{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:59:48Z","timestamp":1791928788516,"version":"4.3.4"},"reference-count":43,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"13","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"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":[[2022,12,1]]},"DOI":"10.1167\/iovs.63.13.1","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T11:31:14Z","timestamp":1669894274000},"page":"1","source":"Crossref","is-referenced-by-count":5,"title":["Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts"],"prefix":"10.1167","volume":"63","author":[{"given":"Xiao-Dan","family":"Hao","sequence":"first","affiliation":[{"name":"Institute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Zhi","family":"Yao","sequence":"additional","affiliation":[{"name":"Institute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-Ge","family":"Xu","sequence":"additional","affiliation":[{"name":"Institute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Dong","sequence":"additional","affiliation":[{"name":"Institute for Translational Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hua","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Inspection, Medical Faculty of Qingdao University, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Institute of Shandong First Medical University, Eye Hospital of Shandong First Medical University (Shandong Eye Hospital), Jinan, China"},{"name":"State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Qingdao, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0039-6257(97)00119-7","article-title":"Keratoconus","volume":"42","author":"Rabinowitz","year":"1998","journal-title":"Surv Ophthalmol"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.jtos.2020.03.006","article-title":"The keratoconus enigma: A review with emphasis on pathogenesis","volume":"18","author":"Ferrari","year":"2020","journal-title":"Ocul Surf"},{"key":"bib3","first-page":"891","article-title":"Expert consensus on diagnosis and treatment of keratoconus in China (2019)","volume":"55","author":"Keratology Group OBoCA","year":"2019","journal-title":"Chinese J Ophthalmol"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.survophthal.2017.06.009","article-title":"A review of keratoconus: Diagnosis, pathophysiology, and genetics","volume":"62","author":"Mas Tur","year":"2017","journal-title":"Surv Ophthalmol"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1080\/13816810.2017.1393831","article-title":"A new perspective on the genetics of keratoconus: why have we not been more successful?","volume":"39","author":"Valgaeren","year":"2018","journal-title":"Ophthalmic Genet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"770138","DOI":"10.3389\/fmed.2021.770138","article-title":"Systematically Displaying the Pathogenesis of Keratoconus via Multi-Level Related Gene Enrichment-Based Review","volume":"8","author":"Hao","year":"2022","journal-title":"Front Med (Lausanne)"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/355637a0","article-title":"An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome","volume":"355","author":"Baldwin","year":"1992","journal-title":"Nature"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature"},{"key":"bib9","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":"bib10","doi-asserted-by":"crossref","first-page":"2545","DOI":"10.4103\/ijo.IJO_325_20","article-title":"Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation","volume":"68","author":"Selina","year":"2020","journal-title":"Indian J Ophthalmol"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.ajo.2020.04.012","article-title":"Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome","volume":"217","author":"Waszczykowska","year":"2020","journal-title":"Am J Ophthalmol"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/s12881-016-0314-2","article-title":"Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred","volume":"17","author":"Gradstein","year":"2016","journal-title":"BMC Med Genet"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1016\/j.ajhg.2011.09.014","article-title":"Mutation altering the miR-184 seed region causes familial keratoconus with cataract","volume":"89","author":"Hughes","year":"2011","journal-title":"Am J Hum Genet"},{"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":"5266","DOI":"10.1167\/iovs.13-12035","article-title":"Mutational analysis of MIR184 in sporadic keratoconus and myopia","volume":"54","author":"Lechner","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1007\/s00417-017-3699-5","article-title":"Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy","volume":"255","author":"Du","year":"2017","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.clae.2014.02.001","article-title":"A case of concomitant keratoconus and granular corneal dystrophy type II","volume":"37","author":"Rho","year":"2014","journal-title":"Cont Lens Anterior Eye"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1159\/000367937","article-title":"First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and Fuchs' endothelial corneal dystrophy","volume":"5","author":"Mazzotta","year":"2014","journal-title":"Case Rep Ophthalmol"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"13570","DOI":"10.1038\/s41598-017-13162-0","article-title":"De novo mutations of TUBA3D are associated with keratoconus","volume":"7","author":"Hao","year":"2017","journal-title":"Sci Rep"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1093\/molbev\/msy096","article-title":"Molecular Evolutionary Genetics Analysis across Computing Platforms","volume":"35","author":"Kumar","year":"2018","journal-title":"Mol Biol Evol"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"671","DOI":"10.18240\/ijo","article-title":"Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease","volume":"13","author":"Hao","year":"2020","journal-title":"Int J Ophthalmol"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"108485","DOI":"10.1016\/j.exer.2021.108485","article-title":"AQP5 regulates vimentin expression via miR-124-3p.1 to protect lens transparency","volume":"205","author":"Tang","year":"2021","journal-title":"Exp Eye Res"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"1616","DOI":"10.3390\/cells10071616","article-title":"Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding","volume":"10","author":"Qiang","year":"2021","journal-title":"Cells"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1016\/j.survophthal.2022.03.005","article-title":"Current management of infantile cataracts","volume":"67","author":"Lenhart","year":"2022","journal-title":"Surv Ophthalmol"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"108662","DOI":"10.1016\/j.exer.2021.108662","article-title":"Inherited cataracts: Genetic mechanisms and pathways new and old","volume":"209","author":"Shiels","year":"2021","journal-title":"Exp Eye Res"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"11581","DOI":"10.18632\/oncotarget.v9i14","article-title":"CSA and CSB play a role in the response to DNA breaks","volume":"9","author":"Pascucci","year":"2018","journal-title":"Oncotarget"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.1039\/c8pp00182k","article-title":"Solar UV damage to cellular DNA: from mechanisms to biological effects","volume":"17","author":"Mullenders","year":"2018","journal-title":"Photochem Photobiol Sci"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1167\/tvst.8.4.10","article-title":"Quantification of Double Stranded DNA Breaks and Telomere Length as Proxies for Corneal Damage and Replicative Stress in Human Keratoconus Corneas","volume":"8","author":"Wisse","year":"2019","journal-title":"Transl Vis Sci Technol"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1167\/iovs.04-1395","article-title":"Accumulation of mitochondrial DNA damage in keratoconus corneas","volume":"46","author":"Atilano","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"e0165580","DOI":"10.1371\/journal.pone.0165580","article-title":"Decreased Integrity, Content, and Increased Transcript Level of Mitochondrial DNA Are Associated with Keratoconus","volume":"11","author":"Hao","year":"2016","journal-title":"PLoS One"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"102673","DOI":"10.1016\/j.dnarep.2019.102673","article-title":"Inflammation-induced DNA damage, mutations and cancer","volume":"83","author":"Kay","year":"2019","journal-title":"DNA Repair (Amst)"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1038\/s41586-021-03906-4","article-title":"Structural basis of human transcription-DNA repair coupling","volume":"598","author":"Kokic","year":"2021","journal-title":"Nature"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"9943","DOI":"10.1093\/nar\/gkaa688","article-title":"The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair","volume":"48","author":"Gonzalez-Corrochano","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"2182","DOI":"10.3390\/ijms21062182","article-title":"XPA: DNA Repair Protein of Significant Clinical Importance","volume":"21","author":"Borsz\u00e9kov\u00e1 Pulzov\u00e1","year":"2020","journal-title":"Int J Mol Sci"},{"key":"bib38","first-page":"4478","article-title":"Keratoconus: the possible involvement of inflammatory cytokines in its pathogenesis. An experimental study and review of the literature","volume":"25","author":"Taurone","year":"2021","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"1225","DOI":"10.1007\/s00417-020-05058-z","article-title":"NF-kappaB, iNOS, IL-6, and collagen 1 and 5 expression in healthy and keratoconus corneal fibroblasts after 0.1% riboflavin UV-A illumination","volume":"259","author":"Berger","year":"2021","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"3951","DOI":"10.1167\/iovs.06-0193","article-title":"The unfolded protein response in lens epithelial cells from galactosemic rat lenses","volume":"47","author":"Mulhern","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.exer.2006.01.033","article-title":"Role of the unfolded protein response (UPR) in cataract formation","volume":"83","author":"Ikesugi","year":"2006","journal-title":"Exp Eye Res"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.preteyeres.2017.08.003","article-title":"Age-related cataracts: Role of unfolded protein response, Ca(2+) mobilization, epigenetic DNA modifications, and loss of Nrf2\/Keap1 dependent cytoprotection","volume":"60","author":"Periyasamy","year":"2017","journal-title":"Prog Retin Eye Res"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1167\/iovs.63.10.1","article-title":"Deficiency of JAM-C Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses","volume":"63","author":"Li","year":"2022","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib25","volume-title":"Cockayne Syndrome","author":"Laugel","year":"1993"}],"container-title":["Investigative Opthalmology & Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2783886","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:30Z","timestamp":1791927090000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2783886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":43,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2022,12,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.63.13.1","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12,1]]}}}