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Okubo Minoru  大久保 実

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… Alternative Names

大久保 実  オオクボ ミノル

OKUBO Minoru  大久保 実

MINORU Okubo  大久保 実

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Researcher Number 60241238
Affiliation (Current) 2025: (財)冲中記念成人病研究所, その他部局等, 研究員
Affiliation (based on the past Project Information) *help 2017 – 2019: (財)冲中記念成人病研究所, その他部局等, 研究員
2012 – 2014: 公益財団法人冲中記念成人病研究所, その他部局等, 研究員
2007: Okinaka Memorial Institute for Medical Research, Investigator
2005 – 2006: (財)冲中記念成人病研究所, 研究員
2002 – 2003: 財団法人冲中記念成人病研究所, 研究員 … More
2001: 冲中記念成人病研究所, 研究員
2000: (財)冲中記念成人病研究所, 研究員
2000: Okinaka Memorial Institute for Medical Research, Research Fellow, 研究員
1999: 財団法人 冲中記念成人病研究所, 研究員
1996: (財)冲中記念成人病研究所, 研究員
1995: 財団法人冲中記念成人病研究所, 研究員
1994: (財)冲中記念成人病研究所, 研究員
1993: (財)〓中記念成人病研究所, 研究員
1993: 冲中記念成人病研究所, 研究員
1992: 財団法人冲中記念成人病研究所, 研究員 Less
Review Section/Research Field
Principal Investigator
内分泌・代謝学 / Pediatrics / Pediatrics / Metabolomics
Except Principal Investigator
内科学一般
Keywords
Principal Investigator
AGL / グリコーゲン / HL / LPL / Glycogen debranching enzyme / 遺伝子変異 / 脱分枝酵素 / 糖原病III型 / 糖原病 / 遺伝子解析 … More / 遺伝子 / スプライシング / 遺伝・先天異常学 / atherosclerosis / metabolic syndrome / linids / internal medicine / genetics / メタボリック・シンドローム / 動脈硬化 / LRP5 / 代謝症候群 / 脂質 / 内科 / 遺伝学 / Ethnic groups / Glycogen / Genetic mutation / Glycogen storage disease / スプライシング変異 / ナンセンス変異 / グリコーゲン脱分枝酵素 / ハプロタイプ / 糟原病III型 / エスニックグループ / Glycogen-binding domain / Mutation / Glycogen storage disease type III / 組織特異的発現 / グリコーゲン結合部位 / キャリアー / 点変異 / glucose-6-phosphatase / 糖原病I型 / von Gierke病 / ミスセンス変異 / 低HDLコレステロール血症 / LCAT欠損症 / 一塩基置換 / III型高脂血症 / アポ蛋白E / 高中性脂肪血症 / アポ蛋白CII … More
Except Principal Investigator
LDL receptor / HLA antigen / Blood coagulation-fibrinolysis / Lipoprotein (a) / HDL-cholesterol / Serum cholesterol values / Coronary artery sclerosis / Familial hypercholesterolemia / 家族性高コレステロ-ル血症 / LDLレセプター遺伝子変異 / Lp(a) / 冠動脈硬化 / LDLレセプター / HLA抗原 / 凝固線溶系分子マーカー / 高Lp(a)血症 / HDL-コレステロール / 血清コレステロール値 / 冠動脈硬化症 / 家族性高コレステロール血症 Less
  • Research Projects

    (10 results)
  • Research Products

    (12 results)
  • Co-Researchers

    (5 People)
  •  For a treatment of glycogen storage disease type III by controlling glycogen accumulationPrincipal Investigator

    • Principal Investigator
      Okubo Minoru
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  Analysis on new mechanisms causing abnormal glycogenolysisPrincipal Investigator

    • Principal Investigator
      OKUBO Minoru
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  Molecular genetic studies on metabolic syndromePrincipal Investigator

    • Principal Investigator
      MINORU Okubo
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Metabolomics
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  Study on genetic mutations and their functions in glycogen storage disease type IIIPrincipal Investigator

    • Principal Investigator
      OKUBO Minoru
    • Project Period (FY)
      2001 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  Study on genetic diagnosis for glycogen storage disease type III and relationship between enzymatic activities and clinical manifestationsPrincipal Investigator

    • Principal Investigator
      OKUBO Minoru
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  von Gierke病患者の遺伝子解析Principal Investigator

    • Principal Investigator
      大久保 実
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      内分泌・代謝学
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  家族性LCAT欠損症の遺伝子解析Principal Investigator

    • Principal Investigator
      大久保 実
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      内分泌・代謝学
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  家族性III型高脂血症を惹起するアポリポ蛋白E2変異体の遺伝子解析Principal Investigator

    • Principal Investigator
      大久保 実
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      内分泌・代謝学
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  アポ蛋白CII欠損症患者の遺伝子解析Principal Investigator

    • Principal Investigator
      大久保 実
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      内分泌・代謝学
    • Research Institution
      Okinaka Memorial Institute for Medical Research
  •  Studies on the susceptibility to coronary artery sclerosis in patients with familial hypercholesterolemia

    • Principal Investigator
      MURASE Toshio
    • Project Period (FY)
      1991 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      内科学一般
    • Research Institution
      Okinaka Memorial Institute for Medical Research

All 2020 2015 2013 2012 2008 2007

All Journal Article Book

  • [Book] 新臨床内科学 [デスク判] 第10版 (矢﨑義雄、監修)第6章 代謝・栄養疾患 6. 先天性糖質代謝異常症 (p760-768)2020

    • Author(s)
      大久保 実
    • Total Pages
      9
    • Publisher
      医学書院
    • ISBN
      9784260038065
    • Data Source
      KAKENHI-PROJECT-17K10066
  • [Book] Chylomicronemia(including type III hyperlipoproteinemia)2008

    • Author(s)
      Okubo M
    • Publisher
      Hormone to Rinsyo Igaku no Sekai sya, Tokyo
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Book] 脂質代謝異常症診療の新展開(ホルモンと臨床、56巻3号)2008

    • Author(s)
      大久保 実
    • Total Pages
      10
    • Publisher
      医学の世界社(印刷中)
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Book] メタボリックシンドローム概論(加藤規弘編)2007

    • Author(s)
      大久保 実
    • Publisher
      メヂカルフレンド社
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Book] メタボリックシンドローム概論(加藤規弘 編)2007

    • Author(s)
      大久保 実
    • Publisher
      メヂカルフレンド社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Journal Article] Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey2015

    • Author(s)
      Okubo M, Kalkan Ucar S, Podskarbi T, Murase T, Shin YS, Coker M
    • Journal Title

      Clin Chim Acta

      Volume: 439 Pages: 162-167

    • DOI

      10.1016/j.cca.2014.10.016

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24591534
  • [Journal Article] A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.2015

    • Author(s)
      Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C
    • Journal Title

      CMAJ

      Volume: 187 Issue: 2 Pages: E68-E73

    • DOI

      10.1503/cmaj.140840

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24591534
  • [Journal Article] Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.2013

    • Author(s)
      Kondo Y, Usui H, Ishige-Wada M, Murase T, Owada M, Okubo M
    • Journal Title

      Clin Chim Acta

      Volume: 印刷中 Pages: 19-21

    • DOI

      10.1016/j.cca.2013.05.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591534
  • [Journal Article] 糖原病III型2012

    • Author(s)
      大久保 実
    • Journal Title

      日本臨牀

      Volume: 新領域別症候群シリーズ19 Pages: 47-50

    • Data Source
      KAKENHI-PROJECT-24591534
  • [Journal Article] A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency2007

    • Author(s)
      Okubo M, et. al.
    • Journal Title

      Molecular Genetics and Metabolism 92

      Pages: 229-233

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Journal Article] A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency2007

    • Author(s)
      Okubo M, et. al.
    • Journal Title

      Molecular Genetics and Metabolism peer-reviewed 92

      Pages: 229-23

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17590951
  • [Journal Article] Lipid metabolism in metabolic syndrome2007

    • Author(s)
      Okubo M
    • Journal Title

      Metabolic syndrome(Kato N, editor) Medical friend, Co., Tokyo

      Pages: 58-70

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17590951
  • 1.  MURASE Toshio (60107612)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 2.  TSUKADA Masayasu (90072595)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 3.  KOBAYASHI Tetsuro (30113442)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 4.  EBARA Tetsu (40307004)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 5.  SIKI Akira
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results

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