{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T08:29:15Z","timestamp":1789720155720,"version":"4.0.1"},"reference-count":54,"publisher":"American Society for Clinical Investigation","issue":"23","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["R01EY031820"],"award-info":[{"award-number":["R01EY031820"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["P30EY014104"],"award-info":[{"award-number":["P30EY014104"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","award":["U54 HD090255"],"award-info":[{"award-number":["U54 HD090255"]}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["R01 NS38253"],"award-info":[{"award-number":["R01 NS38253"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000912","name":"March of Dimes Foundation","doi-asserted-by":"crossref","award":["6-FY13-90"],"award-info":[{"award-number":["6-FY13-90"]}],"id":[{"id":"10.13039\/100000912","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Channel Seven Children\u2019s Research Foundation","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"name":"The Ophthalmic Research Institute of Australia","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"name":"Department of Innovation, Industry, Science and Research of Australia","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"name":"National Health and Medical Research Council of Australia","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,1]]},"DOI":"10.1172\/jci156967","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T19:00:59Z","timestamp":1669834859000},"source":"Crossref","is-referenced-by-count":26,"title":["Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma"],"prefix":"10.1172","volume":"132","author":[{"given":"Haojie","family":"Fu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2840-4851","authenticated-orcid":false,"given":"Owen M.","family":"Siggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7633-5486","authenticated-orcid":false,"given":"Lachlan S.W.","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3131-9359","authenticated-orcid":false,"given":"Sandra E.","family":"Staffieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3879-2704","authenticated-orcid":false,"given":"Jonathan B.","family":"Ruddle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy E.","family":"Birsner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward Ryan","family":"Collantes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9955-9696","authenticated-orcid":false,"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1890-3278","authenticated-orcid":false,"given":"Janey L.","family":"Wiggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"D\u2019Amato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2022,12,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.01.017"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2020.100897"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3931"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx184"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20851-4"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0126-8"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.05.005"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx205"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1172\/JCI85830"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1172\/JCI95545"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.12.024"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24238"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24320"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1089\/jop.2014.0163"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1089\/jop.2014.0013"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1369\/0022155419851103"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2004.07.005"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2009.01.005"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1089\/jop.2015.0016"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-9013"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24218"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2001250117"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2021.112709"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20092277"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2003.10.162"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600166"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz184"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.021006"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-26346-0"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.12.6"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001306"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0140436"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2015.05.004"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-12298"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-14519"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22084062"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.680568"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3215"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-04-015701"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2011.04494.x"},{"issue":"1","key":"B42","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1080\/02713683.2021.1945109","article-title":"Identification of missense extracellular matrix gene variants in a large glaucoma pedigree and investigation of the N700S thrombospondin-1 variant in normal and glaucomatous trabecular meshwork cells","volume":"1-12","author":"Wirtz","year":"2021","journal-title":"Curr Eye Res"},{"key":"B43","doi-asserted-by":"crossref","unstructured":"Karczewski K, et al. Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes [preprint]. https:\/\/doi.org\/10.1101\/2021.06.19.21259117 Posted on medRxiv June 6, 2022","DOI":"10.1101\/2021.06.19.21259117"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2021.03.007"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12558"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.172"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-017-1220-4"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.3109\/02713683.2010.494241"},{"issue":"90","key":"B51","doi-asserted-by":"crossref","DOI":"10.3791\/51375","article-title":"The corneal micropocket assay: a model of angiogenesis in the mouse eye","author":"Birsner","year":"2014","journal-title":"J Vis Exp"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027385"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-12033"},{"issue":"119","key":"B54","doi-asserted-by":"crossref","DOI":"10.3791\/55051","article-title":"A rapid, scalable method for the isolation, functional study, and analysis of cell-derived extracellular matrix","author":"Hellewell","year":"2017","journal-title":"J Vis Exp"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/156967\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T17:43:50Z","timestamp":1691084630000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/156967"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":54,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,1]]}},"alternative-id":["10.1172\/JCI156967"],"URL":"https:\/\/doi.org\/10.1172\/jci156967","relation":{},"ISSN":["1558-8238"],"issn-type":[{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,1]]},"article-number":"e156967"}}