{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:29:21Z","timestamp":1792801761105,"version":"4.5.0"},"reference-count":67,"publisher":"The Company of Biologists","issue":"21","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.biologists.com\/user-licence-1-1\/"}],"funder":[{"name":"Centre de recherche Azrieli du CHU Sainte-Justine","id":[{"id":"https:\/\/ror.org\/016e4fa89","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Fonds de Recherche du Qu\u00e9bec \u2013 Sant\u00e9","id":[{"id":"https:\/\/ror.org\/02eqrsj93","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100024255","name":"Institut TransMedTech","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100024255","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["K25HD097288"],"award-info":[{"award-number":["K25HD097288"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Richard Barber Interdisciplinary Research Program"},{"DOI":"10.13039\/100011781","name":"Shriners Hospitals for Children","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100011781","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Congenital scoliosis (CS) is a type of vertebral malformation for which the etiology remains elusive. The notochord is pivotal for vertebrae development, but its role in CS is still understudied. Here, we generated a zebrafish knockout of ptk7a, a planar cell polarity (PCP) gene that is essential for convergence and extension (C&amp;E) of the notochord, and detected congenital scoliosis-like vertebral malformations (CVMs). Maternal zygotic ptk7a mutants displayed severe C&amp;E defects of the notochord. Excessive apoptosis occurred in the malformed notochord, causing a significantly reduced number of vacuolated cells, and compromising the mechanical properties of the notochord. The latter manifested as a less-stiff extracellular matrix along with a significant reduction in the number of the caveolae and severely loosened intercellular junctions in the vacuolated region. These defects led to focal kinks, abnormal mineralization, and CVMs exclusively at the anterior spine. Loss of function of another PCP gene, vangl2, also revealed excessive apoptosis in the notochord associated with CVMs. This study suggests a new model for CS pathogenesis that is associated with defects in notochord C&amp;E and highlights an essential role of PCP signaling in vertebrae development.<\/jats:p>","DOI":"10.1242\/dev.202829","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T08:14:01Z","timestamp":1729152841000},"source":"Crossref","is-referenced-by-count":5,"title":["Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis"],"prefix":"10.1242","volume":"151","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-9445-389X","authenticated-orcid":false,"given":"Mingqin","family":"Wang","sequence":"first","affiliation":[{"name":"Azrieli Research Center of CHU Sainte Justine, University of Montreal 1 , Montreal H3T 1C5, QC ,","place":["Canada"]},{"name":"University of Montreal 2 Department of Neurosciences , , Montreal H3C 3J7, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9418-4231","authenticated-orcid":false,"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences 3 The Department of Orthopedic Surgery , , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenjun","family":"Shi","sequence":"additional","affiliation":[{"name":"Wayne State University 4 Department of Biomedical Engineering , , Detroit, MI 48201 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claude","family":"Guyot","sequence":"additional","affiliation":[{"name":"Azrieli Research Center of CHU Sainte Justine, University of Montreal 1 , Montreal H3T 1C5, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meijiang","family":"Liao","sequence":"additional","affiliation":[{"name":"The CHUM Research Center, University of Montr\u00e9al 5 , Montr\u00e9al H2X 0A9 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6079-4653","authenticated-orcid":false,"given":"Josephine T.","family":"Tauer","sequence":"additional","affiliation":[{"name":"McGill University, Shriners Hospital for Children-Canada 6 Faculty of Dental Medicine and Oral Health Sciences , , Montreal H4A 0A9, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2907-3580","authenticated-orcid":false,"given":"Bettina M.","family":"Willie","sequence":"additional","affiliation":[{"name":"McGill University, Shriners Hospital for Children-Canada 6 Faculty of Dental Medicine and Oral Health Sciences , , Montreal H4A 0A9, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikita","family":"Cobetto","sequence":"additional","affiliation":[{"name":"Polytechnique Montreal 7 Department Mechanical Engineering , , Montreal H3T 1J4, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2374-008X","authenticated-orcid":false,"given":"Carl-\u00c9ric","family":"Aubin","sequence":"additional","affiliation":[{"name":"Azrieli Research Center of CHU Sainte Justine, University of Montreal 1 , Montreal H3T 1C5, QC ,","place":["Canada"]},{"name":"Polytechnique Montreal 7 Department Mechanical Engineering , , Montreal H3T 1J4, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9487-6948","authenticated-orcid":false,"given":"Elke","family":"K\u00fcster-Sch\u00f6ck","sequence":"additional","affiliation":[{"name":"Azrieli Research Center of CHU Sainte Justine, University of Montreal 1 , Montreal H3T 1C5, QC ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9063-0142","authenticated-orcid":false,"given":"Pierre","family":"Drapeau","sequence":"additional","affiliation":[{"name":"University of Montreal 2 Department of Neurosciences , , Montreal H3C 3J7, QC ,","place":["Canada"]},{"name":"The CHUM Research Center, University of Montr\u00e9al 5 , Montr\u00e9al H2X 0A9 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Wayne State University 4 Department of Biomedical Engineering , , Detroit, MI 48201 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Wu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences 3 The Department of Orthopedic Surgery , , Beijing 100730 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6554-0339","authenticated-orcid":false,"given":"Zoha","family":"Kibar","sequence":"additional","affiliation":[{"name":"Azrieli Research Center of CHU 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