{"id":"hum0411","version":1,"url":"https://humandbs.dbcls.jp/research/hum0411/v1","datePublished":"2023-07-18","versions":[{"version":1,"datePublished":"2023-07-18"}],"title":{"ja":"対応可能（actionable）な内分泌疾患（腫瘍性のものを含む）の次世代シーケンサーを用いた分子生物学的解析による分子診断の検討","en":"Investigation of molecular diagnosis by molecular biological analysis using next-generation sequencer for actionable endocrine diseases (including neoplastic diseases)"},"summary":{"aims":{"ja":"Fructose-1,6-bisphosphatase（FBPase）欠損症の病態解明","en":"Elucidation of the molecular mechanism of fructose-1,6-bisphosphatase (FBPase) deficiency"},"methods":{"ja":"末梢血から抽出したDNAを用いた全エクソーム解析","en":"Whole exome analysis using DNAs extracted from the peripheral blood cells"},"targets":{"ja":"小児期より原因不明の乳酸アシドーシスを伴う低血糖を繰り返していたFBPase欠損症1症例とその家族（父、母、妹）","en":"FBPase deficiency patient and its family member (father, mother, sister)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"FBPase欠損症：1症例\n家族：3名\n（日本人）","en":"FBPase deficiency: 1 case\n3 family members\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"FBPase欠損症1症例とその家族の末梢血から抽出したDNAを用いたwhole exome sequencing解析データをbamファイルにて提供する。","en":"DNAs extracted from peripheral blood cells from an FBPase deficiency patient and its family (father, mother, sister) were used for whole exome sequencing analysis. Bam files are provided."},"dataProviders":[{"name":{"ja":"田中 知明","en":"Tomoaki Tanaka"},"organization":{"name":{"ja":"千葉大学大学院医学研究院 分子病態解析学","en":"Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University"}}}],"researchProjects":[{"name":{"ja":"FBPase欠損症の分子病態解明/田中知明研究室","en":"Molecular Pathophysiology of FBPase Deficiency / Tomoaki Tanaka Laboratory"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"ミトコンドリア複合体と制御メカニズム解析から捉える肥満・糖尿病の分子病態研究","en":"Elucidation of molecular pathogenesis of obesity and diabetes via mitochondrial complex and its regulatory mechanism analyses"},"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":["19H03708"]},{"title":{"ja":"一細胞解析と空間的トランスクリプトームによる肝臓糖代謝-免疫連関機構の解明","en":"Elucidation of the mechanism of liver glucose metabolism-immune linkage by single cell analysis and spatial transcriptomics"},"agency":{"ja":"科学研究費補助金 挑戦的研究（開拓）","en":"KAKENHI Grant-in-Aid for Challenging Research (Pioneering)"},"grantIds":["23K17429"]}],"relatedPublications":[{"title":"Identification of genotype-biochemical phenotype correlations associated with fructose1,6-bisphosphatase deficiency","doi":"https://doi.org/10.1038/s42003-023-05160-y","datasets":["JGAD000754"]}],"datasets":["JGAD000754"],"controlledAccessUsers":[]}