{"database":"GEO","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Other":["ftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE335nnn/GSE335073/"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Genomics"],"species":["Homo sapiens"],"gds_type":["Genome binding/occupancy profiling by high throughput sequencing"],"full_dataset_link":["https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE335073"],"repository":["GEO"],"entry_type":["GSE"],"additional_accession":[]},"is_claimable":false,"name":"A De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis via Trio-based Whole-Exome Sequencing [CHIP_FRA1_seq]","description":"Idiopathic pediatric uveitis (IPU) is a leading cause of irreversible vision loss in children; however, its genetic and molecular mechanisms remain unclear. Herein, trio-based whole-exome sequencing was performed in 28 affected families and targeted sequencing in 1953 sporadic cases from a Han Chinese cohort, identifying a rare missense mutation A773E in intraflagellar transport 122 (IFT122). Functional assays showed deleterious IFT122-E773 increased inflammatory factors secretion and exacerbated barrier function damage both in vivo and vitro. Further studies using proteomics found that IFT122-E773 increased AP-1 transcription factor subunit (FRA1) expression. In addition, the IFT122-E773 substitution enhanced the interaction with IFT43, thereby activating the MEK/ERK signaling axis. Collectively, this study suggested that IFT122-E773 may increase susceptibility to IPU through activation of the IFT122-MEK/ERK/FRA1 axis.","dates":{"publication":"2026/09/09"},"accession":"GSE335073","cross_references":{"GSM":["GSM9805530","GSM9805528","GSM9805529"],"GPL":["24676"],"GSE":["335073"],"taxon":["Homo sapiens"],"PMID":["[42684157]"]}}