{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360021390770865280.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.7759/cureus.55102"}},{"identifier":{"@type":"URI","@value":"https://www.cureus.com/articles/230157-a-case-of-c3-nephritis-with-a-rare-variant-of-the-cfhr5-gene"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"A Case of C3 Nephritis With a Rare Variant of the CFHR5 Gene"}],"description":[{"notation":[{"@value":"C3 nephropathy is a renal disease caused by the aberrant activation of the alternative complement pathway. The long-term renal prognosis of C3 nephropathy is generally poor, and elucidation of its pathogenesis is clinically important. Genetic abnormalities within complement genes, encompassing autoantibodies targeting complement components and complement factor H-related proteins (CFHRs), can lead to abnormal complement activation. CFHR5 is one of the best-known responsible genes for C3 nephritis. Moreover, the renal prognosis can vary depending on the specific type of genetic mutation. Here, we report the case of a young woman with C3 nephritis and a heterozygous rare variant, P453S, in CFHR5. The P453S variant, characterized by amino acid substitutions with a low allele frequency, was located in the region essential for CFHR5 protein function, and multiple in silico analyses were done suggesting the pathological significance of P453S. The renal function of our patient remains stable. The P453S variant might contribute to the suppression of the CFHR5 protein’s function, resulting in gradual complement progression and a favorable renal prognosis."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380021390770865287","@type":"Researcher","foaf:name":[{"@value":"Hisashi Kamido"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390770865293","@type":"Researcher","foaf:name":[{"@value":"Shinya Yamamoto"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390770865282","@type":"Researcher","foaf:name":[{"@value":"Hideki Yokoi"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326229276416","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"20303638"},{"@type":"NRID","@value":"1000020303638"},{"@type":"NRID","@value":"9000000736705"},{"@type":"NRID","@value":"9000254512216"},{"@type":"NRID","@value":"9000283112487"},{"@type":"NRID","@value":"9000404644879"},{"@type":"NRID","@value":"9000283407720"},{"@type":"NRID","@value":"9000000437973"},{"@type":"NRID","@value":"9000240056113"},{"@type":"NRID","@value":"9000346962835"},{"@type":"NRID","@value":"9000254095492"},{"@type":"NRID","@value":"9000020869884"},{"@type":"NRID","@value":"9000406389613"},{"@type":"NRID","@value":"9000411542772"},{"@type":"NRID","@value":"9000413254242"},{"@type":"NRID","@value":"9000020305281"},{"@type":"NRID","@value":"9000403548100"},{"@type":"NRID","@value":"9000411390213"},{"@type":"NRID","@value":"9000001109451"},{"@type":"NRID","@value":"9000402605887"},{"@type":"NRID","@value":"9000368412028"},{"@type":"NRID","@value":"9000287292750"},{"@type":"NRID","@value":"9000000729161"},{"@type":"NRID","@value":"9000020611301"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/MM006317"}],"foaf:name":[{"@value":"Masashi Mizuno"}]},{"@id":"https://cir.nii.ac.jp/crid/1380021390770865285","@type":"Researcher","foaf:name":[{"@value":"Motoko Yanagita"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"21688184"}],"prism:publicationName":[{"@value":"Cureus"}],"dc:publisher":[{"@value":"Springer Science and Business Media LLC"}],"prism:publicationDate":"2024-02-27"},"reviewed":"false","url":[{"@id":"https://www.cureus.com/articles/230157-a-case-of-c3-nephritis-with-a-rare-variant-of-the-cfhr5-gene"}],"createdAt":"2024-02-28","modifiedAt":"2024-02-28","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=General%20Engineering","dc:title":"General Engineering"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040573407543119360","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"22K08309"},{"@type":"JGN","@value":"JP22K08309"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22K08309/"}],"notation":[{"@language":"ja","@value":"補体関連蛋白の遺伝子変異と自己抗体の存在に着目したC3腎症の病因・病態解明"},{"@language":"en","@value":"Analysis of pathogenesis associated with mutation of complement associated gene and autoantibodies in development/progression of C3 nephropathy."}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050282677604301440","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"C3 glomerulopathy and current dilemmas"}]},{"@id":"https://cir.nii.ac.jp/crid/1360302871499213568","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574093660507136","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"C3 glomerulopathy — understanding a rare complement-driven renal disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1360576120124680704","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"C3 glomerulonephritis and dense deposit disease share a similar disease course in a large United States cohort of patients with C3 glomerulopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360576120155501824","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Update on C3 Glomerulopathy: A Complement-Mediated Disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1360584342603751808","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"C3 glomerulonephritis and CFHR5 nephropathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360584342604355712","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360865818492102144","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex–Mediated Membranoproliferative GN"}]},{"@id":"https://cir.nii.ac.jp/crid/1360865820412982912","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"C3 Glomerulopathy: Pathogenesis and Treatment"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137045965871744","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Dimerization of complement factor H-related proteins modulates complement activation in vivo"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794875099392","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.7759/cureus.55102"},{"@type":"KAKEN","@value":"PRODUCT-24927020"},{"@type":"OPENAIRE","@value":"doi_dedup___::2f6f93335fe5edbc1c195e2636ca1b9a"}]}