{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T05:10:49Z","timestamp":1781673049673,"version":"3.54.5"},"reference-count":32,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002722","name":"AllerGen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002722","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004336","name":"Novartis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004336","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001108","name":"Ophthalmic Research Institute of Australia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001108","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Channel Seven Foundation"},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australian National Health and Medical Research Council Centres of Research Excellence","award":["1023911"],"award-info":[{"award-number":["1023911"]}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["NEI EY018825"],"award-info":[{"award-number":["NEI EY018825"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY023512"],"award-info":[{"award-number":["EY023512"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajo.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.ajo.2014.09.044","type":"journal-article","created":{"date-parts":[[2014,10,4]],"date-time":"2014-10-04T06:59:51Z","timestamp":1412405991000},"page":"124-130.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":73,"title":["Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma"],"prefix":"10.1016","volume":"159","author":[{"given":"Mona S.","family":"Awadalla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Fingert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin E.","family":"Roos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart L.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Chehade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Galanopolous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Ridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Souzeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiger","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen M.","family":"Siggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex W.","family":"Hewitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn P.","family":"Burdon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ajo.2014.09.044_bib1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/bjo.2005.081224","article-title":"The number of people with glaucoma world wide in 2010 and 2020","volume":"90","author":"Quigley","year":"2006","journal-title":"Br J Ophthalmol"},{"issue":"11","key":"10.1016\/j.ajo.2014.09.044_bib2","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1056\/NEJMra0804630","article-title":"Primary open-angle glaucoma","volume":"360","author":"Kwon","year":"2009","journal-title":"N Engl J Med"},{"issue":"9774","key":"10.1016\/j.ajo.2014.09.044_bib3","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1016\/S0140-6736(10)61423-7","article-title":"Glaucoma","volume":"377","author":"Quigley","year":"2011","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.ajo.2014.09.044_bib4","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/j.1442-9071.2006.01268.x","article-title":"Complex genetics of complex traits: the case of primary open-angle glaucoma","volume":"34","author":"Hewitt","year":"2006","journal-title":"Clin Experiment Ophthalmol"},{"issue":"6","key":"10.1016\/j.ajo.2014.09.044_bib5","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/j.1442-9071.2011.02742.x","article-title":"Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment","volume":"40","author":"Souzeau","year":"2012","journal-title":"Clin Experiment Ophthalmol"},{"issue":"12","key":"10.1016\/j.ajo.2014.09.044_bib6","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1001\/archopht.116.12.1640","article-title":"Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study","volume":"116","author":"Wolfs","year":"1998","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"10.1016\/j.ajo.2014.09.044_bib7","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1038\/eye.2011.97","article-title":"Primary open-angle glaucoma genes","volume":"25","author":"Fingert","year":"2011","journal-title":"Eye (Lond)"},{"issue":"5557","key":"10.1016\/j.ajo.2014.09.044_bib8","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"},{"key":"10.1016\/j.ajo.2014.09.044_bib9","first-page":"217","article-title":"The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study","volume":"9","author":"Forsman","year":"2003","journal-title":"Mol Vis"},{"issue":"3","key":"10.1016\/j.ajo.2014.09.044_bib10","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/s00439-003-0964-y","article-title":"The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene","volume":"113","author":"Tang","year":"2003","journal-title":"Hum Genet"},{"key":"10.1016\/j.ajo.2014.09.044_bib11","first-page":"284","article-title":"Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients","volume":"11","author":"Weisschuh","year":"2005","journal-title":"Mol Vis"},{"issue":"5","key":"10.1016\/j.ajo.2014.09.044_bib12","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"},{"key":"10.1016\/j.ajo.2014.09.044_bib13","first-page":"1421","article-title":"Absence of altered expression of optineurin in primary open angle glaucoma patients","volume":"18","author":"Abu-Amero","year":"2012","journal-title":"Mol Vis"},{"issue":"13","key":"10.1016\/j.ajo.2014.09.044_bib14","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1093\/hmg\/ddq146","article-title":"Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice","volume":"19","author":"Chi","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"12","key":"10.1016\/j.ajo.2014.09.044_bib15","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":"1","key":"10.1016\/j.ajo.2014.09.044_bib16","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":"5","key":"10.1016\/j.ajo.2014.09.044_bib17","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1001\/jamaophthalmol.2014.104","article-title":"TBK1 gene duplication and normal-tension glaucoma","volume":"132","author":"Ritch","year":"2014","journal-title":"JAMA Ophthalmol"},{"issue":"11","key":"10.1016\/j.ajo.2014.09.044_bib18","doi-asserted-by":"crossref","first-page":"e27134","DOI":"10.1371\/journal.pone.0027134","article-title":"GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease","volume":"6","author":"Liu","year":"2011","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.ajo.2014.09.044_bib19","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1167\/iovs.06-0472","article-title":"Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations","volume":"48","author":"Strungaru","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5714","key":"10.1016\/j.ajo.2014.09.044_bib20","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1126\/science.1101160","article-title":"The influence of CCL3L1 gene-containing segmental duplications on HIV-1\/AIDS susceptibility","volume":"307","author":"Gonzalez","year":"2005","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.ajo.2014.09.044_bib21","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","article-title":"Structural variation of chromosomes in autism spectrum disorder","volume":"82","author":"Marshall","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.ajo.2014.09.044_bib22","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1101\/gr.3677206","article-title":"Copy number variation: new insights in genome diversity","volume":"16","author":"Freeman","year":"2006","journal-title":"Genome Res"},{"issue":"1","key":"10.1016\/j.ajo.2014.09.044_bib23","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3109\/13816810.2013.768674","article-title":"TBK1 and flanking genes in human retina","volume":"35","author":"Fingert","year":"2014","journal-title":"Ophthalmic Genet"},{"issue":"6","key":"10.1016\/j.ajo.2014.09.044_bib24","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/j.febslet.2008.02.047","article-title":"Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma","volume":"582","author":"Morton","year":"2008","journal-title":"FEBS Lett"},{"issue":"6039","key":"10.1016\/j.ajo.2014.09.044_bib25","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.1205405","article-title":"Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth","volume":"333","author":"Wild","year":"2011","journal-title":"Science"},{"issue":"16","key":"10.1016\/j.ajo.2014.09.044_bib26","doi-asserted-by":"crossref","first-page":"3213","DOI":"10.1038\/emboj.2011.244","article-title":"Autophagy and innate immunity ally against bacterial invasion","volume":"30","author":"Galluzzi","year":"2011","journal-title":"EMBO J"},{"issue":"5","key":"10.1016\/j.ajo.2014.09.044_bib27","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.ajo.2012.04.023","article-title":"Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma","volume":"154","author":"Dimasi","year":"2012","journal-title":"Am J Ophthalmol"},{"issue":"2","key":"10.1016\/j.ajo.2014.09.044_bib28","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/bjo.86.2.238","article-title":"The definition and classification of glaucoma in prevalence surveys","volume":"86","author":"Foster","year":"2002","journal-title":"Br J Ophthalmol"},{"issue":"6","key":"10.1016\/j.ajo.2014.09.044_bib29","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/ng.824","article-title":"Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1","volume":"43","author":"Burdon","year":"2011","journal-title":"Nat Genet"},{"issue":"5","key":"10.1016\/j.ajo.2014.09.044_bib30","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1086\/521987","article-title":"Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering","volume":"81","author":"Browning","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"7319","key":"10.1016\/j.ajo.2014.09.044_bib31","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Abecasis","year":"2010","journal-title":"Nature"},{"issue":"17","key":"10.1016\/j.ajo.2014.09.044_bib32","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"}],"container-title":["American Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939414006345?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939414006345?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T13:11:06Z","timestamp":1757596266000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002939414006345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S0002939414006345"],"URL":"https:\/\/doi.org\/10.1016\/j.ajo.2014.09.044","relation":{},"ISSN":["0002-9394"],"issn-type":[{"value":"0002-9394","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajo.2014.09.044","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}