{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:27Z","timestamp":1791928827511,"version":"4.3.4"},"reference-count":31,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"5","license":[{"start":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T00:00:00Z","timestamp":1685491200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2023,5,31]]},"DOI":"10.1167\/iovs.64.5.29","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T11:30:50Z","timestamp":1685532650000},"page":"29","source":"Crossref","is-referenced-by-count":17,"title":["Z\n                    <i>nf469<\/i>\n                    Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome"],"prefix":"10.1167","volume":"64","author":[{"given":"Jing","family":"Bao","sequence":"first","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoning","family":"Yu","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiyuan","family":"Ping","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingchao","family":"Shentu","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang, China"},{"name":"http:\/\/orcid.org\/0000-0002-8563-7419"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zou","sequence":"additional","affiliation":[{"name":"Eye Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"Zhejiang Provincial Key Lab of Ophthalmology, Hangzhou, Zhejiang, China"},{"name":"The Institute of Translational Medicine, Zhejiang University, Hangzhou, Zhejiang, China"},{"name":"https:\/\/orcid.org\/0000-0002-8884-9978"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/1750-1172-8-68","article-title":"Brittle cornea syndrome: recognition, molecular diagnosis and management","volume":"8","author":"Burkitt Wright","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1002\/humu.v42.6","article-title":"More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome","volume":"42","author":"Dhooge","year":"2021","journal-title":"Human Mutation"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1186\/1471-2148-8-176","article-title":"Evolution of C2H2-zinc finger genes and subfamilies in mammals: species-specific duplication and loss of clusters, genes and effector domains","volume":"8","author":"Tadepally","year":"2008","journal-title":"BMC Evol Biol"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"e1000947","DOI":"10.1371\/journal.pgen.1000947","article-title":"Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness","volume":"6","author":"Lu","year":"2010","journal-title":"PLoS Genet"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"4304","DOI":"10.1093\/hmg\/ddq349","article-title":"New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8","volume":"19","author":"Vitart","year":"2010","journal-title":"Hum Mol Genet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1093\/hmg\/ddq511","article-title":"Collagen-related genes influence the glaucoma risk factor, central corneal thickness","volume":"20","author":"Vithana","year":"2011","journal-title":"Hum Mol Genet"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1007\/s00439-012-1201-3","article-title":"Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness","volume":"131","author":"Hoehn","year":"2012","journal-title":"Hum Genet"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"2435","DOI":"10.1167\/iovs.13-11692","article-title":"A genome-wide association study of central corneal thickness in Latinos","volume":"54","author":"Gao","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"5629","DOI":"10.1167\/iovs.14-14532","article-title":"Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus","volume":"55","author":"Vincent","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"5035","DOI":"10.1093\/hmg\/ddw172","article-title":"Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos","volume":"25","author":"Gao","year":"2016","journal-title":"Hum Mol Genet"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1080\/02713683.2017.1325910","article-title":"Novel zinc finger protein gene 469 (ZNF469) variants in advanced keratoconus","volume":"42","author":"Yildiz","year":"2017","journal-title":"Curr Eye Res"},{"key":"bib12","first-page":"296","article-title":"Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population","volume":"23","author":"Yu","year":"2017","journal-title":"Mol Vis"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1097\/ICO.0000000000002002","article-title":"Corneal perforation after corneal cross-linking in keratoconus associated with potentially pathogenic ZNF469 mutations","volume":"38","author":"Zhang","year":"2019","journal-title":"Cornea"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1167\/iovs.14-15792","article-title":"Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus","volume":"56","author":"Davidson","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1111\/aos.2016.94.issue-3","article-title":"Evidence against ZNF469 being causative for keratoconus in Polish patients","volume":"94","author":"Karolak","year":"2016","journal-title":"Acta Ophthalmol"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.ymgme.2013.04.014","article-title":"ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components","volume":"109","author":"Rohrbach","year":"2013","journal-title":"Mol Genet Metab"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1016\/j.ajhg.2008.04.001","article-title":"Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome","volume":"82","author":"Abu","year":"2008","journal-title":"Am J Hum Genet"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"dmm049175","DOI":"10.1242\/dmm.049175","article-title":"A mouse model of brittle cornea syndrome caused by mutation in Zfp469","volume":"14","author":"Stanton","year":"2021","journal-title":"Dis Model Mech"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"3323","DOI":"10.1080\/15548627.2021.1872188","article-title":"Rapamycin relieves the cataract caused by ablation of Gja8b through stimulating autophagy in zebrafish","volume":"17","author":"Ping","year":"2021","journal-title":"Autophagy"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"4341","DOI":"10.1167\/iovs.05-1611","article-title":"The zebrafish cornea: structure and development","volume":"47","author":"Zhao","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/B978-0-12-384878-9.00007-8","article-title":"Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio","volume":"100","author":"Bibliowicz","year":"2011","journal-title":"Prog Mol Biol Transl Sci"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"2254","DOI":"10.1002\/dvdy.v238:9","article-title":"Early lens development in the zebrafish: a three-dimensional time-lapse analysis","volume":"238","author":"Greiling","year":"2009","journal-title":"Dev Dyn"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/j.jaapos.2014.06.013","article-title":"Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome","volume":"18","author":"Ramappa","year":"2014","journal-title":"J AAPOS"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"108137","DOI":"10.1016\/j.exer.2020.108137","article-title":"Composition, structure and function of the corneal stroma","volume":"198","author":"Espana","year":"2020","journal-title":"Exp Eye Res"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1111\/aos.2008.86.issue-6","article-title":"Formation of stromal collagen fibrils and proteoglycans in the developing zebrafish cornea","volume":"86","author":"Akhtar","year":"2008","journal-title":"Acta Ophthalmol"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.preteyeres.2004.04.002","article-title":"Collagens and collagen-related matrix components in the human and mouse eye","volume":"23","author":"Ihanamaki","year":"2004","journal-title":"Prog Retin Eye Res"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"E8037","DOI":"10.1073\/pnas.1722200115","article-title":"Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies","volume":"115","author":"Gistelinck","year":"2018","journal-title":"Proc Natl Acad Sci USA"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/j.ajhg.2011.05.007","article-title":"Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance","volume":"88","author":"Burkitt Wright","year":"2011","journal-title":"Am J Hum Genet"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"e1002711","DOI":"10.1371\/journal.pgen.1002711","article-title":"Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone","volume":"8","author":"Galli","year":"2012","journal-title":"PLoS Genet"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1089\/omi.2019.0143","article-title":"Mapping keratoconus molecular substrates by multiplexed high-resolution proteomics of unpooled corneas","volume":"23","author":"Shinde","year":"2019","journal-title":"OMICS"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.gene.2012.09.022","article-title":"Identification of a novel ZNF469 mutation in a large family with Ehlers\u2013Danlos phenotype","volume":"511","author":"Al-Owain","year":"2012","journal-title":"Gene"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2785662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:42Z","timestamp":1791927102000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2785662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,31]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.64.5.29","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5,31]]}}}