{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:30:39Z","timestamp":1791199839972,"version":"4.2.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2020-015"],"award-info":[{"award-number":["2020-015"]}],"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":["81770955"],"award-info":[{"award-number":["81770955"]}],"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":["82000929"],"award-info":[{"award-number":["82000929"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008050","name":"Shanghai Science and Technology University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heliyon"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.heliyon.2024.e27052","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T22:41:04Z","timestamp":1708728064000},"page":"e27052","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus"],"prefix":"10.1016","volume":"10","author":[{"given":"Qinghong","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuejun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoliao","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingtao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.heliyon.2024.e27052_bib1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1320360303","article-title":"Syndrome of brittle cornea, blue sclera, and joint hyperextensibility","volume":"36","author":"Zlotogora","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.heliyon.2024.e27052_bib2","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/ajmg.a.20326","article-title":"Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature","volume":"124a","author":"Al-Hussain","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.heliyon.2024.e27052_bib3","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib4","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1002\/humu.24199","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":"Hum. Mutat."},{"key":"10.1016\/j.heliyon.2024.e27052_bib5","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng.2506","article-title":"Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus","volume":"45","author":"Lu","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.heliyon.2024.e27052_bib7","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s40662-016-0047-5","article-title":"Genetics in Keratoconus: where are we?","volume":"3","author":"Bykhovskaya","year":"2016","journal-title":"Eye Vis (Lond)"},{"key":"10.1016\/j.heliyon.2024.e27052_bib8","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s40123-018-0144-8","article-title":"Genetic Aspects of keratoconus: a literature review exploring potential genetic contributions and possible genetic relationships with comorbidities","volume":"7","author":"Loukovitis","year":"2018","journal-title":"Ophthalmol Ther"},{"key":"10.1016\/j.heliyon.2024.e27052_bib9","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib10","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib11","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1080\/13816810.2021.2015788","article-title":"A novel variant in TGFBI causes keratoconus in a two-generation Chinese family","volume":"43","author":"Lin","year":"2022","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.heliyon.2024.e27052_bib12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.heliyon.2024.e27052_bib13","first-page":"14","article-title":"A mouse model of brittle cornea syndrome caused by mutation in Zfp469","author":"Stanton","year":"2021","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.heliyon.2024.e27052_bib14","unstructured":"Pantherdb.org. Available online: http:\/\/www.pantherdb.org\/tools\/csnpScore.do (accessed on 2 December 2022)."},{"key":"10.1016\/j.heliyon.2024.e27052_bib15","doi-asserted-by":"crossref","first-page":"5527","DOI":"10.1093\/hmg\/ddu253","article-title":"Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus","volume":"23","author":"Lechner","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.heliyon.2024.e27052_bib16","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib17","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib18","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1016\/0092-8674(86)90817-2","article-title":"A conserved family of nuclear proteins containing structural elements of the finger protein encoded by Kr\u00fcppel, a Drosophila segmentation gene","volume":"47","author":"Schuh","year":"1986","journal-title":"Cell"},{"key":"10.1016\/j.heliyon.2024.e27052_bib19","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0959-440X(00)00167-6","article-title":"Zinc finger proteins: new insights into structural and functional diversity","volume":"11","author":"Laity","year":"2001","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.heliyon.2024.e27052_bib20","doi-asserted-by":"crossref","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. Metabol."},{"key":"10.1016\/j.heliyon.2024.e27052_bib21","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib22","doi-asserted-by":"crossref","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":"10.1016\/j.heliyon.2024.e27052_bib23","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/S0014-4835(88)80047-2","article-title":"Keratoconus: I. Biochemical studies","volume":"46","author":"Critchfield","year":"1988","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.heliyon.2024.e27052_bib24","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1097\/00003226-199705000-00016","article-title":"Abnormalities of the extracellular matrix in keratoconus corneas","volume":"16","author":"Kenney","year":"1997","journal-title":"Cornea"}],"container-title":["Heliyon"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405844024030834?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405844024030834?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:47:30Z","timestamp":1761785250000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2405844024030834"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S2405844024030834"],"URL":"https:\/\/doi.org\/10.1016\/j.heliyon.2024.e27052","relation":{},"ISSN":["2405-8440"],"issn-type":[{"value":"2405-8440","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus","name":"articletitle","label":"Article Title"},{"value":"Heliyon","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.heliyon.2024.e27052","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"e27052"}}