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_builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_text _builder_version=\u00a0\u00bb4.23.1&Prime; text_font=\u00a0\u00bb||||||||\u00a0\u00bb text_font_size=\u00a0\u00bb16px\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb link_font=\u00a0\u00bb|700|||||||\u00a0\u00bb link_text_color=\u00a0\u00bb#26c699&Prime; header_font=\u00a0\u00bb||||||||\u00a0\u00bb header_font_size=\u00a0\u00bb34px\u00a0\u00bb header_2_font=\u00a0\u00bbFaustina|600|||||||\u00a0\u00bb header_2_text_color=\u00a0\u00bb#0e7162&Prime; header_2_font_size=\u00a0\u00bb42px\u00a0\u00bb header_2_line_height=\u00a0\u00bb1.4em\u00a0\u00bb text_orientation=\u00a0\u00bbcenter\u00a0\u00bb max_width=\u00a0\u00bb850px\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb text_font_size_tablet=\u00a0\u00bb\u00a0\u00bb text_font_size_phone=\u00a0\u00bb17px\u00a0\u00bb text_font_size_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb header_2_font_size_tablet=\u00a0\u00bb32px\u00a0\u00bb header_2_font_size_phone=\u00a0\u00bb22px\u00a0\u00bb header_2_font_size_last_edited=\u00a0\u00bbon|desktop\u00a0\u00bb locked=\u00a0\u00bboff\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<h1 style=\"font-weight: 400; text-align: center;\"><span style=\"font-size: large; color: #008080;\">Qu&rsquo;il s&rsquo;agisse de mod\u00e8les animaux et cellulaires ou d&rsquo;un registre de patients, notre objectif est de fournir aux scientifiques les ressources n\u00e9cessaires pour faire avancer la recherche sur les maladies <em>li\u00e9es au CLCN4<\/em>. Voici une liste des outils disponibles et \u00e0 venir pour faciliter la recherche de pointe dans ce domaine. <\/span><\/h1>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_image src=\u00a0\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Screenshot-2023-10-24-at-09.48.55.png\u00a0\u00bb title_text=\u00a0\u00bbrecherche_scientifique\u00a0\u00bb _builder_version=\u00a0\u00bb4.23.1&Prime; _module_preset=\u00a0\u00bbdefault\u00a0\u00bb max_width=\u00a0\u00bb73%\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb hover_enabled=\u00a0\u00bb0&Prime; global_colors_info=\u00a0\u00bb{}\u00a0\u00bb sticky_enabled=\u00a0\u00bb0&Prime;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.16&Prime; background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb40px|80px|27px|80px|false|true\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb\u00a0\u00bb custom_padding_phone=\u00a0\u00bb|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3&Prime; box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_text _builder_version=\u00a0\u00bb4.22.2&Prime; text_font=\u00a0\u00bbFaustina||||||||\u00a0\u00bb text_font_size=\u00a0\u00bb24px\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb link_font=\u00a0\u00bb|700|||||||\u00a0\u00bb link_text_color=\u00a0\u00bb#26c699&Prime; header_font=\u00a0\u00bb||||||||\u00a0\u00bb header_font_size=\u00a0\u00bb31px\u00a0\u00bb header_2_font=\u00a0\u00bbFaustina|600|||||||\u00a0\u00bb header_2_text_color=\u00a0\u00bb#0e7162&Prime; header_2_font_size=\u00a0\u00bb34px\u00a0\u00bb header_2_line_height=\u00a0\u00bb1.4em\u00a0\u00bb text_orientation=\u00a0\u00bbcenter\u00a0\u00bb max_width=\u00a0\u00bb850px\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb text_font_size_tablet=\u00a0\u00bb\u00a0\u00bb text_font_size_phone=\u00a0\u00bb17px\u00a0\u00bb text_font_size_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb header_2_font_size_tablet=\u00a0\u00bb32px\u00a0\u00bb header_2_font_size_phone=\u00a0\u00bb22px\u00a0\u00bb header_2_font_size_last_edited=\u00a0\u00bbon|desktop\u00a0\u00bb locked=\u00a0\u00bboff\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<h2 style=\"text-align: left;\">Mod\u00e8les animaux et cellulaires<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=\u00a0\u00bb1_2,1_2&Prime; custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.16&Prime; background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb29px|80px|28px|80px|false|false\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb|80px||80px|false|true\u00a0\u00bb custom_padding_phone=\u00a0\u00bb40px|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3&Prime; box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_blurb title=\u00a0\u00bbMod\u00e8les de rats Clcn4 (COMMANDER !)\u00a0\u00bb content_max_width=\u00a0\u00bb800px\u00a0\u00bb _builder_version=\u00a0\u00bb4.23.1&Prime; header_font=\u00a0\u00bb|700||on|||||\u00a0\u00bb header_font_size=\u00a0\u00bb15px\u00a0\u00bb header_line_height=\u00a0\u00bb2em\u00a0\u00bb body_font_size=\u00a0\u00bb17px\u00a0\u00bb body_line_height=\u00a0\u00bb2em\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<p style=\"text-align: justify;\">Trois mod\u00e8les de rats <em>Clcn4<\/em> sont disponibles pour la recherche. Les mod\u00e8les sont disponibles dans le d\u00e9p\u00f4t INFRAFRONTIER. Pour plus d&rsquo;informations, veuillez nous envoyer un courriel \u00e0 l&rsquo;adresse suivante <a href=\"mailto:info@cureclcn4.org\">: info@cureclcn4.org<\/a>  <\/p>\n<ul>\n<li style=\"text-align: justify;\"><em>Clcn4<\/em> knockout (EM:15193)<\/li>\n<li style=\"text-align: justify;\">Mutation ponctuelle <em>Clcn4<\/em> A549V ; \u00e9quivalente \u00e0 la mutation humaine A555V (EM:15194)<\/li>\n<li style=\"text-align: justify;\"><em>Clcn4<\/em> conditional knockout (bient\u00f4t disponible dans le d\u00e9p\u00f4t)<\/li>\n<\/ul>\n<p>[\/et_pb_blurb][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_image src=\u00a0\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Screenshot-2023-10-24-at-09.46.13.png\u00a0\u00bb title_text=\u00a0\u00bbCapture d&#039;\u00e9cran du 2023-10-24 \u00e0 09.46.13&Prime; _builder_version=\u00a0\u00bb4.22.2&Prime; _module_preset=\u00a0\u00bbdefault\u00a0\u00bb max_width=\u00a0\u00bb60%\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=\u00a0\u00bb1_2,1_2&Prime; custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.16&Prime; background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb29px|80px|28px|80px|false|false\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb|80px||80px|false|true\u00a0\u00bb custom_padding_phone=\u00a0\u00bb40px|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3&Prime; box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_image src=\u00a0\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Screenshot-2023-10-24-at-09.44.03.png\u00a0\u00bb title_text=\u00a0\u00bbCapture d&#039;\u00e9cran 2023-10-24 \u00e0 09.44.03&Prime; _builder_version=\u00a0\u00bb4.22.2&Prime; _module_preset=\u00a0\u00bbdefault\u00a0\u00bb width=\u00a0\u00bb58%\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][\/et_pb_image][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_blurb title=\u00a0\u00bbiPSCs d\u00e9riv\u00e9es de patients Clcn4 (attendues janvier-2024)\u00a0\u00bb content_max_width=\u00a0\u00bb800px\u00a0\u00bb _builder_version=\u00a0\u00bb4.23.1&Prime; header_font=\u00a0\u00bb|700||on|||||\u00a0\u00bb header_font_size=\u00a0\u00bb15px\u00a0\u00bb header_line_height=\u00a0\u00bb2em\u00a0\u00bb body_font_size=\u00a0\u00bb17px\u00a0\u00bb body_line_height=\u00a0\u00bb2em\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<p style=\"text-align: justify;\">Les lign\u00e9es de cellules souches pluripotentes induites (iPSC) suivantes, d\u00e9riv\u00e9es du <em>patient Clcn4,<\/em> sont en cours de g\u00e9n\u00e9ration, via le programme iPSC de Simons Searchlight. Nous attendons les lign\u00e9es cellulaires pour le d\u00e9but de l&rsquo;ann\u00e9e 2024. Pour plus d&rsquo;informations, veuillez nous envoyer un courriel \u00e0 l&rsquo;adresse suivante <a href=\"mailto:info@cureclcn4.org\">: info@cureclcn4.org<\/a>  <\/p>\n<ul>\n<li style=\"text-align: justify;\"><i>c.1664C&gt;T (p.Ala555Val)<\/i><\/li>\n<li style=\"text-align: justify;\"><i>c.1465C&gt;A (p.Gln489Lys)<\/i><\/li>\n<li style=\"text-align: justify;\"><i>c.2152C&gt;T (p.Arg718Trp)<\/i><\/li>\n<li style=\"text-align: justify;\"><i>c.1630G&gt;A p (Gly544Arg)<\/i><\/li>\n<\/ul>\n<p>[\/et_pb_blurb][\/et_pb_column][\/et_pb_row][et_pb_row custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.16&Prime; background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb40px|80px|27px|80px|false|true\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb\u00a0\u00bb custom_padding_phone=\u00a0\u00bb|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3&Prime; box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_text _builder_version=\u00a0\u00bb4.22.2&Prime; text_font=\u00a0\u00bbFaustina||||||||\u00a0\u00bb text_font_size=\u00a0\u00bb24px\u00a0\u00bb text_line_height=\u00a0\u00bb2em\u00a0\u00bb link_font=\u00a0\u00bb|700|||||||\u00a0\u00bb link_text_color=\u00a0\u00bb#26c699&Prime; header_font=\u00a0\u00bb||||||||\u00a0\u00bb header_font_size=\u00a0\u00bb31px\u00a0\u00bb header_2_font=\u00a0\u00bbFaustina|600|||||||\u00a0\u00bb header_2_text_color=\u00a0\u00bb#0e7162&Prime; header_2_font_size=\u00a0\u00bb34px\u00a0\u00bb header_2_line_height=\u00a0\u00bb1.4em\u00a0\u00bb text_orientation=\u00a0\u00bbcenter\u00a0\u00bb max_width=\u00a0\u00bb850px\u00a0\u00bb module_alignment=\u00a0\u00bbcenter\u00a0\u00bb text_font_size_tablet=\u00a0\u00bb\u00a0\u00bb text_font_size_phone=\u00a0\u00bb17px\u00a0\u00bb text_font_size_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb header_2_font_size_tablet=\u00a0\u00bb32px\u00a0\u00bb header_2_font_size_phone=\u00a0\u00bb22px\u00a0\u00bb header_2_font_size_last_edited=\u00a0\u00bbon|desktop\u00a0\u00bb locked=\u00a0\u00bboff\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<h2 style=\"text-align: left;\">Registre des patients<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=\u00a0\u00bb1_2,1_2&Prime; custom_padding_last_edited=\u00a0\u00bbon|phone\u00a0\u00bb _builder_version=\u00a0\u00bb4.16&Prime; background_color=\u00a0\u00bb#ffffff\u00a0\u00bb max_width=\u00a0\u00bb1200px\u00a0\u00bb custom_padding=\u00a0\u00bb29px|80px|28px|80px|false|false\u00a0\u00bb custom_padding_tablet=\u00a0\u00bb|80px||80px|false|true\u00a0\u00bb custom_padding_phone=\u00a0\u00bb40px|30px||30px||true\u00a0\u00bb box_shadow_style=\u00a0\u00bbpreset3&Prime; box_shadow_vertical=\u00a0\u00bb40px\u00a0\u00bb box_shadow_blur=\u00a0\u00bb100px\u00a0\u00bb box_shadow_spread=\u00a0\u00bb-30px\u00a0\u00bb box_shadow_color=\u00a0\u00bbrgba(0,0,0,0.22)\u00a0\u00bb use_custom_width=\u00a0\u00bbon\u00a0\u00bb custom_width_px=\u00a0\u00bb1200px\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_blurb content_max_width=\u00a0\u00bb800px\u00a0\u00bb _builder_version=\u00a0\u00bb4.23.1&Prime; header_font=\u00a0\u00bb|700|||||||\u00a0\u00bb header_font_size=\u00a0\u00bb16px\u00a0\u00bb header_line_height=\u00a0\u00bb2em\u00a0\u00bb body_font_size=\u00a0\u00bb17px\u00a0\u00bb body_line_height=\u00a0\u00bb2em\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb]<\/p>\n<p style=\"text-align: justify;\">Cure CLCN4 est fi\u00e8re de s&rsquo;associer \u00e0 <strong>Simons Searchlight<\/strong> pour h\u00e9berger un registre officiel de patients atteints de troubles neurod\u00e9veloppementaux <em>li\u00e9s au CLCN4<\/em>. Les chercheurs peuvent acc\u00e9der aux donn\u00e9es de Simons Searchlight (y compris les donn\u00e9es g\u00e9n\u00e9tiques et ph\u00e9notypiques et les \u00e9chantillons biologiques) par le biais de leur portail SFARI Base, qui est soutenu par la Simons Foundation Autism Research Initiative (SFARI). Pour obtenir la liste des variantes de <em>Clcn4<\/em> incluses dans le registre, veuillez cliquer <a href=\"https:\/\/sf-web-assets-prod.s3.amazonaws.com\/wp-content\/uploads\/sites\/2\/2023\/07\/26185939\/Simons-Searchlight-Genetic-Variants-Jan-2023.xlsx\" target=\"_blank\" rel=\"noopener\">ici.<\/a> Pour plus d&rsquo;informations, vous pouvez visiter le <a href=\"https:\/\/www.simonssearchlight.org\/research\/for-scientists\/\" target=\"_blank\" rel=\"noopener\">site Web de<\/a> Simons Searchlight ou nous envoyer un courriel \u00e0 l&rsquo;adresse <a href=\"mailto:info@cureclcn4.org\">info@cureclcn4.org.<\/a>   <\/p>\n<p>[\/et_pb_blurb][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_2&Prime; _builder_version=\u00a0\u00bb4.16&Prime; custom_padding=\u00a0\u00bb|||\u00a0\u00bb global_colors_info=\u00a0\u00bb{}\u00a0\u00bb custom_padding__hover=\u00a0\u00bb|||\u00a0\u00bb][et_pb_image src=\u00a0\u00bbhttps:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Screenshot-2023-10-24-at-09.43.57.png\u00a0\u00bb title_text=\u00a0\u00bbCapture d&#039;\u00e9cran le 2023-10-24 \u00e0 09.43.57&Prime; 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