{"@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/1360285706229379840.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1007/s00467-016-3549-4"}},{"identifier":{"@type":"URI","@value":"http://link.springer.com/content/pdf/10.1007/s00467-016-3549-4.pdf"}},{"identifier":{"@type":"URI","@value":"http://link.springer.com/article/10.1007/s00467-016-3549-4/fulltext.html"}},{"identifier":{"@type":"PMID","@value":"27942854"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome"}],"description":[{"notation":[{"@value":"Steroid-resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disorder for which more than 25 single-gene hereditary causes have been identified.Whole exome sequencing was performed in a 3-year-old girl with SRNS. We analyzed the expression of Crb2 and slit diaphragm molecules in the patient's glomeruli, and compared it with that of controls or other nephrotic patients.Whole-exome analysis identified novel compound heterozygous mutations in exons 10 and 12 of CRB2 (p.Trp1086ArgfsX64 and p.Asn1184Thr, each from different parents; Asn1184 within extracellular 15th EGF repeat domain). Renal pathology showed focal segmental glomerulosclerosis with effaced podocyte foot processes in a small area, with significantly decreased Crb2 expression. Molecules critical for slit diaphragm were well-expressed in this patient's podocytes. Crb2 expression was not altered in the other patients with congenital nephrotic syndrome with NPHS1 mutations.These findings demonstrate that Crb2 abnormalities caused by these mutations are the mechanism of steroid-resistant NS. Although CRB2 mutations previously found in SRNS patients have been clustered within the extracellular tenth EGF-like domain of this protein, the present results expand the variation of CRB2 mutations that cause SRNS."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380285706229379840","@type":"Researcher","foaf:name":[{"@value":"Tomohiro Udagawa"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229379846","@type":"Researcher","foaf:name":[{"@value":"Tohaku Jo"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326209527168","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40409181"},{"@type":"NRID","@value":"1000040409181"},{"@type":"NRID","@value":"9000410622219"},{"@type":"NRID","@value":"9000283597473"},{"@type":"NRID","@value":"9000018533268"},{"@type":"NRID","@value":"9000327928657"},{"@type":"NRID","@value":"9000397706230"},{"@type":"NRID","@value":"9000361255019"},{"@type":"NRID","@value":"9000010959083"},{"@type":"NRID","@value":"9000370248807"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/yagitake4"}],"foaf:name":[{"@value":"Takeshi Yanagihara"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229380100","@type":"Researcher","foaf:name":[{"@value":"Akira Shimizu"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229379979","@type":"Researcher","foaf:name":[{"@value":"Jun Mitsui"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229379841","@type":"Researcher","foaf:name":[{"@value":"Shoji Tsuji"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229379842","@type":"Researcher","foaf:name":[{"@value":"Shinichi Morishita"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229379976","@type":"Researcher","foaf:name":[{"@value":"Reiko Onai"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751165121920","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"70408483"},{"@type":"NRID","@value":"1000070408483"},{"@type":"NRID","@value":"9000414844233"},{"@type":"NRID","@value":"9000409848590"},{"@type":"NRID","@value":"9000410046562"},{"@type":"NRID","@value":"9000378062904"},{"@type":"NRID","@value":"9000363352234"},{"@type":"NRID","@value":"9000413918329"},{"@type":"NRID","@value":"9000340453276"},{"@type":"NRID","@value":"9000414940210"},{"@type":"NRID","@value":"9000414940186"},{"@type":"NRID","@value":"9000388499401"},{"@type":"NRID","@value":"9000414940200"},{"@type":"NRID","@value":"9000402598813"},{"@type":"NRID","@value":"9000017385004"},{"@type":"NRID","@value":"9000398777279"},{"@type":"NRID","@value":"9000403324091"},{"@type":"NRID","@value":"9000414940172"},{"@type":"NRID","@value":"9000409848691"},{"@type":"NRID","@value":"9000399004488"},{"@type":"NRID","@value":"9000387917241"},{"@type":"NRID","@value":"9000409848709"},{"@type":"NRID","@value":"9000405525751"},{"@type":"NRID","@value":"9000413757832"},{"@type":"NRID","@value":"9000414938302"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/researchmap-miuped"}],"foaf:name":[{"@value":"Kenichiro Miura"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751164305024","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"60632651"},{"@type":"NRID","@value":"1000060632651"},{"@type":"NRID","@value":"9000414844238"},{"@type":"NRID","@value":"9000020184368"},{"@type":"NRID","@value":"9000409848591"},{"@type":"NRID","@value":"9000363362616"},{"@type":"NRID","@value":"9000340453281"},{"@type":"NRID","@value":"9000403105307"},{"@type":"NRID","@value":"9000414940204"},{"@type":"NRID","@value":"9000378057244"},{"@type":"NRID","@value":"9000409848683"},{"@type":"NRID","@value":"9000399156442"},{"@type":"NRID","@value":"9000396133853"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/skanda"}],"foaf:name":[{"@value":"Shoichiro Kanda"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229380101","@type":"Researcher","foaf:name":[{"@value":"Yuko Kajiho"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229380102","@type":"Researcher","foaf:name":[{"@value":"Haruko Tsurumi"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751134905472","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"00251273"},{"@type":"NRID","@value":"1000000251273"},{"@type":"NRID","@value":"9000367864542"},{"@type":"NRID","@value":"9000411648078"},{"@type":"NRID","@value":"9000004140093"},{"@type":"NRID","@value":"9000283719591"},{"@type":"NRID","@value":"9000298901347"},{"@type":"NRID","@value":"9000399834650"},{"@type":"NRID","@value":"9000396109041"},{"@type":"NRID","@value":"9000386103480"},{"@type":"NRID","@value":"9000345352835"},{"@type":"NRID","@value":"9000283121776"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/201810"}],"foaf:name":[{"@value":"Akira Oka"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285706229380104","@type":"Researcher","foaf:name":[{"@value":"Motoshi Hattori"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276170747008","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"10451866"},{"@type":"NRID","@value":"1000010451866"},{"@type":"NRID","@value":"9000006165823"},{"@type":"NRID","@value":"9000414844239"},{"@type":"NRID","@value":"9000020184376"},{"@type":"NRID","@value":"9000014227307"},{"@type":"NRID","@value":"9000021742564"},{"@type":"NRID","@value":"9000409848589"},{"@type":"NRID","@value":"9000410743344"},{"@type":"NRID","@value":"9000253561407"},{"@type":"NRID","@value":"9000414086181"},{"@type":"NRID","@value":"9000024188613"},{"@type":"NRID","@value":"9000414940213"},{"@type":"NRID","@value":"9000021740839"},{"@type":"NRID","@value":"9000010463824"},{"@type":"NRID","@value":"9000335563795"},{"@type":"NRID","@value":"9000024202325"},{"@type":"NRID","@value":"9000413902896"},{"@type":"NRID","@value":"9000010000132"},{"@type":"NRID","@value":"9000017384720"},{"@type":"NRID","@value":"9000310331845"},{"@type":"NRID","@value":"9000024230977"},{"@type":"NRID","@value":"9000403411724"},{"@type":"NRID","@value":"9000024264816"},{"@type":"NRID","@value":"9000259294546"},{"@type":"NRID","@value":"9000356660090"},{"@type":"NRID","@value":"9000314806582"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/haritay"}],"foaf:name":[{"@value":"Yutaka Harita"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"0931041X"},{"@type":"EISSN","@value":"1432198X"}],"prism:publicationName":[{"@value":"Pediatric Nephrology"}],"dc:publisher":[{"@value":"Springer Science and Business Media LLC"}],"prism:publicationDate":"2016-12-10","prism:volume":"32","prism:number":"5","prism:startingPage":"801","prism:endingPage":"809"},"reviewed":"false","dc:rights":["http://www.springer.com/tdm"],"url":[{"@id":"http://link.springer.com/content/pdf/10.1007/s00467-016-3549-4.pdf"},{"@id":"http://link.springer.com/article/10.1007/s00467-016-3549-4/fulltext.html"}],"createdAt":"2016-12-10","modifiedAt":"2017-06-25","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Nephrotic%20Syndrome","dc:title":"Nephrotic Syndrome"},{"@id":"https://cir.nii.ac.jp/all?q=Glomerulosclerosis,%20Focal%20Segmental","dc:title":"Glomerulosclerosis, Focal Segmental"},{"@id":"https://cir.nii.ac.jp/all?q=Podocytes","dc:title":"Podocytes"},{"@id":"https://cir.nii.ac.jp/all?q=Kidney%20Glomerulus","dc:title":"Kidney Glomerulus"},{"@id":"https://cir.nii.ac.jp/all?q=Anti-Inflammatory%20Agents","dc:title":"Anti-Inflammatory Agents"},{"@id":"https://cir.nii.ac.jp/all?q=Drug%20Resistance","dc:title":"Drug Resistance"},{"@id":"https://cir.nii.ac.jp/all?q=Membrane%20Proteins","dc:title":"Membrane Proteins"},{"@id":"https://cir.nii.ac.jp/all?q=Gene%20Expression%20Regulation,%20Enzymologic","dc:title":"Gene Expression Regulation, Enzymologic"},{"@id":"https://cir.nii.ac.jp/all?q=HEK293%20Cells","dc:title":"HEK293 Cells"},{"@id":"https://cir.nii.ac.jp/all?q=Child,%20Preschool","dc:title":"Child, Preschool"},{"@id":"https://cir.nii.ac.jp/all?q=Mutation","dc:title":"Mutation"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Exome","dc:title":"Exome"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Steroids","dc:title":"Steroids"},{"@id":"https://cir.nii.ac.jp/all?q=Carrier%20Proteins","dc:title":"Carrier Proteins"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781968581504","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"17K09689"},{"@type":"JGN","@value":"JP17K09689"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K09689/"}],"notation":[{"@language":"ja","@value":"先天性腎尿路異常の新規原因遺伝子CBWD1の細胞内での役割"},{"@language":"en","@value":"Intracellular role of CBWD1, a novel causative gene of congenital anomalies of the kidney and urinary tract"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256892521984","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"16K10060"},{"@type":"JGN","@value":"JP16K10060"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16K10060/"}],"notation":[{"@language":"ja","@value":"網羅的アプローチによる膜性増殖性糸球体腎炎病態形成機序の解析"},{"@language":"en","@value":"Analysis on molecular mechanism of mesangial proliferative glomerulonephritis"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256898765440","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"16K15523"},{"@type":"JGN","@value":"JP16K15523"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16K15523/"}],"notation":[{"@language":"ja","@value":"多層的プロテオーム解析による小児先天性腎疾患尿中バイオマーカー開発"},{"@language":"en","@value":"Proteomic analysis of urinary exosome of pediatric kidney diseases"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004235802739968","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Long‐term clinicopathologic observation in a case of steroid‐resistant nephrotic syndrome caused by a novel <i>Crumbs homolog 2</i> mutation"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011142937863040","@type":"Article","resourceType":"preprint","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Analysis of protein-coding genetic variation in 60,706 humans"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011145922595840","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier"}]},{"@id":"https://cir.nii.ac.jp/crid/1360017282228233344","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"A Novel Mouse Model of Idiopathic Nephrotic Syndrome Induced by Immunization with the Podocyte Protein Crb2"}]},{"@id":"https://cir.nii.ac.jp/crid/1360290617638041216","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Crumbs proteins stabilize the cone mosaics of photoreceptors and improve vision in zebrafish"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292617917136768","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Fast and accurate short read alignment with Burrows–Wheeler transform"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292619241541760","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292619952535680","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Expansion of phenotype and genotypic data in CRB2-related syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292620279824000","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1360848660653268352","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"SIRP<b>α</b> interacts with nephrin at the podocyte slit diaphragm"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855567866476544","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The Sequence Alignment/Map format and SAMtools"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855570629641600","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Expanding the phenotype of <scp>CRB2</scp> mutations – A new ciliopathy syndrome?"}]},{"@id":"https://cir.nii.ac.jp/crid/1360857593692833408","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature"}]},{"@id":"https://cir.nii.ac.jp/crid/1360861704773488640","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418518579915392","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418518991044864","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699995243260544","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"LMX1B transactivation and expression in nail-patella syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1361981469956216320","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Nephrotic syndrome in childhood"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825894169503872","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825895734726400","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107370464061568","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Podocytes: Gaining a foothold"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388844859075712","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794060589824","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Phosphorylation of Nephrin Triggers Ca2+ Signaling by Recruitment and Activation of Phospholipase C-γ1"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794266068736","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"New developments in steroid-resistant nephrotic syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233271072151552","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1390581070839202048","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Medical practice of focal segmental glomerulosclerosis (FSGS)"},{"@language":"ja","@value":"巣状分節性糸球体硬化症（FSGS）の臨床"}]},{"@id":"https://cir.nii.ac.jp/crid/2051714792006384512","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1007/s00467-016-3549-4"},{"@type":"KAKEN","@value":"PRODUCT-21440122"},{"@type":"KAKEN","@value":"PRODUCT-21238645"},{"@type":"KAKEN","@value":"PRODUCT-21898839"},{"@type":"KAKEN","@value":"PRODUCT-21283880"},{"@type":"KAKEN","@value":"PRODUCT-22825649"},{"@type":"OPENAIRE","@value":"doi_dedup___::d03469b3d1bfca3f0e9c0b9726c12b1d"},{"@type":"CROSSREF","@value":"10.1111/nep.13244_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.1681/asn.2022010070_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.1007/s10157-017-1449-y_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.1016/j.jgg.2020.12.002_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.1038/s41598-021-91520-9_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.1007/s00467-022-05604-3_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"},{"@type":"CROSSREF","@value":"10.3165/jjpn.rv.24-006_references_DOI_4154DCuw4DAQZC2TT7R41qz7wLh"}]}