{"id":"hum0070","version":1,"url":"https://humandbs.dbcls.jp/research/hum0070/v1","datePublished":"2018-05-11","versions":[{"version":1,"datePublished":"2018-05-11"}],"title":{"ja":"バート・ホッグ・デュベ症候群の分子病態解明と新規の診断マーカーおよび治療標的分子の探索研究","en":"Molecular analysis of Birt-Hogg-Dube syndrome: Identification of new diagnostic marker and therapeutic target"},"summary":{"aims":{"ja":"Birt-Hogg-Dube 症候群に発症した腎がんにおける遺伝子変異を明らかにする。","en":"Identification of gene mutations in Birt-Hogg-Dube (BHD) associated kidney cancer"},"methods":{"ja":"全エキソン解析","en":"Whole exome sequencing"},"targets":{"ja":"Birt-Hogg-Dube 症候群15症例","en":"15 BHD-associated kidney cancers"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"バート・ホッグ・デュベ症候群：15症例\n（日本人）","en":"15 Birt-Hogg-Dube associated kidney cancer\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"バート・ホッグ・デュベ症候群に発症した腎臓がん腫瘍組織及び非腫瘍組織（正常腎組織）から抽出したDNAを用いたExome解析の結果をbamファイルにて提供する。Agilent SureSelect v.5 + lncRNA kitを用いてExon領域にしぼりIllumina [HiSeq 2000]にて平均長100塩基のDNA断片を解読した（Paired-end）。","en":"DNAs extracted from Birt-Hogg-Dube (BHD) associated kidney cancer samples and normal kidney samples were used for the whole exome sequencing (bam files). Exons were narrowed down by using of Agilent SureSelect v.5 + lncRNA kit and read by Illumina [HiSeq 2000] (paired-end: 100 bp)."},"dataProviders":[{"name":{"ja":"矢尾 正祐","en":"Masahiro Yao"},"organization":{"name":{"ja":"横浜市立大学大学院医学研究科・泌尿器科学","en":"Department of Urology, Yokohama City University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"バート・ホッグ・デュベ症候群の分子病態解明と新規の診断マーカーおよび治療標的分子の探索研究","en":"Elucidation of molecular pathogenesis and exploration for novel diagnostic marker and therapeutic target of Birt-Hogg-Dubé (BHD) syndrome-associated kidney cancer"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん研究シーズ戦略的育成プログラム（P-DIRECT）","en":"Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED)"},"grantIds":null}],"relatedPublications":[{"title":"BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.","doi":"https://doi.org/10.1093/hmg/ddy181","datasets":["JGAD000125"]}],"datasets":["JGAD000125"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"Maher Eamonn","en":"Eamonn Maher"},"affiliation":{"ja":"Maher Department of Medical Genetics, University of Cambridge","en":"Maher  Department of Medical Genetics, University of Cambridge"},"country":{"ja":"イギリス","en":"United Kingdom"},"researchTitle":{"ja":"Molecular Pathology of Human Genetic Disease","en":"Molecular Pathology of Human Genetic Disease (HumGenDis) (https://medgen.medschl.cam.ac.uk/research/molecular-pathology-of-human-genetic-disease-humgendis-study/)"},"periodStart":"2023-04-06","periodEnd":"2024-07-20","datasets":["JGAD000125"]}]}