{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:17:33Z","timestamp":1788358653717,"version":"build-2803163510"},"reference-count":60,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["advanced.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Advanced Science"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Idiopathic pediatric uveitis (IPU) is a leading cause of irreversible vision loss in children; however, the genetic and molecular mechanisms underlying this condition remain unclear. Herein, trio\u2010based whole\u2010exome sequencing was performed in 28 affected families and targeted sequencing was performed in 1953 sporadic cases from a Han Chinese cohort. A rare missense mutation, A773E in intraflagellar transport 122 (\n                    <jats:italic>IFT122<\/jats:italic>\n                    ), was identified in one trio and absent from sporadic cases. Functional assays showed that deleterious IFT122\u2010A773E increased inflammatory factor secretion and exacerbated barrier function damage both in vivo and in vitro. Further studies using proteomics demonstrated that IFT122\u2010A773E increased AP\u20101 transcription factor subunit (FRA1) expression. The IFT122\u2010A773E substitution enhanced the interaction with IFT43 and up\u2010regulated calcium channels, and in turn led to activation of the MEK\/ERK signaling axis. Collectively, our findings suggest that IFT122\u2010A773E may increase susceptibility to IPU through activation of the MEK\/ERK\/FRA1 axis.\n                  <\/jats:p>","DOI":"10.1002\/advs.76991","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:57:05Z","timestamp":1788357425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio\u2010based Whole\u2010Exome Sequencing"],"prefix":"10.1002","author":[{"given":"Qian","family":"Zhou","sequence":"first","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaxing","family":"Huang","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilin","family":"Wang","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingran","family":"Li","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianyang","family":"Liu","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology Beijing Tongren Eye Center Beijing Ophthalmology and Visual Sciences Key Laboratory Beijing Tongren Hospital Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingyu","family":"Dai","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongshun","family":"Li","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingfeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiangyi","family":"Liu","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guannan","family":"Su","sequence":"additional","affiliation":[{"name":"Ophthalmology Medical Center Chongqing Key Laboratory for the Prevention and Treatment of Major Blinding Eye Diseases The First Affiliated Hospital of Chongqing Medical University Chongqing Branch (Municipality Division) of National Clinical Research Centre for Ocular Diseases  Chongqing 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