{"id":96,"date":"2019-03-13T22:25:40","date_gmt":"2019-03-13T21:25:40","guid":{"rendered":"http:\/\/www.champ1.fr\/?page_id=96"},"modified":"2025-02-05T02:18:29","modified_gmt":"2025-02-05T01:18:29","slug":"recherche","status":"publish","type":"page","link":"https:\/\/www.champ1.fr\/index.php\/recherche\/","title":{"rendered":"Recherche"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"96\" class=\"elementor elementor-96\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-1a87db56 elementor-section-stretched elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"1a87db56\" data-element_type=\"section\" data-settings=\"{&quot;stretch_section&quot;:&quot;section-stretched&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-no\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1dd3c922\" data-id=\"1dd3c922\" 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-b9bcdc elementor-widget elementor-widget-text-editor\" data-id=\"b9bcdc\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h3 style=\"text-align: left;\">Recherche globale<\/h3>\n<div>Retrouvez toutes les actualit\u00e9s sur le <a href=\"https:\/\/champ1foundation.org\/portal\/\">portail recherche<\/a> de la CHAMP1 Research Foundation (en anglais)<br><\/div>\n<p><!-- \/wp:heading --><\/p>\n<p><!-- wp:paragraph {\"align\":\"left\"} --><\/p>\n<p style=\"text-align: left;\">Le g\u00e8ne CHAMP1 situ\u00e9 le bras long du chromosome 13 est encore mal connu. Sa localisation n\u2019est connue que depuis 2015. Ses implications physiologiques et ses m\u00e9canismes d\u2019action sont encore peu clairs mais il jouerait un r\u00f4le fondamental dans la s\u00e9paration des chromosomes lors des divisons cellulaires.<\/p>\n<p style=\"text-align: left;\">Le fait qu\u2019il engendre des dysfonctionnements de nombreux organes en cas de mutation indique que le g\u00e8ne est exprim\u00e9 dans plusieurs lign\u00e9es cellulaires du corps humain. La recherche est donc primordiale et l\u2019un des buts de l\u2019association est d\u2019encourager les \u00e9quipes de recherche \u00e0 poursuivre l\u2019\u00e9tude du g\u00e8ne CHAMP1 et de ses mutations.<\/p>\n<p style=\"text-align: left;\">Vous pouvez aider \u00e0 mieux connaitre les mutations du g\u00e8ne CHAMP1 en enregistrant votre famille en cliquant sur le logo des registres suivant:<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:image {\"id\":260,\"width\":575,\"height\":250,\"linkDestination\":\"custom\"} --><\/p>\n<figure class=\"wp-block-image is-resized\"><a href=\"https:\/\/genida.unistra.fr\/\" target=\"_blank\" rel=\"noreferrer noopener\"><img decoding=\"async\" class=\"alignleft wp-image-260\" src=\"https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/genida4.10fa499df2b3633516abf5553861d2d4110.png\" alt=\"\" width=\"248\" height=\"106\" srcset=\"https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/genida4.10fa499df2b3633516abf5553861d2d4110.png 700w, https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/genida4.10fa499df2b3633516abf5553861d2d4110-300x129.png 300w\" sizes=\"(max-width: 248px) 100vw, 248px\" \/><\/a><a href=\"https:\/\/rare-x.org\/patients\/\"><img decoding=\"async\" class=\"attachment-full aligncenter wp-image-7208\" src=\"https:\/\/i0.wp.com\/rare-x.org\/wp-content\/uploads\/2024\/07\/RARE-X-recolor-1.png?fit=2617%2C915&amp;ssl=1\" alt=\"\" width=\"160\" height=\"56\"><\/a><a href=\"https:\/\/www.simonssearchlight.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; <br><\/a><p><\/p>\n<figure class=\"wp-block-image is-resized\"><a href=\"https:\/\/www.simonssearchlight.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><img decoding=\"async\" class=\"alignright wp-image-277\" src=\"https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/D7CLtA2XYAIIVWN-1.jpg\" alt=\"\" width=\"151\" height=\"85\" srcset=\"https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/D7CLtA2XYAIIVWN-1.jpg 960w, https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/D7CLtA2XYAIIVWN-1-300x169.jpg 300w, https:\/\/www.champ1.fr\/wp-content\/uploads\/2019\/06\/D7CLtA2XYAIIVWN-1-768x432.jpg 768w\" sizes=\"(max-width: 151px) 100vw, 151px\" \/><\/a><\/figure>\n<p><a href=\"https:\/\/www.simonssearchlight.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;<\/a><\/p>\n<figure class=\"wp-block-image is-resized\"><\/figure>\n<\/figure>\n<p><!-- \/wp:image --><\/p>\n<p><!-- wp:image {\"id\":277,\"width\":575,\"height\":247,\"linkDestination\":\"custom\"} --><\/p>\n<figure class=\"wp-block-image is-resized\"><a href=\"https:\/\/www.simonssearchlight.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;<\/a><\/figure>\n<p><!-- \/wp:image --><\/p>\n<p><!-- wp:heading --><\/p>\n<h3>Publications scientifiques (en cours d&rsquo;actualisation)<br><\/h3>\n<p><!-- \/wp:heading --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Itoh G, Kanno S, Uchida KS, Chiba S, Sugino S, Watanabe K, et al. CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment. EMBO J.2011;30(1):13044.&nbsp; <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3020106\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3020106\/<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Study DDD. =&gt; Large-scale discovery of novel genetic causes of developmental disorders. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5955210\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5955210\/<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, et al. =&gt; De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4564986\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4564986\/<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Isidor B, K\u00fcry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, et al. =&gt; De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26751395\">https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26751395<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, et al. =&gt; De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4849844\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4849844\/<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<p><!-- wp:list --><\/p>\n<ul>\n<li>Okamoto N, Tsuchiya Y, Kuki I, Yamamoto T, Saitsu H, Kitagawa D, et al. =&gt; Disturbed chromosome segregation and multipolar spindle formation in a patient with. Mol Genet Genomic Med&nbsp; <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5606869\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5606869\/<\/a><\/li>\n<\/ul>\n<p><!-- \/wp:list --><\/p>\n<div><br><\/div>\t\t\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<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<div class=\"entry-summary\">\n<div class=\"entry-summary\">\nRecherche globale Retrouvez toutes les actualit\u00e9s sur le portail recherche de la CHAMP1 Research Foundation (en anglais) Le g\u00e8ne CHAMP1 situ\u00e9 le bras long du chromosome 13 est encore mal connu. Sa localisation n\u2019est connue que depuis 2015. Ses implications&hellip;\n<\/div>\n<div class=\"link-more\"><a href=\"https:\/\/www.champ1.fr\/index.php\/recherche\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> &ldquo;Recherche&rdquo;<\/span>&hellip;<\/a><\/div>\n<\/div>\n<div class=\"link-more\"><a href=\"https:\/\/www.champ1.fr\/index.php\/recherche\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> &ldquo;Recherche&rdquo;<\/span>&hellip;<\/a><\/div>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-96","page","type-page","status-publish","hentry","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Recherche &#183;<\/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.champ1.fr\/index.php\/recherche\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recherche &#183;\" \/>\n<meta property=\"og:description\" content=\"Recherche globale Retrouvez toutes les actualit\u00e9s sur le portail recherche de la CHAMP1 Research Foundation (en anglais) Le g\u00e8ne CHAMP1 situ\u00e9 le bras long du chromosome 13 est encore mal connu. Sa localisation n\u2019est connue que depuis 2015. 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