{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:41:47Z","timestamp":1740105707784,"version":"3.37.3"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["20Y11911000"],"award-info":[{"award-number":["20Y11911000"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012543","name":"Shanghai Science and Technology Development Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070943","82271068"],"award-info":[{"award-number":["82070943","82271068"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1016\/j.exer.2024.110090","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T06:42:15Z","timestamp":1726209735000},"page":"110090","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis"],"prefix":"10.1016","volume":"248","author":[{"given":"Tianhui","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linghao","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-5733","authenticated-orcid":false,"given":"Yongxiang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.exer.2024.110090_bib1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.ajhg.2009.01.007","article-title":"A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis","volume":"84","author":"Ahram","year":"2009","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s12881-018-0590-0","article-title":"Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family","volume":"19","author":"Alias","year":"2018","journal-title":"BMC Med. Genet."},{"issue":"8","key":"10.1016\/j.exer.2024.110090_bib3","doi-asserted-by":"crossref","first-page":"E1622","DOI":"10.1002\/humu.21305","article-title":"Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients","volume":"31","author":"Aragon-Martin","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2024.110090_bib4","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.734718","article-title":"Cooperative mechanism of ADAMTS\/ADAMTSL and fibrillin-1 in the marfan syndrome and acromelic dysplasias","volume":"12","author":"Arnaud","year":"2021","journal-title":"Front. Genet."},{"issue":"3","key":"10.1016\/j.exer.2024.110090_bib5","doi-asserted-by":"crossref","first-page":"227","DOI":"10.5603\/CJ.2013.0066","article-title":"The role of transforming growth factor-beta in Marfan syndrome","volume":"20","author":"Benke","year":"2013","journal-title":"Cardiol. J."},{"issue":"2","key":"10.1016\/j.exer.2024.110090_bib6","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/eye.2013.274","article-title":"Molecular pathogenesis and management strategies of ectopia lentis","volume":"28","author":"Chandra","year":"2014","journal-title":"Eye"},{"issue":"8","key":"10.1016\/j.exer.2024.110090_bib7","doi-asserted-by":"crossref","first-page":"4889","DOI":"10.1167\/iovs.12-9874","article-title":"A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis","volume":"53","author":"Chandra","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2024.110090_bib8","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/eye.2011.306","article-title":"Alternative diagnoses with ectopia lentis","volume":"26","author":"Chandra","year":"2012","journal-title":"Eye"},{"key":"10.1016\/j.exer.2024.110090_bib9","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.exer.2011.12.007","article-title":"Focus on molecules: ADAMTSL4","volume":"104","author":"Chandra","year":"2012","journal-title":"Exp. Eye Res."},{"issue":"1\u20132","key":"10.1016\/j.exer.2024.110090_bib10","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3109\/13816810.2012.710707","article-title":"Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4","volume":"34","author":"Chandra","year":"2013","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2024.110090_bib11","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/1436834","article-title":"Age differences in axial length, corneal curvature, and corneal astigmatism in marfan syndrome with ectopia lentis","author":"Chen","year":"2018","journal-title":"J Ophthalmol"},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib12","doi-asserted-by":"crossref","first-page":"4079","DOI":"10.1038\/s41598-018-22358-x","article-title":"Corneal curvature, astigmatism, and aberrations in marfan syndrome with lens subluxation: evaluation by pentacam HR system","volume":"8","author":"Chen","year":"2018","journal-title":"Sci. Rep."},{"issue":"7","key":"10.1016\/j.exer.2024.110090_bib13","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1167\/tvst.10.7.3","article-title":"Clinical ocular diagnostic model of marfan syndrome in patients with congenital ectopia lentis by pentacam AXL system","volume":"10","author":"Chen","year":"2021","journal-title":"Transl Vis Sci Technol"},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib14","doi-asserted-by":"crossref","first-page":"2994","DOI":"10.1038\/s41598-021-82586-6","article-title":"Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome","volume":"11","author":"Chen","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2024.110090_bib15","article-title":"Combination of panel-based next-generation sequencing and clinical findings in congenital ectopia lentis diagnosed in Chinese patients","author":"Chen","year":"2021","journal-title":"Am. J. Ophthalmol."},{"issue":"8","key":"10.1016\/j.exer.2024.110090_bib16","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.18240\/ijo.2021.08.13","article-title":"Evaluation of axial length\/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan's syndrome in children","volume":"14","author":"Chen","year":"2021","journal-title":"Int. J. Ophthalmol."},{"issue":"12","key":"10.1016\/j.exer.2024.110090_bib17","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1136\/bjophthalmol-2021-319084","article-title":"Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis","volume":"106","author":"Chen","year":"2021","journal-title":"Br. J. Ophthalmol."},{"issue":"5","key":"10.1016\/j.exer.2024.110090_bib18","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1159\/000517384","article-title":"Analysis of axial length in young patients with marfan syndrome and bilateral ectopia lentis by Z-scores","volume":"64","author":"Chen","year":"2021","journal-title":"Ophthalmic Res."},{"issue":"12","key":"10.1016\/j.exer.2024.110090_bib19","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1002\/humu.24283","article-title":"Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies","volume":"42","author":"Chen","year":"2021","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.exer.2024.110090_bib20","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2021.774640","article-title":"Lens biometry in congenital lens deformities: a swept-source anterior segment oct analysis","volume":"8","author":"Chen","year":"2021","journal-title":"Front. Med."},{"issue":"12","key":"10.1016\/j.exer.2024.110090_bib21","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1002\/humu.24483","article-title":"Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: implications for genotype-phenotype relationships","volume":"43","author":"Chen","year":"2022","journal-title":"Hum. Mutat."},{"issue":"24","key":"10.1016\/j.exer.2024.110090_bib22","first-page":"6958","article-title":"Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation","volume":"24","author":"Collin","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"10","key":"10.1016\/j.exer.2024.110090_bib24","doi-asserted-by":"crossref","first-page":"7000","DOI":"10.1111\/jcmm.14587","article-title":"Anatomically specific reactive oxygen species production participates in Marfan syndrome aneurysm formation","volume":"23","author":"Emrich","year":"2019","journal-title":"J. Cell Mol. Med."},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib25","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1167\/iovs.10-5955","article-title":"ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis","volume":"53","author":"Gabriel","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib26","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3109\/13816810903567604","article-title":"Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis","volume":"31","author":"Greene","year":"2010","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2024.110090_bib27","article-title":"ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis","author":"Guo","year":"2022","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2024.110090_bib28","article-title":"Mechanism of disease: recessive ADAMTSL4 mutations and craniosynostosis with ectopia lentis","volume":"2022","author":"Gustafson","year":"2022","journal-title":"Case Rep Genet"},{"issue":"3","key":"10.1016\/j.exer.2024.110090_bib29","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/age.13178","article-title":"A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract","volume":"53","author":"Hafliger","year":"2022","journal-title":"Anim. Genet."},{"key":"10.1016\/j.exer.2024.110090_bib30","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/978-1-4939-9698-8_16","article-title":"Cell-based interaction analysis of ADAMTS proteases and ADAMTS-like proteins with fibrillin microfibrils","author":"Hubmacher","year":"2020","journal-title":"Methods Mol. Biol."},{"issue":"19","key":"10.1016\/j.exer.2024.110090_bib31","doi-asserted-by":"crossref","first-page":"3137","DOI":"10.1007\/s00018-011-0780-9","article-title":"Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function","volume":"68","author":"Hubmacher","year":"2011","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.exer.2024.110090_bib32","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.matbio.2015.05.004","article-title":"ADAMTS proteins as modulators of microfibril formation and function","volume":"47","author":"Hubmacher","year":"2015","journal-title":"Matrix Biol."},{"issue":"11","key":"10.1016\/j.exer.2024.110090_bib33","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/nrm3454","article-title":"NMD: a multifaceted response to premature translational termination","volume":"13","author":"Kervestin","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.exer.2024.110090_bib34","first-page":"257","article-title":"The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: additional cases, complications, and review of literature","volume":"28","author":"Knight","year":"2022","journal-title":"Mol. Vis."},{"issue":"R2","key":"10.1016\/j.exer.2024.110090_bib35","doi-asserted-by":"crossref","first-page":"R163","DOI":"10.1093\/hmg\/ddr361","article-title":"The ADAMTS(L) family and human genetic disorders","volume":"20","author":"Le Goff","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2024.110090_bib36","first-page":"1017","article-title":"Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis","volume":"20","author":"Li","year":"2014","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2024.110090_bib37","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.matbio.2018.06.002","article-title":"ADAMTS proteins in human disorders","volume":"71\u201372","author":"Mead","year":"2018","journal-title":"Matrix Biol."},{"issue":"10","key":"10.1016\/j.exer.2024.110090_bib38","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1002\/ajmg.a.37157","article-title":"ADAMTSL4-associated isolated ectopia lentis: further patients, novel mutations and a detailed phenotype description","volume":"167A","author":"Neuhann","year":"2015","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.exer.2024.110090_bib39","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.ymgme.2015.11.011","article-title":"A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukhari origin","volume":"117","author":"Reinstein","year":"2016","journal-title":"Mol. Genet. Metabol."},{"year":"1993","series-title":"ADAMTSL4-Related Eye Disorders","author":"R\u00f8dahl","key":"10.1016\/j.exer.2024.110090_bib40"},{"issue":"6","key":"10.1016\/j.exer.2024.110090_bib41","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1080\/13816810.2017.1309552","article-title":"ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians","volume":"38","author":"van Bysterveldt","year":"2017","journal-title":"Ophthalmic Genet."},{"issue":"20","key":"10.1016\/j.exer.2024.110090_bib42","doi-asserted-by":"crossref","first-page":"4333","DOI":"10.1016\/j.molcel.2021.08.008","article-title":"Engineered miniature CRISPR-Cas system for mammalian genome regulation and editing","volume":"81","author":"Xu","year":"2021","journal-title":"Mol. Cell"},{"key":"10.1016\/j.exer.2024.110090_bib43","article-title":"Cysteine substitution and calciumbinding mutations in FBN1 cbEGF-like domains are associated with severe ocular involvement in patients with congenital ectopia lentis","volume":"9","author":"Zhang","year":"2021","journal-title":"Front. Cell Dev. Biol."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483524003117?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483524003117?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T23:55:22Z","timestamp":1730332522000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483524003117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":42,"alternative-id":["S0014483524003117"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2024.110090","relation":{},"ISSN":["0014-4835"],"issn-type":[{"type":"print","value":"0014-4835"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2024.110090","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"110090"}}