{"id":"hum0378","version":1,"url":"https://humandbs.dbcls.jp/research/hum0378/v1","datePublished":"2024-09-09","versions":[{"version":1,"datePublished":"2024-09-09"}],"title":{"ja":"溶血性貧血の病態解明を目指した基礎研究","en":"Basic research to elucidate the pathogenesis of hemolytic anemia"},"summary":{"aims":{"ja":"溶血性貧血の中でも特に、寒冷凝集素症（cold agglutinin disease：CAD）や発作性夜間血色素尿症（paroxysmal nocturnal hemoglobinuria：PNH）クローンが検出されるような病態に関して、そのクローン拡大のメカニズムを検証することを目的としている。患者検体をwhole-exome sequencing（WES）、RNA-seq、ChIP-seqやシングルセル解析を行い、遺伝子変異、遺伝子発現、融合遺伝子の検出、エピジェネティクスの観点から俯瞰的に解析を行い、その病態を明らかにする。","en":"To investigate the mechanisms of clonal expansion in hemolytic anemia, especially in conditions where cold agglutinin disease (CAD) and paroxysmal nocturnal hemoglobinuria (PNH) clones are detected. Patient samples will be subjected to whole-exome sequencing (WES), RNA-seq, ChIP-seq, and single-cell analyses to detect gene mutations, gene expression, fusion genes, and epigenetics."},"methods":{"ja":"診断時に採取した頬粘膜および骨髄検体（bone marrow：BM）から抽出したDNAを対象としたWESによる遺伝子変異の検討","en":"DNAs extracted from buccal mucosa and bone marrow aspirates collected at the time of diagnosis were examined for genetic mutations by WES."},"targets":{"ja":"CAD 2症例","en":"2 CADs"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"寒冷凝集素症：2症例\n（日本人）","en":"Cold agglutinin disease: 2 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"寒冷凝集素症2症例の頬粘膜および骨髄検体より抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from buccal mucosa and bone marrow aspirates from patients with cold agglutinin disease were used for the whole exome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"小山 大輔","en":"Daisuke Koyama"},"organization":{"name":{"ja":"福島県立医科大学 血液内科学講座","en":"Department of hematology, Fukushima Medical University"}}}],"researchProjects":[{"name":{"ja":"溶血性貧血の病態解明を目指した基礎研究","en":"Basic research to elucidate the pathogenesis of hemolytic anemia"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"白血病における細胞内代謝制御機構の構造的基盤","en":"Structural basis of intracellular metabolic regulation in leukemia"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["22K08514"]},{"title":{"ja":"白血病幹細胞形成の新たなメカニズムの解明 −LSD1 による代謝リプログラミング−","en":"The Discovery of a Novel Mechanism in Leukemic Stem Cell Formation: Metabolic Reprogramming by LSD1"},"agency":{"ja":"公益財団法人 武田科学振興財団 医学系研究助成 がん領域（基礎）","en":"Takeda Science Foundation"},"grantIds":null}],"relatedPublications":[{"title":"A case of cold agglutinin syndrome associated with chronic lymphocytic leukaemia harbouring mutations in CARD11 and KMT2D","doi":"https://doi.org/10.1007/s12185-023-03608-9","datasets":["JGAD000709"]},{"title":"Lymphoplasmacytic lymphoma presenting cold agglutinin syndrome: Clonal expansion of KMT2D and IGHV4-34 mutations after COVID-19","doi":"https://doi.org/10.1111/bjh.19106","datasets":["JGAD000741"]}],"datasets":["JGAD000709","JGAD000741"],"controlledAccessUsers":[]}