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Uehara Tomoko  上原 朋子

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… Alternative Names

上原 朋子  ウエハラ トモコ

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Researcher Number 30767124
Other IDs
Affiliation (Current) 2025: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 客員研究員
Affiliation (based on the past Project Information) *help 2025: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 客員研究員
2023: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 客員研究員
2020 – 2022: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 非常勤研究員
2016 – 2018: 慶應義塾大学, 医学部(信濃町), 助教
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related
Except Principal Investigator
Pediatrics
Keywords
Principal Investigator
知的障害症候群 / CCR4-NOT複合体 / ntl-2 / Caenorhabditis elegans / C.elegans / 細胞内伝達系 / 知的障害 / 先天異常症候群 / モデルマウス / 培養細胞 / 機能解析 / CNOT2 … More
Except Principal Investigator
… More ゲノム / 神経科学 / 血小板低下 / CDC42 / 免疫不全 / リンパ浮腫 / 血小板減少症 / 知的障害 / 巨大血小板 / 武内・小崎症候群 Less
  • Research Projects

    (3 results)
  • Research Products

    (6 results)
  • Co-Researchers

    (7 People)
  •  モデルマウスを用いたCCR4-NOT複合体の機能破綻と神経発達症発症機序の解明Principal Investigator

    • Principal Investigator
      上原 朋子
    • Project Period (FY)
      2025 – 2027
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Institute for Developmental Research Aichi Developmental Disability Center
  •  線虫を用いたCNOT2遺伝子の正常神経発生における役割解明Principal Investigator

    • Principal Investigator
      上原 朋子
    • Project Period (FY)
      2020 – 2024
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Institute for Developmental Research Aichi Developmental Disability Center
  •  Pathogenetics of Takenouchi-Kosaki syndrome

    • Principal Investigator
      Takenouchi Toshiki
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University

All 2020 2019 2018 2017

All Journal Article Presentation

  • [Journal Article] Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.2019

    • Author(s)
      Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O'Connor BC, Yoshina S, Mitani S, Kosaki K, Takenouchi T.
    • Journal Title

      Sci Rep.

      Volume: 9 Issue: 1 Pages: 4418-4418

    • DOI

      10.1038/s41598-019-40988-7

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K18135, KAKENHI-PROJECT-16H05123, KAKENHI-PROJECT-16K09974
  • [Presentation] CNOT2遺伝子変異に伴う 知的障害症候群患者の臨床像2020

    • Author(s)
      上原朋子, 土橋隆俊, 大門由美, 鈴木寿人, 山田茉未子, 武内俊樹, 小崎健次郎
    • Organizer
      日本小児科学会
    • Data Source
      KAKENHI-PROJECT-20K16866
  • [Presentation] Mechanistic basis of Takenouchi-Kosaki syndrome: Electron microscopic studies of platelets in patients and functional studies in model organism2018

    • Author(s)
      Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki
    • Organizer
      American Society of Human Genetics 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09974
  • [Presentation] 「武内小崎症候群:表現型スペクトラムと発症機序の検討」2018

    • Author(s)
      武内俊樹、上原朋子、小崎健次郎
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K09974
  • [Presentation] Establishing a new syndromic form of thrombocytopenia due to CDC42 mutation2017

    • Author(s)
      武内俊樹、上原朋子、小崎健次郎
    • Organizer
      第120回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K09974
  • [Presentation] 知的障害と巨大血小板性血小板減少症を呈しCDC42遺伝子異常を有する新規疾患2017

    • Author(s)
      武内俊樹、岡本伸彦、上原朋子、高橋孝雄、小崎健次郎
    • Organizer
      第59回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K09974
  • 1.  Takenouchi Toshiki (60383741)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 2.  SUZUKI Hidenori
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 3.  MITANI Shohei
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 4.  KOSAKI Kenjiro
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 5.  OKAMOTO Nobuhiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 6.  Kondoh Tatsuro
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  YOSHINA Sawako
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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