{"id":"hum0514","version":1,"url":"https://humandbs.dbcls.jp/research/hum0514/v1","datePublished":"2025-09-22","versions":[{"version":1,"datePublished":"2025-09-22"}],"title":{"ja":"骨格筋メッセンジャーRNAの発現解析による神経・筋疾患の病態解明","en":"Analysis of skeletal muscle messenger RNA expression to elucidate pathophysiology of neuromuscular diseases"},"summary":{"aims":{"ja":"神経・筋疾患の骨格筋をはじめとする様々な組織を用いた病態に関与すると考えられる種々のメッセンジャーRNAの発現量やスプライシング様式などを解析することで、疾患による差異などの検討による病態の詳細な理解・正確な診断・治療標的の発見などに役立てる。","en":"Using different tissues, including skeletal muscle, from patients with neuromuscular diseases, we are analysing the expression levels and splicing patterns of several messenger RNAs thought to be involved in the pathogenesis. By studying disease-related differences, this research aims to contribute to a deeper understanding of disease mechanisms, accurate diagnosis and the identification of therapeutic targets."},"methods":{"ja":"凍結肝組織より抽出したtotal RNAを用いたRNA-seq解析","en":"RNA-seq"},"targets":{"ja":"筋強直性ジストロフィー1型（Myotonic Dystrophy Type 1：DM1）11症例、対照 9症例","en":"11 myotonic dystrophy type 1 (DM1) patients, 9 control patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"筋強直性ジストロフィー1型（DM1）：11症例\nDM1以外の神経・筋疾患：9症例\n（日本人）","en":"11 myotonic dystrophy type 1 patients\n9 control patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"筋強直性ジストロフィー1型（DM1）11症例、対照（DM1以外の神経・筋疾患の罹患者）9症例の凍結肝組織より抽出したtotal RNAを用いたRNA-seq解析データをfastq、tabファイルにて提供する。","en":"RNA extracted from frozen postmortem liver tissue of 11 myotonic dystrophy type 1 (DM1) patients and 9 control patients were used for RNA sequencing analysis. Fastq and tab files are provided."},"dataProviders":[{"name":{"ja":"高橋 正紀","en":"Masanori P Takahashi"},"organization":{"name":{"ja":"大阪大学大学院 医学系研究科 生体病態情報科学講座 臨床神経生理学","en":"Department of Clinical Laboratory and Biomedical Sciences, Faculty of Medicine, Clinical Neurophysiology, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"筋強直性ジストロフィーの自然歴とバイオマーカー研究-国際協調と先天性を含めた全年齢化","en":"Natural history and biomarker study of myotonic dystrophy- international harmonization and expansion to all ages including congenital form"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ek0109619"]},{"title":{"ja":"レジストリと連携した筋強直性ジストロフィーの自然歴およびバイオマーカー研究","en":"Natural history and biomarker study of myotonic dystrophy in conjunction with registry"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ek0109474"]}],"relatedPublications":[{"title":"Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1","doi":"https://doi.org/10.1093/hmg/ddaf124","datasets":["JGAD000956"]}],"datasets":["JGAD000956"],"controlledAccessUsers":[]}