{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T06:49:40Z","timestamp":1772520580586,"version":"3.50.1"},"reference-count":37,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.gimo.2023.100839","type":"journal-article","created":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T01:24:01Z","timestamp":1698801841000},"page":"100839","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma"],"prefix":"10.1016","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5531-7409","authenticated-orcid":false,"given":"Yukihiro","family":"Shiga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuki","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeto","family":"Maekawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kota","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaroh","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhide","family":"Kawase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kana","family":"Tokumo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiaki","family":"Kiuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sotaro","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Iwata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji M.","family":"Nishiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Nakazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"18","key":"10.1016\/j.gimo.2023.100839_bib1","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1001\/jama.2014.3192","article-title":"The pathophysiology and treatment of glaucoma: a review","volume":"311","author":"Weinreb","year":"2014","journal-title":"JAMA"},{"issue":"11","key":"10.1016\/j.gimo.2023.100839_bib2","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1016\/j.ophtha.2014.05.013","article-title":"Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis","volume":"121","author":"Tham","year":"2014","journal-title":"Ophthalmology"},{"issue":"10","key":"10.1016\/j.gimo.2023.100839_bib3","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1001\/archopht.120.10.1268","article-title":"Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial","volume":"120","author":"Heijl","year":"2002","journal-title":"Arch Ophthalmol"},{"issue":"4","key":"10.1016\/j.gimo.2023.100839_bib4","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0002-9394(98)00223-2","article-title":"Comparison of glaucomatous progression between untreated patients with normal-tension glaucoma and patients with therapeutically reduced intraocular pressures. Collaborative normal-tension glaucoma study group","volume":"126","year":"1998","journal-title":"Am J Ophthalmol"},{"issue":"9","key":"10.1016\/j.gimo.2023.100839_bib5","first-page":"1641","article-title":"The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study","volume":"111","author":"Iwase","year":"2004","journal-title":"Ophthalmology"},{"issue":"2","key":"10.1016\/j.gimo.2023.100839_bib6","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0161-6420(98)92665-3","article-title":"Prevalence of glaucoma and intraocular pressure distribution in a defined population. The egna-Neumarkt study","volume":"105","author":"Bonomi","year":"1998","journal-title":"Ophthalmology"},{"issue":"10","key":"10.1016\/j.gimo.2023.100839_bib7","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1016\/S0161-6420(92)31774-9","article-title":"Prevalence of glaucoma. The Beaver Dam eye study","volume":"99","author":"Klein","year":"1992","journal-title":"Ophthalmology"},{"issue":"5","key":"10.1016\/j.gimo.2023.100839_bib8","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/sj.eye.6700674","article-title":"Prevalence of glaucoma in an African population","volume":"18","author":"Ntim-Amponsah","year":"2004","journal-title":"Eye (Lond)"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1001\/archopht.1994.01090130079022","article-title":"Family history and risk of primary open angle glaucoma. The Baltimore eye survey","volume":"112","author":"Tielsch","year":"1994","journal-title":"Arch Ophthalmol"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib10","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1167\/iovs.03-0516","article-title":"Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study","volume":"45","author":"Klein","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib11","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1038\/s41467-020-20851-4","article-title":"Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries","volume":"12","author":"Gharahkhani","year":"2021","journal-title":"Nat Commun"},{"issue":"2","key":"10.1016\/j.gimo.2023.100839_bib12","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/s41588-019-0556-y","article-title":"Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression","volume":"52","author":"Craig","year":"2020","journal-title":"Nat Genet"},{"key":"10.1016\/j.gimo.2023.100839_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2019.107702","article-title":"Mendelian genes in primary open angle glaucoma","volume":"186","author":"Sears","year":"2019","journal-title":"Exp Eye Res"},{"issue":"4","key":"10.1016\/j.gimo.2023.100839_bib14","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.exer.2008.08.011","article-title":"Glaucoma-associated myocilin: a better understanding but much more to learn","volume":"88","author":"Resch","year":"2009","journal-title":"Exp Eye Res"},{"issue":"5","key":"10.1016\/j.gimo.2023.100839_bib15","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1001\/jamaophthalmol.2019.0005","article-title":"Myocilin mutations in patients with normal-tension glaucoma","volume":"137","author":"Alward","year":"2019","journal-title":"JAMA Ophthalmol"},{"issue":"R1","key":"10.1016\/j.gimo.2023.100839_bib16","doi-asserted-by":"crossref","first-page":"R21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"5557","key":"10.1016\/j.gimo.2023.100839_bib17","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1126\/science.1066901","article-title":"Adult-onset primary open-angle glaucoma caused by mutations in optineurin","volume":"295","author":"Rezaie","year":"2002","journal-title":"Science"},{"issue":"12","key":"10.1016\/j.gimo.2023.100839_bib18","doi-asserted-by":"crossref","first-page":"2482","DOI":"10.1093\/hmg\/ddr123","article-title":"Copy number variations on chromosome 12q14 in patients with normal tension glaucoma","volume":"20","author":"Fingert","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"17","key":"10.1016\/j.gimo.2023.100839_bib19","doi-asserted-by":"crossref","first-page":"3559","DOI":"10.1093\/hmg\/ddt210","article-title":"Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma","volume":"22","author":"Minegishi","year":"2013","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib20","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.exer.2011.12.021","article-title":"Confirmation of TBK1 duplication in normal tension glaucoma","volume":"96","author":"Kawase","year":"2012","journal-title":"Exp Eye Res"},{"issue":"4","key":"10.1016\/j.gimo.2023.100839_bib21","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1097\/00061198-200408000-00007","article-title":"Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population","volume":"13","author":"Fuse","year":"2004","journal-title":"J\u00a0Glaucoma"},{"key":"10.1016\/j.gimo.2023.100839_bib22","first-page":"413","article-title":"Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma","volume":"14","author":"Mengkegale","year":"2008","journal-title":"Mol Vis"},{"issue":"5","key":"10.1016\/j.gimo.2023.100839_bib23","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"},{"issue":"D1","key":"10.1016\/j.gimo.2023.100839_bib24","doi-asserted-by":"crossref","first-page":"D536","DOI":"10.1093\/nar\/gkaa1034","article-title":"jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population","volume":"49","author":"Tadaka","year":"2021","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"10.1016\/j.gimo.2023.100839_bib25","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0002-9394(03)00577-4","article-title":"Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma","volume":"136","author":"Alward","year":"2003","journal-title":"Am J Ophthalmol"},{"issue":"W1","key":"10.1016\/j.gimo.2023.100839_bib26","doi-asserted-by":"crossref","first-page":"W350","DOI":"10.1093\/nar\/gky300","article-title":"DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability","volume":"46","author":"Rodrigues","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"10.1016\/j.gimo.2023.100839_bib27","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.20634","article-title":"Myocilin allele-specific glaucoma phenotype database","volume":"29","author":"Hewitt","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.gimo.2023.100839_bib28","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.3389\/fimmu.2018.01287","article-title":"Altered functions and interactions of glaucoma-associated mutants of optineurin","volume":"9","author":"Swarup","year":"2018","journal-title":"Front Immunol"},{"issue":"5","key":"10.1016\/j.gimo.2023.100839_bib29","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1097\/IJG.0000000000001466","article-title":"Genomic characterization of TBK1 duplication in Korean normal-tension glaucoma patients","volume":"29","author":"Kim","year":"2020","journal-title":"J\u00a0Glaucoma"},{"issue":"7","key":"10.1016\/j.gimo.2023.100839_bib30","doi-asserted-by":"crossref","first-page":"e1090","DOI":"10.1111\/aos.14738","article-title":"Prevalence of MYOC risk variants for glaucoma in different populations","volume":"99","author":"Liuska","year":"2021","journal-title":"Acta Ophthalmol"},{"issue":"7","key":"10.1016\/j.gimo.2023.100839_bib31","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1001\/archopht.121.7.1034","article-title":"Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma","volume":"121","author":"Bruttini","year":"2003","journal-title":"Arch Ophthalmol"},{"issue":"25","key":"10.1016\/j.gimo.2023.100839_bib32","doi-asserted-by":"crossref","first-page":"5443","DOI":"10.1016\/j.febslet.2005.08.064","article-title":"Elucidation of subfamily segregation and intramolecular coevolution of the olfactomedin-like proteins by comprehensive phylogenetic analysis and gene expression pattern assessment","volume":"579","author":"Zeng","year":"2005","journal-title":"FEBS Lett"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib33","doi-asserted-by":"crossref","first-page":"100","DOI":"10.2353\/ajpath.2007.060806","article-title":"Aggregated myocilin induces Russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma","volume":"170","author":"Yam","year":"2007","journal-title":"Am J Pathol"},{"key":"10.1016\/j.gimo.2023.100839_bib34","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.exer.2015.08.020","article-title":"Defects in autophagy caused by glaucoma-associated mutations in optineurin","volume":"144","author":"Sirohi","year":"2016","journal-title":"Exp Eye Res"},{"issue":"1","key":"10.1016\/j.gimo.2023.100839_bib35","first-page":"49","article-title":"The E50K optineurin mutation\u00a0impacts autophagy-mediated degradation of TDP-43 and\u00a0leads to RGC apoptosis in\u00a0vivo and in\u00a0vitro","volume":"7","author":"Zhang","year":"2021","journal-title":"Cell Death\u00a0Discov"},{"key":"10.1016\/j.gimo.2023.100839_bib36","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/B978-0-12-394305-7.00005-7","article-title":"Cellular and molecular biology of optineurin","volume":"294","author":"Ying","year":"2012","journal-title":"Int Rev Cell Mol Biol"},{"issue":"4","key":"10.1016\/j.gimo.2023.100839_bib37","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1167\/iovs.06-0834","article-title":"A\u00a0glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants","volume":"48","author":"Chalasani","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774423008488?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774423008488?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T09:08:04Z","timestamp":1735290484000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949774423008488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":37,"alternative-id":["S2949774423008488"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2023.100839","relation":{},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2023.100839","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"100839"}}