{"@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/1360004233458313472.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1038/s10038-019-0600-x"}},{"identifier":{"@type":"URI","@value":"http://www.nature.com/articles/s10038-019-0600-x.pdf"}},{"identifier":{"@type":"URI","@value":"http://www.nature.com/articles/s10038-019-0600-x"}},{"identifier":{"@type":"PMID","@value":"31004103"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2020167408"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1"}],"description":[{"notation":[{"@value":"Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Whole-exome sequencing of a female patient with unknown spastic paraplegia was performed to obtain a molecular diagnosis. As a result, a de novo heterozygous single-nucleotide deletion in PLP1 [NM_000533.5(PLP1_v001):c.783del; p.Thr262Leufs*20] was identified. RNA sequencing was performed in a patient-derived lymphoblastoid cell line, confirming mono-allelic expression of the mutated allele and abnormal inactivation of the wild-type allele. The patient-derived lymphoblastoid cell line was then treated with VX680 or 5azadC, which resulted in restored expression of the wild-type allele. These two agents thus have the potential to reverse inappropriately-skewed inactivation of the X-chromosome."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380004233458313732","@type":"Researcher","foaf:name":[{"@value":"Keiko Yamamoto-Shimojima"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004233458313604","@type":"Researcher","foaf:name":[{"@value":"Taichi Imaizumi"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004233458313730","@type":"Researcher","foaf:name":[{"@value":"Yusuke Aoki"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326230546560","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"30392418"},{"@type":"NRID","@value":"1000030392418"},{"@type":"NRID","@value":"9000019065368"},{"@type":"NRID","@value":"9000409327123"},{"@type":"NRID","@value":"9000345403587"},{"@type":"NRID","@value":"9000413555793"},{"@type":"NRID","@value":"9000000436623"},{"@type":"NRID","@value":"9000107388234"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0203816"}],"foaf:name":[{"@value":"Ken Inoue"}]},{"@id":"https://cir.nii.ac.jp/crid/1420282801196935424","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40264288"},{"@type":"NRID","@value":"1000040264288"},{"@type":"NRID","@value":"9000001741756"},{"@type":"NRID","@value":"9000409176033"},{"@type":"NRID","@value":"9000253108145"},{"@type":"NRID","@value":"9000412158919"},{"@type":"NRID","@value":"9000000171082"},{"@type":"NRID","@value":"9000252813073"},{"@type":"NRID","@value":"9000019185725"},{"@type":"NRID","@value":"9000000029301"},{"@type":"NRID","@value":"9000411001708"},{"@type":"NRID","@value":"9000258058514"},{"@type":"NRID","@value":"9000248221728"},{"@type":"NRID","@value":"9000021404372"},{"@type":"NRID","@value":"9000409476414"},{"@type":"NRID","@value":"9000411115289"},{"@type":"NRID","@value":"9000411485024"},{"@type":"NRID","@value":"9000000584685"},{"@type":"NRID","@value":"9000256893633"},{"@type":"NRID","@value":"9000411776471"},{"@type":"NRID","@value":"9000278462497"},{"@type":"NRID","@value":"9000409203941"},{"@type":"NRID","@value":"9000410615316"},{"@type":"NRID","@value":"9000401562349"},{"@type":"NRID","@value":"9000412297001"},{"@type":"NRID","@value":"9000382675310"},{"@type":"NRID","@value":"9000253177895"},{"@type":"NRID","@value":"9000006195596"},{"@type":"NRID","@value":"9000412033800"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/resmap0098165_1729"}],"foaf:name":[{"@value":"Tadashi Kaname"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004233458313474","@type":"Researcher","foaf:name":[{"@value":"Yusuke Okuno"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004233458313615","@type":"Researcher","foaf:name":[{"@value":"Hideki Muramatsu"}]},{"@id":"https://cir.nii.ac.jp/crid/1380004233458313617","@type":"Researcher","foaf:name":[{"@value":"Kohji Kato"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751137058304","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"20252851"},{"@type":"NRID","@value":"1000020252851"},{"@type":"CINII_AUTHOR_ID","@value":"DA18595236"},{"@type":"URI","@value":"https://ci.nii.ac.jp/author/DA18595236#entity"},{"@type":"URI","@value":"https://viaf.org/viaf/NII%7CDA18595236"},{"@type":"NRID","@value":"9000003459755"},{"@type":"NRID","@value":"9000019147730"},{"@type":"NRID","@value":"9000006512147"},{"@type":"NRID","@value":"9000255729886"},{"@type":"NRID","@value":"9000251861928"},{"@type":"NRID","@value":"9000414093301"},{"@type":"NRID","@value":"9000345403588"},{"@type":"NRID","@value":"9000405763345"},{"@type":"NRID","@value":"9000409506147"},{"@type":"NRID","@value":"9000413774187"},{"@type":"NRID","@value":"9000402502126"},{"@type":"NRID","@value":"9000283719518"},{"@type":"NRID","@value":"9000350547709"},{"@type":"NRID","@value":"9000401559703"},{"@type":"NRID","@value":"9000401560493"},{"@type":"NRID","@value":"9000256120177"},{"@type":"NRID","@value":"9000356509618"},{"@type":"NRID","@value":"9000401559917"},{"@type":"NRID","@value":"9000414093302"},{"@type":"NRID","@value":"9000414095614"},{"@type":"NRID","@value":"9000410885754"},{"@type":"NRID","@value":"9000241564007"},{"@type":"NRID","@value":"9000019188012"},{"@type":"NRID","@value":"9000401560620"},{"@type":"NRID","@value":"9000283719528"},{"@type":"NRID","@value":"9000311068509"},{"@type":"NRID","@value":"9000401560635"},{"@type":"NRID","@value":"9000413517615"},{"@type":"NRID","@value":"9000283719533"},{"@type":"NRID","@value":"9000001964178"},{"@type":"NRID","@value":"9000336385845"},{"@type":"NRID","@value":"9000401560603"},{"@type":"NRID","@value":"9000404344368"},{"@type":"NRID","@value":"9000256117707"},{"@type":"NRID","@value":"9000016663398"},{"@type":"NRID","@value":"9000401560058"},{"@type":"NRID","@value":"9000366515577"},{"@type":"NRID","@value":"9000401560086"},{"@type":"NRID","@value":"9000107387942"},{"@type":"NRID","@value":"9000411796993"},{"@type":"NRID","@value":"9000406041388"},{"@type":"NRID","@value":"9000256120188"},{"@type":"NRID","@value":"9000107387877"},{"@type":"NRID","@value":"9000107387179"},{"@type":"NRID","@value":"9000414555756"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/T_Yamamoto"}],"foaf:name":[{"@value":"Toshiyuki Yamamoto"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"14345161"},{"@type":"EISSN","@value":"1435232X"}],"prism:publicationName":[{"@value":"Journal of Human Genetics"}],"dc:publisher":[{"@value":"Springer Science and Business Media LLC"}],"prism:publicationDate":"2019-04-19","prism:volume":"64","prism:number":"7","prism:startingPage":"665","prism:endingPage":"671"},"reviewed":"false","dc:rights":["http://www.springer.com/tdm"],"url":[{"@id":"http://www.nature.com/articles/s10038-019-0600-x.pdf"},{"@id":"http://www.nature.com/articles/s10038-019-0600-x"},{"@id":"https://search.jamas.or.jp/link/ui/2020167408"}],"createdAt":"2019-04-19","modifiedAt":"2023-05-20","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Paraplegia","dc:title":"Paraplegia"},{"@id":"https://cir.nii.ac.jp/all?q=Chromosomes,%20Human,%20X","dc:title":"Chromosomes, Human, X"},{"@id":"https://cir.nii.ac.jp/all?q=Pelizaeus-Merzbacher%20Disease","dc:title":"Pelizaeus-Merzbacher Disease"},{"@id":"https://cir.nii.ac.jp/all?q=Decitabine","dc:title":"Decitabine"},{"@id":"https://cir.nii.ac.jp/all?q=Piperazines","dc:title":"Piperazines"},{"@id":"https://cir.nii.ac.jp/all?q=Cell%20Line","dc:title":"Cell Line"},{"@id":"https://cir.nii.ac.jp/all?q=Exome%20Sequencing","dc:title":"Exome Sequencing"},{"@id":"https://cir.nii.ac.jp/all?q=Humans","dc:title":"Humans"},{"@id":"https://cir.nii.ac.jp/all?q=Female","dc:title":"Female"},{"@id":"https://cir.nii.ac.jp/all?q=Child","dc:title":"Child"},{"@id":"https://cir.nii.ac.jp/all?q=Frameshift%20Mutation","dc:title":"Frameshift Mutation"},{"@id":"https://cir.nii.ac.jp/all?q=Myelin%20Proteolipid%20Protein","dc:title":"Myelin Proteolipid Protein"},{"@id":"https://cir.nii.ac.jp/all?q=Alleles","dc:title":"Alleles"}],"project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781901130880","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"16H05361"},{"@type":"JGN","@value":"JP16H05361"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16H05361/"}],"notation":[{"@language":"ja","@value":"先天性大脳白質形成不全症の新規細胞病態：ER-Golgi体輸送障害"},{"@language":"en","@value":"Impaired ER-Golgi trafficking as a novel cellular pathology for Pelizaeus-Merzbacher disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1040000782000355328","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"18K07803"},{"@type":"JGN","@value":"JP18K07803"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K07803/"}],"notation":[{"@language":"ja","@value":"染色体微細構造異常による神経発達障害の成因解明"},{"@language":"en","@value":"Elucidation of the mechanism for neurodevelopmental disorder derived from chromosomal microstructural abnormalities"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256938620032","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"17J40108"},{"@type":"JGN","@value":"JP17J40108"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17J40108/"}],"notation":[{"@language":"ja","@value":"ｉＰＳ細胞を用いた小児神経発達障害におけるシナプス病態の理解"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256950993280","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"17K18133"},{"@type":"JGN","@value":"JP17K18133"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K18133/"}],"notation":[{"@language":"ja","@value":"神経細胞ネットワーク機能の評価による神経発達障害の病態解明"},{"@language":"en","@value":"Elucidation of the pathophysiology of neurodevelopmental disorders by evaluating nerve cell network function"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256977097856","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"18K07863"},{"@type":"JGN","@value":"JP18K07863"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K07863/"}],"notation":[{"@language":"ja","@value":"新生児マス・スクリーニングを越える新生児超高速ゲノムスクリーニング法の開発"},{"@language":"en","@value":"Development of a newborn ultra-rapid genome screening system beyond newborn mass screening"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004233410164608","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication"}]},{"@id":"https://cir.nii.ac.jp/crid/1360009142775344128","@type":"Article","resourceType":"学術雑誌論文(journal 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Xq22"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825894334994816","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825896220724736","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A high-throughput screen of inactive X chromosome reactivation identifies the enhancement of DNA demethylation by 5-aza-2′-dC upon inhibition of ribonucleotide reductase"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107371264516608","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i>PLP1</i> duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388843599280512","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A high-throughput small molecule screen identifies synergism between DNA methylation and Aurora kinase pathways for X reactivation"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388843634660480","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1363670318220630272","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Classic Pelizaeus‐Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of <i>PLP1</i>"}]},{"@id":"https://cir.nii.ac.jp/crid/1363670320577095424","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Genetic and pharmacological reactivation of the mammalian inactive X chromosome"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951795689852800","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233268556670720","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233270586955520","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233271239552768","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Girl with signs of 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