{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["65(4)"],"submitter":["Dai E"],"pubmed_abstract":["<h4>Purpose</h4>The purpose of this study is to report five novel FZD4 mutations identified in familial exudative vitreoretinopathy (FEVR) and to analyze and summarize the pathogenic mechanisms of 34 of 96 reported missense mutations in FZD4.<h4>Methods</h4>Five probands diagnosed with FEVR and their family members were enrolled in the study. Ocular examinations and targeted gene panel sequencing were conducted on all participants. Plasmids, each carrying 29 previously reported FZD4 missense mutations and five novel mutations, were constructed based on the selection of mutations from each domain of FZD4. These plasmids were used to investigate the effects of mutations on protein expression levels, Norrin/β-catenin activation capacity, membrane localization, norrin binding ability, and DVL2"],"journal":["Investigative ophthalmology & visual science"],"pagination":["1"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10996936"],"repository":["biostudies-literature"],"pubmed_title":["Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations."],"pmcid":["PMC10996936"],"pubmed_authors":["Liu M","Yang M","Lv L","Yang Z","Li S","He Y","Zhao R","Wang S","Zhang X","Zhao P","Xiao H","Dai E","Peng L"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.","description":"<h4>Purpose</h4>The purpose of this study is to report five novel FZD4 mutations identified in familial exudative vitreoretinopathy (FEVR) and to analyze and summarize the pathogenic mechanisms of 34 of 96 reported missense mutations in FZD4.<h4>Methods</h4>Five probands diagnosed with FEVR and their family members were enrolled in the study. Ocular examinations and targeted gene panel sequencing were conducted on all participants. Plasmids, each carrying 29 previously reported FZD4 missense mutations and five novel mutations, were constructed based on the selection of mutations from each domain of FZD4. These plasmids were used to investigate the effects of mutations on protein expression levels, Norrin/β-catenin activation capacity, membrane localization, norrin binding ability, and DVL2","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-07-15T10:01:49.669Z","creation":"2025-02-18T22:34:21.517Z"},"accession":"S-EPMC10996936","cross_references":{"pubmed":["38558095"],"doi":["10.1167/iovs.65.4.1"]}}