{"id":14086,"date":"2026-03-25T17:00:00","date_gmt":"2026-03-25T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=af40e6b26cbe46ec78d64d432692c687"},"modified":"2026-03-25T23:00:00","modified_gmt":"2026-03-25T23:00:00","slug":"bi-allelic-variants-in-ola1-cause-a-neurodevelopmental-disorder-with-joint-hypermobility","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/25\/bi-allelic-variants-in-ola1-cause-a-neurodevelopmental-disorder-with-joint-hypermobility\/","title":{"rendered":"Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility"},"content":{"rendered":"Our study identifies the first human knockouts of OLA1 presenting with a hypermobility-neurodevelopmental syndrome supported by functional data derived from patient cells and C. elegans models. The work highlights OLA1 as a key regulator of microtubule dynamics essential for human connective tissue and brain function.","protected":false},"excerpt":{"rendered":"<p>Our study identifies the first human knockouts of OLA1 presenting with a hypermobility-neurodevelopmental syndrome supported by functional data derived from patient cells and C. elegans models. The work highlights OLA1 as a key regulator of microtubule&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-14086","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14086","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=14086"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14086\/revisions"}],"predecessor-version":[{"id":14179,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14086\/revisions\/14179"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=14086"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=14086"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=14086"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}