{"id":"hum0436","version":1,"url":"https://humandbs.dbcls.jp/research/hum0436/v1","datePublished":"2024-02-06","versions":[{"version":1,"datePublished":"2024-02-06"}],"title":{"ja":"自閉症の発症原因解明のための遺伝子多形及び遺伝子転写についての研究","en":"Genetic polymorphism and gene transcriptome study on the etiology of autism"},"summary":{"aims":{"ja":"自閉スペクトラム症（Autism Spectrum Disorder：ASD）と対照者間の小脳組織における遺伝子発現の違いを年齢グループ別に分けて調査する","en":"To elucidate gene expression differences in the cerebellar tissues between patients with autism spectrum disorder (ASD) and control patients without ASD segmented by age."},"methods":{"ja":"RNA-seq解析によるmRNA の年齢別発現量ならびにアイソフォーム発現の調査","en":"RNA-seq analysis (the differences of mRNA expression level and mRNA isoform expression levels segmented by age)"},"targets":{"ja":"自閉症16症例、対照患者17名","en":"16 ASD patients and 17 control patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"自閉症：16症例\n対照者：17名\n（細胞株）","en":"Autistic disorder: 16 cases\n17 Controls\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"自閉症16症例、対照者17名の小脳組織より抽出したRNAを用いたRNA-seq解析データをfastqファイルにて提供する。","en":"RNAs extracted from the cerebellar tissues from 16 patients with autism spectrum disorder (ASD) and 17 control patients without ASD were used for RNA-sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"丸井 徹也","en":"Tetsuya Marui"},"organization":{"name":{"ja":"東京大学大学院 新領域創成科学研究科","en":"Department of Medical Genome Science, Graduate School of Frontier Sciences, The University of Tokyo"}}}],"researchProjects":[],"grants":[],"relatedPublications":[],"datasets":["JGAD000798"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"有田 正規","en":"Masanori Arita"},"affiliation":{"ja":"生命情報・DDBJ センター, 国立遺伝学研究所","en":"Bioinformation and DDBJ Center, National Institute of Genetics"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"DDBJ センターと NBDC による JGA 解析データの提供","en":"Provision of processed JGA data analyzed by DDBJ Center and NBDC"},"periodStart":"2021-10-07","periodEnd":"2030-03-31","datasets":["JGAD000798"]}]}