{"id":"hum0146","version":1,"url":"https://humandbs.dbcls.jp/research/hum0146/v1","datePublished":"2019-02-19","versions":[{"version":1,"datePublished":"2019-02-19"}],"title":{"ja":"先天性インプリント異常症の診断と生殖医療の安全性評価","en":"Diagnosis of imprinting disorders and safety evaluation of assisted reproduction technologies (ART)"},"summary":{"aims":{"ja":"生殖補助医療を受けたシルバーラッセル症候群（Silver-Russell Syndrome：SRS）症例におけるメチル化変化を解明する","en":"To investigate DNA methylation change in Silver-Russell Syndrome (SRS) patients with assisted reproduction technologies (ART)"},"methods":{"ja":"Reduced Representation Bisulfite Sequencing (RRBS)","en":"Reduced Representation Bisulfite Sequencing (RRBS)"},"targets":{"ja":"生殖補助医療を受けたSRS症例、生殖補助医療を受けていないSRS症例、および、対照健常児","en":"SRS patients born after assisted reproduction technologies (ART), spontaneously conceived SRS patients, and spontaneously conceived children"},"url":{"ja":[{"url":"https://www.med.tohoku.ac.jp/about/laboratory/101.html","text":"https://www.med.tohoku.ac.jp/about/laboratory/101.html"}],"en":[{"url":"https://www.med.tohoku.ac.jp/english/laboratory/informative-genetics/","text":"https://www.med.tohoku.ac.jp/english/laboratory/informative-genetics/"}]}},"listingSummary":{"methods":{"ja":"メチル化","en":"Methylation profiling"},"targets":{"ja":"生殖補助医療を受けたSRS患者：5症例\n生殖補助医療を受けていないSRS患者：5症例\n対照健常児：10名\n（日本人）","en":"5 SRS patients born after ART\n5 spontaneously conceived SRS patients\n10 spontaneously conceived children\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RRBS）","en":"NGS\n(RRBS)"}},"releaseNote":{"ja":"生殖補助医療を受けたSilver-Russell Syndrome（SRS）症例、生殖補助医療を受けていないSRS症例、および対照健常児の末梢血から抽出したDNAを使用したメチレーション（RRBS）解析結果データ（Fastq）を提供する。","en":"DNAs extracted from SRS patients born after assisted reproduction technologies (ART), spontaneously conceived SRS patients, and spontaneously conceived children were used for Reduced Representation Bisulfite Sequencing (RRBS). Fastq files were provided."},"dataProviders":[{"name":{"ja":"有馬 隆博","en":"Takahiro Arima"},"organization":{"name":{"ja":"東北大学大学院医学系研究科 環境遺伝医学総合研究センター 情報遺伝学分野","en":"Department of Informative Genetics, Environment and Genome Research Center, Tohoku University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"先天性インプリント異常症の診断と生殖補助医療の安全性評価","en":"Molecular diagnosis of congenital imprinting disorders and associated with assisted reproductive technology (ART)"},"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":["JP17ek0109132h003"]},{"title":{"ja":"ART由来出生児の遺伝的安全性に関するエピゲノムコホート研究","en":"Epigenetic cohort study in the ART-derived children"},"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":["17H04335"]}],"relatedPublications":[{"title":"Association of four imprinting disorders and ART.","doi":"https://doi.org/10.1186/s13148-019-0623-3","datasets":["DRA007187"]}],"datasets":["DRA007187"],"controlledAccessUsers":[]}