{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:24:36Z","timestamp":1787009076783,"version":"build-2736575974"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T00:00:00Z","timestamp":1707004800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Natural Science and Engineering Research Council"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["CIHR-177940"],"award-info":[{"award-number":["CIHR-177940"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["165939"],"award-info":[{"award-number":["165939"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mutations in the Chromodomain helicase DNA-binding protein 7 \u2013 coding gene (CHD7) cause CHARGE syndrome (CS). Although craniofacial and skeletal abnormalities are major features of CS patients, the role of CHD7 in bone and cartilage development remain largely unexplored. Here, using a zebrafish (Danio rerio) CS model, we show that chd7-\/- larvae display abnormal craniofacial cartilage development and spinal deformities. The craniofacial and spine defects are accompanied by a marked reduction of bone mineralization. At the molecular level, we show that these phenotypes are associated with significant reduction in the expression levels of osteoblast differentiation markers. Additionally, we detected a marked depletion of collagen 2\u03b11 in the cartilage of craniofacial regions and vertebrae, along with significantly reduced number of chondrocytes. Chondrogenesis defects are at least in part due to downregulation of htr2b, which we found to be also dysregulated in human cells derived from an individual with CHD7 mutation-positive CS. Overall, this study thus unveils an essential role for CHD7 in cartilage and bone development, with potential clinical relevance for the craniofacial defects associated with CS.<\/jats:p>","DOI":"10.1093\/jbmr\/zjae024","type":"journal-article","created":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T16:45:35Z","timestamp":1707065135000},"page":"498-512","source":"Crossref","is-referenced-by-count":7,"title":["CHD7 regulates craniofacial cartilage development via controlling HTR2B expression"],"prefix":"10.1093","volume":"39","author":[{"given":"Maximilian","family":"Breuer","sequence":"first","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Rummler","sequence":"additional","affiliation":[{"name":"Research Centre , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"},{"name":"McGill University , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaskaran","family":"Singh","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Maher","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"},{"name":"Research Centre , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"},{"name":"McGill University , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"},{"name":"D\u00e9partement de Neurosciences, Universit\u00e9 de Montr\u00e9al , Montr\u00e9al, QC H3C 3J7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Zaouter","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Jamadagni","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Pilon","sequence":"additional","affiliation":[{"name":"Molecular Genetics of Development Laboratory , D\u00e9partment des Sciences Biologiques, , Montr\u00e9al, QC H3C 3P8 , Canada"},{"name":"Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al (UQAM) , D\u00e9partment des Sciences Biologiques, , Montr\u00e9al, QC H3C 3P8 , Canada"},{"name":"Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al (UQAM) , Montr\u00e9al, QC H3C 3P8 , 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":"Research Centre , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"},{"name":"McGill University , Shriners Hospital for Children-Canada, Department of Biological and Biomedical Engineering, Faculty of Dental Medicine and Oral Health Sciences, , Montreal H4A 0A9 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunmoogum A","family":"Patten","sequence":"additional","affiliation":[{"name":"Institut National de la Recherche Scientifique (INRS) \u2013 Centre Armand Frappier Sant\u00e9 Biotechnologie , Laval, QC H7V 1B7 , Canada"},{"name":"D\u00e9partement de Neurosciences, Universit\u00e9 de Montr\u00e9al , Montr\u00e9al, QC H3C 3J7 , Canada"},{"name":"Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Universit\u00e9 du Qu\u00e9bec \u00e0 Montr\u00e9al (UQAM) , Montr\u00e9al, QC H3C 3P8 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,2,4]]},"reference":[{"issue":"9","key":"2024050213191725100_ref1","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat Genet"},{"issue":"3","key":"2024050213191725100_ref2","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S0022-3476(79)80513-2","article-title":"Choanal atresia and associated multiple anomalies","volume":"95","author":"Hall","year":"1979","journal-title":"J Pediatr"},{"issue":"2","key":"2024050213191725100_ref3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-A 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