{"id":14177,"date":"2023-01-12T16:46:00","date_gmt":"2023-01-12T15:46:00","guid":{"rendered":"https:\/\/www.cutislaxa.org\/?p=14177"},"modified":"2023-01-12T16:53:38","modified_gmt":"2023-01-12T15:53:38","slug":"une-nouvelle-mutation-emilin1","status":"publish","type":"post","link":"https:\/\/www.cutislaxa.org\/fr\/une-nouvelle-mutation-emilin1\/","title":{"rendered":"UNE NOUVELLE MUTATION : EMILIN1"},"content":{"rendered":"

Adamo et al. d\u00e9crivent un nouveau syndr\u00f4me Cutis Laxa caus\u00e9 par une perte de fonction bi-all\u00e9lique de variants\u00a0 EMILIN1 caract\u00e9ris\u00e9 par une tortuosit\u00e9 art\u00e9rielle, la formation d’an\u00e9vrismes et une ost\u00e9p\u00e9nie. Ils d\u00e9montrent que EMILIN1 connecte le r\u00e9seau des fibres \u00e9lastques avec la formation des fibrilles de collag\u00e8ne, indispensable \u00e0 la fois pour les os et le tissu vasculaire.<\/p>\n

 <\/p>\n

Lire la publication (en anglais)<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Adamo et al. d\u00e9crivent un nouveau syndr\u00f4me Cutis Laxa caus\u00e9 par une perte de fonction bi-all\u00e9lique de variants\u00a0 EMILIN1 caract\u00e9ris\u00e9 par une tortuosit\u00e9 art\u00e9rielle, la formation d’an\u00e9vrismes et une ost\u00e9p\u00e9nie. Ils d\u00e9montrent que EMILIN1 connecte le r\u00e9seau des fibres \u00e9lastques avec la formation des fibrilles de collag\u00e8ne, indispensable \u00e0 la fois pour les os et […]<\/p>\n","protected":false},"author":2,"featured_media":14172,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[59,61,60,66],"tags":[],"class_list":["post-14177","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-number-mutations-fr","category-quoi-de-neuf","category-recherche","category-recherche-medecine-genetique"],"yoast_head":"\nUNE NOUVELLE MUTATION : EMILIN1 - CUTIS LAXA INTERNATIONALE<\/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.cutislaxa.org\/a-new-mutation-emilin1\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"UNE NOUVELLE MUTATION : EMILIN1 - CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"og:description\" content=\"Adamo et al. d\u00e9crivent un nouveau syndr\u00f4me Cutis Laxa caus\u00e9 par une perte de fonction bi-all\u00e9lique de variants\u00a0 EMILIN1 caract\u00e9ris\u00e9 par une tortuosit\u00e9 art\u00e9rielle, la formation d’an\u00e9vrismes et une ost\u00e9p\u00e9nie. Ils d\u00e9montrent que EMILIN1 connecte le r\u00e9seau des fibres \u00e9lastques avec la formation des fibrilles de collag\u00e8ne, indispensable \u00e0 la fois pour les os et […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.cutislaxa.org\/a-new-mutation-emilin1\/\" \/>\n<meta property=\"og:site_name\" content=\"CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CutisLaxaAssociation\/\" \/>\n<meta property=\"article:published_time\" content=\"2023-01-12T15:46:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-01-12T15:53:38+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2023\/01\/Emilin1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"485\" \/>\n\t<meta property=\"og:image:height\" content=\"485\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Marie-Claude\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"Marie-Claude\" \/>\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:\/\/www.cutislaxa.org\/a-new-mutation-emilin1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.cutislaxa.org\/a-new-mutation-emilin1\/\"},\"author\":{\"name\":\"Marie-Claude\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/person\/2b5e58dca5a6f412607f985f2823d045\"},\"headline\":\"UNE NOUVELLE MUTATION : EMILIN1\",\"datePublished\":\"2023-01-12T15:46:00+00:00\",\"dateModified\":\"2023-01-12T15:53:38+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.cutislaxa.org\/a-new-mutation-emilin1\/\"},\"wordCount\":78,\"publisher\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#organization\"},\"articleSection\":[\"Mutations\",\"Quoi de neuf\",\"Recherche\",\"Recherche - 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