Lire le r\u00e9sum\u00e9 ici. Le spectre du syndrome de Kleefstra (KSS) est une maladie g\u00e9n\u00e9tique rare qui se caract\u00e9rise par une d\u00e9ficience intellectuelle, un faible tonus musculaire et des [&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\/38619"}],"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=38619"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38619\/revisions"}],"predecessor-version":[{"id":38624,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38619\/revisions\/38624"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38619"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}