{"id":"hum0079","version":1,"url":"https://humandbs.dbcls.jp/research/hum0079/v1","datePublished":"2022-02-18","versions":[{"version":1,"datePublished":"2022-02-18"}],"title":{"ja":"神経筋変性疾患の遺伝子解析研究","en":"Genetic analysis in neurodegeneraive disorders"},"summary":{"aims":{"ja":"封入体筋炎筋発現プロファイルにより炎症と変性の病態を解明すること","en":"To elucidate the pathogenesis of inclusion body myositis"},"methods":{"ja":"封入体筋炎症例、多発筋炎症例、筋疾患の無い対照者の筋組織を用いたRNA-sequencing","en":"RNA-sequencing analysis in 53 patients with inclusion body myositis, 6 patients with polymyositis, and 9 controls"},"targets":{"ja":"封入体筋炎症例、多発筋炎症例、筋疾患の無い対照者","en":"Patients with inclusion body myositis, patients with polymyositis, and controls/Muscle biopsy samples"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"封入体筋炎：53症例\n多発筋炎：6症例\n対照者：9名\n（日本人）","en":"53 inclusion body myositis patients\n6 polymyositis patients\n9 controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"封入体筋炎53症例、多発筋炎6症例、および筋疾患の無い対照者9名の筋組織から抽出したRNAを用いたRNA-sequencing解析結果をFastqファイルにて提供する（Paired-end）。","en":"RNAs extracted from skeletal muscle samples obtained from inclusion body myositis patients, polymyositis patients, and controls were used for RNA-sequencing (Paired-end). Fastq files are provided."},"dataProviders":[{"name":{"ja":"後藤 順","en":"Jun Goto"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 神経内科学","en":"Department of Neurology, The University of Tokyo, Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"次世代シーケンサーを用いた封入体筋炎筋発現プロファイルによる炎症と変性の病態解明","en":"Expression profiling study in inclusion body myositis employing next-generation sequencer"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["26461265"]}],"relatedPublications":[{"title":"Muscle transcriptomics shows overexpression of cadherin 1 in inclusion body myositis","doi":"https://doi.org/10.1002/ana.26304","datasets":["JGAD000068"]}],"datasets":["JGAD000068"],"controlledAccessUsers":[{"principalInvestigator":{"en":"pietro fratta"},"affiliation":{"en":"Institute of Neurology, university college london"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"en":"TDP-43 pathology and loss of function in the skeletal muscle"},"periodStart":"2022-06-07","periodEnd":"2025-09-22","datasets":["JGAD000068"]},{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000068"]}]}