{"id":642,"date":"2023-06-06T06:40:45","date_gmt":"2023-06-06T06:40:45","guid":{"rendered":"http:\/\/www.therapeut-naturheilpraxis.de\/?p=642"},"modified":"2023-07-03T12:43:46","modified_gmt":"2023-07-03T12:43:46","slug":"blog-03","status":"publish","type":"post","link":"https:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog-03\/","title":{"rendered":"La mutation C-Nap1 affecte la coh\u00e9sion des centrioles et est associ\u00e9e \u00e0 un syndrome de Seckel chez les bovins"},"content":{"rendered":"<p>Le syndrome d'hypoplasie g\u00e9n\u00e9ralis\u00e9e caprine (SHGC) est un trouble autosomique r\u00e9cessif chez la vache montb\u00e9liarde. Les animaux affect\u00e9s pr\u00e9sentent un large \u00e9ventail de caract\u00e9ristiques cliniques, dont le retard de d\u00e9veloppement avec un faible poids de la patte, une hypoplasie musculaire du membre inf\u00e9rieur, une t\u00eate mince comme celle d'une caprine et une d\u00e9pigmentation partielle de la robe. Nous montrons ici que la SHGC est caus\u00e9e par une mutation tronquante dans le g\u00e8ne CEP250 qui encode la prot\u00e9ine centrosomique C-Nap1. Cette mutation entra\u00eene un fractionnement du centrosome, qui n'affecte ni l'ultrastructure et la duplication du centriole dans les cellules de division, ni la fonction du centriole dans l'assemblage du cil et l'organisation du fuseau mitotique. La perte de la coh\u00e9sion des centrioles m\u00e9di\u00e9e par C-Nap1 entra\u00eene une alt\u00e9ration du ph\u00e9notype de migration cellulaire. Cette d\u00e9couverte \u00e9largit la gamme des loci qui constituent le spectre de la microc\u00e9phalie primaire r\u00e9cessive autosomique (MCPH) et des syndromes de Seckel-like.<\/p>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25902731\/\" target=\"_blank\" rel=\"noreferrer noopener\">Lire la suite pubMed.nci.nml.nih.gov<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montb\u00e9liarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1044,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[],"class_list":["post-642","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog","entry","has-media"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle - Molekulare Naturtherapie Praxis<\/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:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog-03\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle - Molekulare Naturtherapie Praxis\" \/>\n<meta property=\"og:description\" content=\"Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montb\u00e9liarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog-03\/\" \/>\n<meta property=\"og:site_name\" content=\"Molekulare Naturtherapie Praxis\" \/>\n<meta property=\"article:published_time\" content=\"2023-06-06T06:40:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-07-03T12:43:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1707\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"AAD\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"AAD\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/\"},\"author\":{\"name\":\"AAD\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#\\\/schema\\\/person\\\/a7ca7ebf74ca30a63a8db9e2ad947455\"},\"headline\":\"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle\",\"datePublished\":\"2023-06-06T06:40:45+00:00\",\"dateModified\":\"2023-07-03T12:43:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/\"},\"wordCount\":143,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/06\\\/c-nap.jpg\",\"articleSection\":[\"Blog\"],\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/\",\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/\",\"name\":\"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle - Molekulare Naturtherapie Praxis\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/06\\\/c-nap.jpg\",\"datePublished\":\"2023-06-06T06:40:45+00:00\",\"dateModified\":\"2023-07-03T12:43:46+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#primaryimage\",\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/06\\\/c-nap.jpg\",\"contentUrl\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/06\\\/c-nap.jpg\",\"width\":2560,\"height\":1707,\"caption\":\"c-nap\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/2023\\\/06\\\/06\\\/blog-03\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Startseite\",\"item\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#website\",\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/\",\"name\":\"Molekulare Naturtherapie-Praxis\",\"description\":\"\",\"publisher\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#organization\",\"name\":\"Molekulare Naturtherapie-Praxis\",\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/05\\\/logo-therapeuth-praxis-3.png\",\"contentUrl\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/wp-content\\\/uploads\\\/2023\\\/05\\\/logo-therapeuth-praxis-3.png\",\"width\":300,\"height\":264,\"caption\":\"Molekulare Naturtherapie-Praxis\"},\"image\":{\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/#\\\/schema\\\/person\\\/a7ca7ebf74ca30a63a8db9e2ad947455\",\"name\":\"AAD\",\"sameAs\":[\"http:\\\/\\\/www.therapeut-naturheilpraxis.de\"],\"url\":\"https:\\\/\\\/therapeut-naturheilpraxis.de\\\/fr\\\/author\\\/aad\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"La mutation C-Nap1 affecte la coh\u00e9sion des centrioles et est associ\u00e9e \u00e0 un syndrome de Seckel chez les bovins - Molecular Natural Therapy Practice","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog-03\/","og_locale":"fr_FR","og_type":"article","og_title":"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle - Molekulare Naturtherapie Praxis","og_description":"Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montb\u00e9liarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the [&hellip;]","og_url":"https:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog-03\/","og_site_name":"Molekulare Naturtherapie Praxis","article_published_time":"2023-06-06T06:40:45+00:00","article_modified_time":"2023-07-03T12:43:46+00:00","og_image":[{"width":2560,"height":1707,"url":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg","type":"image\/jpeg"}],"author":"AAD","twitter_card":"summary_large_image","twitter_misc":{"\u00c9crit par":"AAD","Dur\u00e9e de lecture estim\u00e9e":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#article","isPartOf":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/"},"author":{"name":"AAD","@id":"https:\/\/therapeut-naturheilpraxis.de\/#\/schema\/person\/a7ca7ebf74ca30a63a8db9e2ad947455"},"headline":"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle","datePublished":"2023-06-06T06:40:45+00:00","dateModified":"2023-07-03T12:43:46+00:00","mainEntityOfPage":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/"},"wordCount":143,"commentCount":0,"publisher":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/#organization"},"image":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#primaryimage"},"thumbnailUrl":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg","articleSection":["Blog"],"inLanguage":"fr-FR","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/","url":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/","name":"La mutation C-Nap1 affecte la coh\u00e9sion des centrioles et est associ\u00e9e \u00e0 un syndrome de Seckel chez les bovins - Molecular Natural Therapy Practice","isPartOf":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/#website"},"primaryImageOfPage":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#primaryimage"},"image":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#primaryimage"},"thumbnailUrl":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg","datePublished":"2023-06-06T06:40:45+00:00","dateModified":"2023-07-03T12:43:46+00:00","breadcrumb":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/"]}]},{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#primaryimage","url":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg","contentUrl":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/06\/c-nap.jpg","width":2560,"height":1707,"caption":"c-nap"},{"@type":"BreadcrumbList","@id":"https:\/\/therapeut-naturheilpraxis.de\/2023\/06\/06\/blog-03\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Startseite","item":"https:\/\/therapeut-naturheilpraxis.de\/"},{"@type":"ListItem","position":2,"name":"C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle"}]},{"@type":"WebSite","@id":"https:\/\/therapeut-naturheilpraxis.de\/#website","url":"https:\/\/therapeut-naturheilpraxis.de\/","name":"Pratique de la th\u00e9rapie naturelle mol\u00e9culaire","description":"","publisher":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/therapeut-naturheilpraxis.de\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/therapeut-naturheilpraxis.de\/#organization","name":"Pratique de la th\u00e9rapie naturelle mol\u00e9culaire","url":"https:\/\/therapeut-naturheilpraxis.de\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/therapeut-naturheilpraxis.de\/#\/schema\/logo\/image\/","url":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/05\/logo-therapeuth-praxis-3.png","contentUrl":"https:\/\/therapeut-naturheilpraxis.de\/wp-content\/uploads\/2023\/05\/logo-therapeuth-praxis-3.png","width":300,"height":264,"caption":"Molekulare Naturtherapie-Praxis"},"image":{"@id":"https:\/\/therapeut-naturheilpraxis.de\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/therapeut-naturheilpraxis.de\/#\/schema\/person\/a7ca7ebf74ca30a63a8db9e2ad947455","name":"AAD","sameAs":["http:\/\/www.therapeut-naturheilpraxis.de"],"url":"https:\/\/therapeut-naturheilpraxis.de\/fr\/author\/aad\/"}]}},"_links":{"self":[{"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/posts\/642","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/comments?post=642"}],"version-history":[{"count":2,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/posts\/642\/revisions"}],"predecessor-version":[{"id":840,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/posts\/642\/revisions\/840"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/media\/1044"}],"wp:attachment":[{"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/media?parent=642"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/categories?post=642"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/therapeut-naturheilpraxis.de\/fr\/wp-json\/wp\/v2\/tags?post=642"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}