{"id":14842,"date":"2024-06-01T17:50:23","date_gmt":"2024-06-01T15:50:23","guid":{"rendered":"https:\/\/arcensus.gwmd.dev\/?p=14842"},"modified":"2024-06-26T15:18:02","modified_gmt":"2024-06-26T13:18:02","slug":"eshg-2024-poster-svbp-gene","status":"publish","type":"post","link":"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/","title":{"rendered":"ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly"},"content":{"rendered":"\n<p>Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). VASH1-SVBP and VASH2-SVBP complexes exhibit specific Tyr\/Phe carboxypeptidase activity on microtubules. Recent literature has associated biallelic truncating variants in SVBP gene with neurodevelopmental disorders in five unrelated families. Here we report four patients from two unrelated families with similar neurodevelopmental disorders.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). VASH1-SVBP and VASH2-SVBP complexes exhibit specific Tyr\/Phe carboxypeptidase activity on microtubules. Recent literature has associated biallelic truncating variants in SVBP gene with neurodevelopmental disorders in five unrelated families. Here we report four patients from two unrelated [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":14796,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[82],"tags":[],"class_list":["post-14842","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publications"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v23.9 (Yoast SEO v23.9) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Arcensus &#8211; Publications &#8211; ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly<\/title>\n<meta name=\"description\" content=\"Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). VASH1-SVBP and VASH2-SVBP complexes Yasaman Pakdaman, Somayeh Bakhtiari, Roseline Caumes, Paskal Cullufi, Yiran Xu, Changlian Zhu, Yangong Wang, Thomas Smol, Michael C Kruer, Aboulfazl Rad, Shivendra Kishore, Gabriela Oprea\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly\" \/>\n<meta property=\"og:description\" content=\"Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). VASH1-SVBP and VASH2-SVBP complexes Yasaman Pakdaman, Somayeh Bakhtiari, Roseline Caumes, Paskal Cullufi, Yiran Xu, Changlian Zhu, Yangong Wang, Thomas Smol, Michael C Kruer, Aboulfazl Rad, Shivendra Kishore, Gabriela Oprea\" \/>\n<meta property=\"og:url\" content=\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/\" \/>\n<meta property=\"og:site_name\" content=\"Arcensus\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/arcensus\/\" \/>\n<meta property=\"article:published_time\" content=\"2024-06-01T15:50:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-06-26T13:18:02+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/arcensus.gwmd.dev\/wp-content\/uploads\/2024-06_news_publications-default.webp\" \/>\n\t<meta property=\"og:image:width\" content=\"1880\" \/>\n\t<meta property=\"og:image:height\" content=\"940\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/webp\" \/>\n<meta name=\"author\" content=\"aDm1n_GW\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@arcensus\" \/>\n<meta name=\"twitter:site\" content=\"@arcensus\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"aDm1n_GW\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\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\":\"ScholarlyArticle\",\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/\"},\"author\":{\"name\":\"aDm1n_GW\",\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/#\/schema\/person\/43ddf529eb92472cab959d9654545aa4\"},\"headline\":\"ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly\",\"datePublished\":\"2024-06-01T15:50:23+00:00\",\"dateModified\":\"2024-06-26T13:18:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/\"},\"wordCount\":72,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/#organization\"},\"image\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/arcensus.gwmd.dev\/wp-content\/uploads\/2024-06_news_publications-default.webp\",\"articleSection\":[\"Publications\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/\",\"url\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/\",\"name\":\"Arcensus &#8211; Publications &#8211; ESHG 2024 Poster: Novel bi-allelic missense SVBP variant causes neurodevelopmental disorder with microcephaly\",\"isPartOf\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/arcensus.gwmd.dev\/en\/publications\/2024\/06\/eshg-2024-poster-svbp-gene\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/arcensus.gwmd.dev\/wp-content\/uploads\/2024-06_news_publications-default.webp\",\"datePublished\":\"2024-06-01T15:50:23+00:00\",\"dateModified\":\"2024-06-26T13:18:02+00:00\",\"description\":\"Small vasohibin-binding protein (SVBP) functions as a chaperone and a co-factor for vasohibin 1 and 2 (VASH1 and 2). 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