{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:38Z","timestamp":1791928838396,"version":"4.3.4"},"reference-count":37,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"3","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"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":[[2024,3,22]]},"DOI":"10.1167\/iovs.65.3.31","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T11:31:04Z","timestamp":1711107064000},"page":"31","source":"Crossref","is-referenced-by-count":4,"title":["Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin\/\u03b2-Catenin Pathway Activation"],"prefix":"10.1167","volume":"65","author":[{"given":"Min","family":"Liu","sequence":"first","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Provincial People's Hospital, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erkuan","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mu","family":"Yang","sequence":"additional","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Provincial People's Hospital, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujin","family":"Li","sequence":"additional","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Provincial People's Hospital, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Fan","sequence":"additional","affiliation":[{"name":"The University of Chinese Academy of Sciences, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yining","family":"Liu","sequence":"additional","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Provincial People's Hospital, Chengdu, Sichuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haodong","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiquan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenglin","family":"Yang","sequence":"additional","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China"},{"name":"Research Unit for Blindness Prevention, Chinese Academy of Medical Sciences (2019RU026), Sichuan Provincial People's Hospital, Chengdu, Sichuan, China"},{"name":"The University of Chinese Academy of Sciences, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.preteyeres.2018.11.008","article-title":"Wnt signaling in vascular eye diseases","volume":"70","author":"Wang","year":"2019","journal-title":"Prog Retin Eye Res"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1093\/hmg\/ddr509","article-title":"Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects","volume":"21","author":"Khan","year":"2012","journal-title":"Hum Mol Genet"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1086\/318790","article-title":"A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13","volume":"68","author":"Downey","year":"2001","journal-title":"Am J Hum Genet"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"5243","DOI":"10.1038\/s41467-019-13220-3","article-title":"Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy","volume":"10","author":"Park","year":"2019","journal-title":"Nat Commun"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1086\/425080","article-title":"Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5","volume":"75","author":"Jiao","year":"2004","journal-title":"Am J Hum Genet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.jgg.2021.11.010","article-title":"Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy","volume":"49","author":"Li","year":"2022","journal-title":"J Genet Genomics"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1086\/383202","article-title":"Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q","volume":"74","author":"Toomes","year":"2004","journal-title":"Am J Hum Genet"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.cell.2009.07.048","article-title":"TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4\/beta-catenin signaling","volume":"139","author":"Junge","year":"2009","journal-title":"Cell"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/ng1093-180","article-title":"A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy","volume":"5","author":"Chen","year":"1993","journal-title":"Nat Genet"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"9856","DOI":"10.1073\/pnas.1220864110","article-title":"ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature","volume":"110","author":"Collin","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1001\/jamaophthalmol.2015.199","article-title":"Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in KIF11","volume":"133","author":"Mears","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"e139869","DOI":"10.1172\/JCI139869","article-title":"Catenin alpha 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin\/beta-catenin signaling","volume":"131","author":"Zhu","year":"2021","journal-title":"J Clin Invest"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"468","DOI":"10.3109\/13816810.2015.1120318","article-title":"CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype","volume":"37","author":"Dixon","year":"2016","journal-title":"Ophthalmic Genet"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/s41436-019-0571-5","article-title":"Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy","volume":"22","author":"Zhang","year":"2020","journal-title":"Genet Med"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1089\/gtmb.2021.0013","article-title":"Whole-exome sequencing identified DLG1 as a candidate gene for familial exudative vitreoretinopathy","volume":"25","author":"Zhang","year":"2021","journal-title":"Genet Test Mol Biomarkers"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"e158428","DOI":"10.1172\/jci.insight.158428","article-title":"CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt\/cadherin axis","volume":"7","author":"Yang","year":"2022","journal-title":"JCI Insight"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"e167032","DOI":"10.1172\/jci.insight.167032","article-title":"An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis","volume":"8","author":"Xu","year":"2023","journal-title":"JCI Insight"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"2572","DOI":"10.1016\/j.gendis.2022.10.003","article-title":"Defective EMC1 drives abnormal retinal angiogenesis via Wnt\/beta-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy","volume":"10","author":"Li","year":"2023","journal-title":"Genes Dis"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.preteyeres.2012.02.002","article-title":"Norrin: molecular and functional properties of an angiogenic and neuroprotective growth factor","volume":"31","author":"Ohlmann","year":"2012","journal-title":"Prog Retin Eye Res"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"884722","DOI":"10.3389\/fgene.2022.884722","article-title":"Spectrum of mutations in NDP resulting in ocular disease; a systematic review","volume":"13","author":"Wawrzynski","year":"2022","journal-title":"Front Genet"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.tjo.2015.04.002","article-title":"Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments","volume":"5","author":"Kondo","year":"2015","journal-title":"Taiwan J Ophthalmol"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1016\/S0092-8674(04)00216-8","article-title":"Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair","volume":"116","author":"Xu","year":"2004","journal-title":"Cell"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"e06554","DOI":"10.7554\/eLife.06554","article-title":"Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5\/6, and proteoglycan","volume":"4","author":"Chang","year":"2015","journal-title":"Elife"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"1332","DOI":"10.1016\/j.cell.2012.10.042","article-title":"Norrin\/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity","volume":"151","author":"Wang","year":"2012","journal-title":"Cell"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1038\/nmeth.1928","article-title":"Synchronization of secretory protein traffic in populations of cells","volume":"9","author":"Boncompain","year":"2012","journal-title":"Nat Methods"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1167\/iovs.06-1042","article-title":"Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy","volume":"48","author":"Kondo","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"2305","DOI":"10.1101\/gad.228544.113","article-title":"Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5\/6 complex","volume":"27","author":"Ke","year":"2013","journal-title":"Genes Dev"},{"key":"bib28","first-page":"491","article-title":"Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR","volume":"22","author":"Musada","year":"2016","journal-title":"Mol Vis"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"5949","DOI":"10.1167\/iovs.17-22577","article-title":"Mutation spectrum of the LRP5, NDP, and TSPAN12 genes in Chinese patients with familial exudative vitreoretinopathy","volume":"58","author":"Tang","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"5368","DOI":"10.1167\/iovs.17-23541","article-title":"Spectrum of variants in 389 Chinese probands with familial exudative vitreoretinopathy","volume":"59","author":"Li","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1038\/s41580-020-00294-x","article-title":"Global view of human protein glycosylation pathways and functions","volume":"21","author":"Schjoldager","year":"2020","journal-title":"Nat Rev Mol Cell Biol"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/0092-8674(84)90520-8","article-title":"Protein translocation across the endoplasmic reticulum","volume":"38","author":"Walter","year":"1984","journal-title":"Cell"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/978-1-4939-3804-9","article-title":"ER to Golgi-dependent protein secretion: the conventional pathway","volume":"1459","author":"Viotti","year":"2016","journal-title":"Methods Mol Biol"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1080\/15548627.2016.1203489","article-title":"Alternative autophagy, brefeldin A and viral trafficking pathways","volume":"12","author":"Grose","year":"2016","journal-title":"Autophagy"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"1715","DOI":"10.1083\/jcb.131.6.1715","article-title":"Characterization of a cis-Golgi matrix protein, GM130","volume":"131","author":"Nakamura","year":"1995","journal-title":"J Cell Biol"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"3069","DOI":"10.1172\/JCI128994","article-title":"Norrin mediates tumor-promoting and -suppressive effects in glioblastoma via Notch and Wnt","volume":"130","author":"El-Sehemy","year":"2020","journal-title":"J Clin Invest"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/s41593-019-0366-7","article-title":"Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin","volume":"22","author":"Miller","year":"2019","journal-title":"Nat Neurosci"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2793474","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:52Z","timestamp":1791927112000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2793474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,22]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3,5]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.65.3.31","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3,22]]}}}