{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:37:49Z","timestamp":1790257069667,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T00:00:00Z","timestamp":1566950400000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004479","name":"Natural Science Foundation of Jiangxi Province","doi-asserted-by":"publisher","award":["20151BAB215015"],"award-info":[{"award-number":["20151BAB215015"]}],"id":[{"id":"10.13039\/501100004479","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31400988"],"award-info":[{"award-number":["31400988"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81160144"],"award-info":[{"award-number":["81160144"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81760216"],"award-info":[{"award-number":["81760216"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31171044"],"award-info":[{"award-number":["31171044"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Experimental Path"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>CHARGE syndrome is a congenital disorder with multiple malformations in the craniofacial structures, and cardiovascular and genital systems, which are mainly affected by neural crest defects caused by loss\u2010of\u2010function mutations within chromodomain helicase DNA\u2010binding protein 7 (<jats:italic>CHD7<\/jats:italic>). However, many patients with CHARGE syndrome test negative for <jats:italic>CHD7<\/jats:italic>. Semaphorin 3E (<jats:italic>sema3E<\/jats:italic>) is a gene reported to be mutated in patients with CHARGE syndrome. However, its role in the pathogenesis of CHARGE syndrome has not been verified experimentally. Here, we report that the knockdown of <jats:italic>sema3E<\/jats:italic> results in severe craniofacial malformations, including small eyes, defective cartilage and an abnormal number of otoliths in zebrafish embryos, which resemble the major features of CHARGE syndrome. Further analysis reveals that the migratory cranial neural crest cells are scattered in the region of the hindbrain, and the postmigratory neural crest cells are reduced in the pharyngeal arches upon <jats:italic>sema3E<\/jats:italic> knockdown. Notably, immunostaining and time\u2010lapse imaging analyses of a neural crest cell\u2010labelled transgenic fish line, <jats:italic>sox10<\/jats:italic>:EGFP, show that the migration of cranial neural crest cells is severely impaired, and many of these cells are misrouted upon <jats:italic>sema3E<\/jats:italic> knockdown. Furthermore, the <jats:italic>sox10\u2010<\/jats:italic>expressing cranial neural crest cells are scattered in <jats:italic>chd7<\/jats:italic> homozygous mutants, which phenocopied the phenotype in <jats:italic>sema3E<\/jats:italic> morphants. Overexpression of <jats:italic>sema3E<\/jats:italic> rescues the phenotype of scattered cranial neural crest cells in <jats:italic>chd7<\/jats:italic> homozygotes, indicating that <jats:italic>chd7<\/jats:italic> may control the expression of <jats:italic>sema3E<\/jats:italic> to regulate cranial neural crest cell migration. Collectively, our data demonstrate that <jats:italic>sema3E<\/jats:italic> is involved in the pathogenesis of CHARGE syndrome by modulating cranial neural crest cell migration.<\/jats:p>","DOI":"10.1111\/iep.12331","type":"journal-article","created":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T03:30:02Z","timestamp":1567049402000},"page":"234-243","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Sema3E is required for migration of cranial neural crest cells in zebrafish: Implications for the pathogenesis of CHARGE syndrome"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8304-1083","authenticated-orcid":false,"given":"Zhi\u2010Zhi","family":"Liu","sequence":"first","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"},{"name":"School of Life Sciences Nanchang University Nanchang China"},{"name":"Jiangxi Provincial Collaborative Innovation Center for Cardiovascular, Digestive and Neuropsychiatric Diseases Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Guo","sequence":"additional","affiliation":[{"name":"The First Clinical Medical College of Nanchang University Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Lu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Jiang Xi Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenfeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofeng","family":"Fu","sequence":"additional","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianbing","family":"Yao","sequence":"additional","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong A.","family":"Xu","sequence":"additional","affiliation":[{"name":"Lab of Neural Development and Diseases Institute of Life Science Nanchang University Nanchang China"},{"name":"School of Life Sciences Nanchang University Nanchang China"},{"name":"Jiangxi Provincial Collaborative Innovation Center for Cardiovascular, Digestive and Neuropsychiatric Diseases Nanchang 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