{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T10:19:59Z","timestamp":1776248399790,"version":"3.50.1"},"reference-count":62,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T00:00:00Z","timestamp":1603238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Chinese University of Hong Kong Direct Grant","award":["4054284"],"award-info":[{"award-number":["4054284"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770903"],"award-info":[{"award-number":["81770903"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Key R&amp;D Program of China","award":["2016YFE0204700"],"award-info":[{"award-number":["2016YFE0204700"]}]},{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["14167017"],"award-info":[{"award-number":["14167017"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["14112618"],"award-info":[{"award-number":["14112618"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Human Genome Research Institute of US","award":["HG003143"],"award-info":[{"award-number":["HG003143"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Previously, we identified RAD21R450C from a peripheral sclerocornea pedigree. Injection of this rad21 variant mRNA into Xenopus laevis embryos disrupted the organization of corneal stroma fibrils. To understand the mechanisms of RAD21-mediated corneal stroma defects, gene expression and chromosome conformation analysis were performed using cells from family members affected by peripheral sclerocornea. Both gene expression and chromosome conformation of cell adhesion genes were affected in cells carrying the heterozygous rad21 variant. Since cell migration is essential in early embryonic development and sclerocornea is a congenital disease, we studied neural crest migration during cornea development in X. laevis embryos. In X. laevis embryos injected with rad21 mutant mRNA, neural crest migration was disrupted, and the number of neural crest-derived periocular mesenchymes decreased significantly in the corneal stroma region. Our data indicate that the RAD21R450C variant contributes to peripheral sclerocornea by modifying chromosome conformation and gene expression, therefore disturbing neural crest cell migration, which suggests RAD21 plays a key role in corneal stroma development.<\/jats:p>","DOI":"10.3390\/ijms21207807","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T10:27:58Z","timestamp":1603362478000},"page":"7807","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["rad21 Is Involved in Corneal Stroma Development by Regulating Neural Crest Migration"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4308-3729","authenticated-orcid":false,"given":"Bi Ning","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University &amp; Shandong Academy of Medical Sciences, Qingdao 266071, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8359-6732","authenticated-orcid":false,"given":"Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Program in Systems Biology, Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, 368 Plantation Street, Worcester, MA 01605, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qichen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pui Ying","family":"Leung","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengdong","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas Chi Bun","family":"Wong","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clement C.","family":"Tham","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun On","family":"Chan","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi Pui","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li Jia","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Job","family":"Dekker","sequence":"additional","affiliation":[{"name":"Program in Systems Biology, Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, 368 Plantation Street, Worcester, MA 01605, USA"},{"name":"Howard Hughes Medical Institute, 4000 Jones Bridge Road, Chevy Chase, MD 20815-6789, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhao","sequence":"additional","affiliation":[{"name":"Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong, China"},{"name":"Kunming Institute of Zoology Chinese Academy of Sciences-the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Kunming 650223, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2903-3247","authenticated-orcid":false,"given":"Wai Kit","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Joint Shantou International Eye Center, Shantou University and the Chinese University of Hong Kong, Shantou 515041, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8781524","DOI":"10.1155\/2019\/8781524","article-title":"A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree","volume":"2019","author":"Zhang","year":"2019","journal-title":"Dis. 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