{"@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/1363670320703872128.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1016/j.ajhg.2008.01.010"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0002929708001584?httpAccept=text/xml"}},{"identifier":{"@type":"URI","@value":"https://api.elsevier.com/content/article/PII:S0002929708001584?httpAccept=text/plain"}}],"dc:title":[{"@value":"Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1383670320703872139","@type":"Researcher","foaf:name":[{"@value":"Nancy D. Merner"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872129","@type":"Researcher","foaf:name":[{"@value":"Kathy A. Hodgkinson"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872136","@type":"Researcher","foaf:name":[{"@value":"Annika F.M. Haywood"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872132","@type":"Researcher","foaf:name":[{"@value":"Sean Connors"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872256","@type":"Researcher","foaf:name":[{"@value":"Vanessa M. French"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872131","@type":"Researcher","foaf:name":[{"@value":"Jörg-Detlef Drenckhahn"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872130","@type":"Researcher","foaf:name":[{"@value":"Christine Kupprion"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872128","@type":"Researcher","foaf:name":[{"@value":"Kalina Ramadanova"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872135","@type":"Researcher","foaf:name":[{"@value":"Ludwig Thierfelder"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872138","@type":"Researcher","foaf:name":[{"@value":"William McKenna"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872137","@type":"Researcher","foaf:name":[{"@value":"Barry Gallagher"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872133","@type":"Researcher","foaf:name":[{"@value":"Lynn Morris-Larkin"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872140","@type":"Researcher","foaf:name":[{"@value":"Anne S. Bassett"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872141","@type":"Researcher","foaf:name":[{"@value":"Patrick S. Parfrey"}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320703872134","@type":"Researcher","foaf:name":[{"@value":"Terry-Lynn Young"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00029297"}],"prism:publicationName":[{"@value":"The American Journal of Human Genetics"}],"dc:publisher":[{"@value":"Elsevier BV"}],"prism:publicationDate":"2008-04","prism:volume":"82","prism:number":"4","prism:startingPage":"809","prism:endingPage":"821"},"reviewed":"false","dc:rights":["https://www.elsevier.com/tdm/userlicense/1.0/","https://www.elsevier.com/open-access/userlicense/1.0/"],"url":[{"@id":"https://api.elsevier.com/content/article/PII:S0002929708001584?httpAccept=text/xml"},{"@id":"https://api.elsevier.com/content/article/PII:S0002929708001584?httpAccept=text/plain"}],"createdAt":"2008-03-02","modifiedAt":"2018-12-31","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004229898409984","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"<i>TMEM43</i> mutations in emery‐dreifuss muscular dystrophy‐related myopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360013168756805632","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360283691007648384","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"The genetic background of arrhythmogenic right ventricular cardiomyopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360294643700287488","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Chemical Genetics Reveals a Role of Squalene Synthase in TGFβ Signaling and Cardiomyogenesis"}]},{"@id":"https://cir.nii.ac.jp/crid/1360846640949702912","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282679650507904","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"ja","@value":"小児期に発症し重篤な左心不全症状を呈した不整脈原性右室心筋症の一例"},{"@language":"en","@value":"A Pediatric Case of Arrhythmogenic Right Ventricular Cardiomyopathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1390857512433221248","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"ja","@value":"遺伝子に刻まれた旅の記憶"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1016/j.ajhg.2008.01.010"},{"@type":"CROSSREF","@value":"10.1002/ana.22338_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.1096/fj.202100800r_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.5105/jse.42.201_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.1016/j.joa.2016.01.006_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.1002/anie.202100523_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.1016/j.jjcc.2015.10.013_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"},{"@type":"CROSSREF","@value":"10.9794/jspccs.32.171_references_DOI_DbdYOp5TRfVh7Oeyp8PyzgR8vEP"}]}