{"id":"hum0269","version":2,"url":"https://humandbs.dbcls.jp/research/hum0269/v2","datePublished":"2024-03-18","versions":[{"version":1,"datePublished":"2021-05-25"},{"version":2,"datePublished":"2024-03-18"}],"title":{"ja":"遺伝性心血管疾患の感受性遺伝子解析研究","en":"Sensitive gene analysis of hereditary cardiovascular disease"},"summary":{"aims":{"ja":"遺伝性心血管疾患の病態解明","en":"Elucidation of the pathophysiology of patients with hereditary cardiovascular disease"},"methods":{"ja":"遺伝性心血管疾患10＋20症例の末梢血から抽出したDNAを用いた全エクソーム解析、ならびに、遺伝性心血管疾患3症例の心筋サンプルから抽出したRNAを用いたRNAseq解析","en":"Whole exome sequencing analysis and RNA-seq analysis"},"targets":{"ja":"遺伝性心血管疾患症例","en":"hereditary cardiovascular disease"},"url":{"ja":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=37180","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=37180"}],"en":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=37180","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=37180"}]}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"遺伝性心血管疾患：13＋20症例\n（日本人）","en":"hereditary cardiovascular disease: 13 + 20 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"遺伝性心血管疾患20症例の末梢血から抽出したDNAを用いたWhole Exome Sequencing解析データをfastqファイルにて提供する。","en":"A whole exome sequencing analysis was performed on 20 patients with hereditary cardiovascular disease using DNAs extracted from peripheral blood cells. Fastq format files are provided."},"dataProviders":[{"name":{"ja":"朝野 仁裕","en":"Yoshihiro Asano"},"organization":{"name":{"ja":"大阪大学 大学院医学系研究科循環器内科学","en":"Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University"}}}],"researchProjects":[{"name":{"ja":"病態分子探索グループ","en":"Molecular Genetics and Drug Discovery Group"},"url":{"ja":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34297","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34297"}],"en":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34297","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34297"}]}}],"grants":[{"title":{"ja":"遺伝性心筋症ゲノム解析および横断オミックス解析による新規分子標的の同定と創薬開発","en":"Identification of de novo molecular targets and drug discovery by genome analysis and trans-omics analysis of hereditary cardiomyopathy"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["19H03652"]},{"title":{"ja":"全ゲノム解析基盤による機能・情報統合解析と新規心筋症遺伝子の同定および機序解明","en":"Functional and informatics integration analysis based on whole genome analysis platform and identification of novel cardiomyopathy genes and elucidation of their mechanisms"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["22H03067"]},{"title":{"ja":"AIを用いた重症心筋症に対する再生医療のPrecision medicineの実践","en":"Development of Autologous Skeletal Myoblast Cell Sheet Transplantation for Dilated Cardiomyopathy Aiming Precision Medicine"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生医療実現拠点ネットワークプログラム","en":"Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22bm040070"]},{"title":{"ja":"難治性心筋症疾患特異的iPS細胞を用いた集学的創薬スクリーニングシステムの開発と実践","en":"Drug discovery via development of multidisciplinary drug screening system by using disease specific-iPS cells derived from refractory cardiomyopathy"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生医療実現拠点ネットワークプログラム","en":"Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22bm0804008"]}],"relatedPublications":[{"title":"Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation","doi":"https://doi.org/10.1126/scitranslmed.abf3274","datasets":["JGAD000402"]}],"datasets":["JGAD000402","JGAD000691","JGAD000692","JGAD000693"],"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":["JGAD000402"]}]}