{"id":"hum0131","version":1,"url":"https://humandbs.dbcls.jp/research/hum0131/v1","datePublished":"2018-11-20","versions":[{"version":1,"datePublished":"2018-11-20"}],"title":{"ja":"発達障害のエピゲノム解析","en":"The epigenetics of neurodevelopmental disorders"},"summary":{"aims":{"ja":"ウィリアム症候群（Williams Syndrome：WS）におけるトランスクリプトーム解析","en":"Transcriptome analysis for Williams Syndrome (WS)"},"methods":{"ja":"WS患者および成人健常者から抽出した血液から抽出したRNAを用いたRNA-Sequencing解析","en":"RNA-sequencing"},"targets":{"ja":"WS6症例と成人健常者8名","en":"WS patients and healthy adult individuals"},"url":{"ja":[{"url":"https://www.kyoto-u.ac.jp/ja/research/research_results/2018/181026_1.html","text":"https://www.kyoto-u.ac.jp/ja/research/research_results/2018/181026_1.html"}],"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"Williams症候群：6症例\n対照健常者：8名\n（日本人）","en":"6 Williams syndromes\n8 healthy contorols\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"ウィリアム症候群6症例および成人健常者8名の末梢血から抽出したRNAを用いたRNA-Seq解析データをfastqおよびtxtファイルにて提供する。Ion Total RNA-Seq Kit v2によるRNAライブラリ作製後、Thermo Fisher Scientific [Ion Proton]にて平均長100 bpを読んだ（Single-end）。","en":"RNAs were extracted from peripheral blood cells obtained from 6 Williams Syndrome patients and 8 healthy adult contorols. Libraries for RNA-seq were prepared with Ion Total RNA-Seq Kit v2 and RNA-seq was performed with Thermo Fisher Scientific [Ion Proton] (100 bp, Single-end). RNA-seq data are provided as fastq and txt files."},"dataProviders":[{"name":{"ja":"木村 亮","en":"Ryo Kimura"},"organization":{"name":{"ja":"京都大学大学院医学研究科 形態形成機構学","en":"Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"エピゲノム創薬による広汎性発達障害の克服","en":"Drug discovery for autism spectrum disorder based on epigenetic research"},"agency":{"ja":"日本医療研究開発機構 革新的先端研究開発支援事業 ユニットタイプ（AMED-CREST）","en":"Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP16gm0510008"]},{"title":{"ja":"遺伝子発現制御ネットワークに着目したウィリアムス症候群の病態解明と治療への応用","en":"Integrative network analysis of Williams syndrome"},"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":["16K09965"]}],"relatedPublications":[{"title":"Integrative network analysis reveals biological pathways associated with Williams syndrome","doi":"https://doi.org/10.1111/jcpp.12999","datasets":["JGAD000143"]}],"datasets":["JGAD000143"],"controlledAccessUsers":[{"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":["JGAD000143"]}]}