YAMASHITA MOTOI 山下基

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Yamashita Motoi 山下基

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Researcher Number	70869122
Other IDs
Affiliation (Current)	2025: 国立研究開発法人理化学研究所, 生命医科学研究センター, 基礎科学特別研究員 2025: 東京科学大学, その他の部局等, 非常勤講師
Affiliation (based on the past Project Information) *help	2023 – 2024: 国立研究開発法人理化学研究所, 生命医科学研究センター, 基礎科学特別研究員 2022: 国立研究開発法人理化学研究所, 生命医科学研究センター, 研究員 2021: 東京医科歯科大学, 東京医科歯科大学病院, 助教 2020: 東京医科歯科大学, 医学部附属病院, 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator IKZF / AIOLOS / 先天性免疫異常症 / HELIOS / IKAROS / IKZFファミリー / ヘテロダイマー / 転写因子 / リンパ球分化 / 原発性免疫不全症 / IKZF転写因子ファミリー / AIOLOS異常症 / IKZF3

Elucidation of the molecular pathogenesis of AIOLOS-associated and IKZF-associated inborn errors of immunity using mouse modelsPrincipal Investigator
- Principal Investigator
  
  山下基
- Project Period (FY)
  2024 – 2025
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Institute of Physical and Chemical Research
Investigation of lymphocyte differentiation defect caused by aberrant transcription programs in pathogenic IKZF variants.Principal Investigator
- Principal Investigator
  
  Yamashita Motoi
- Project Period (FY)
  2020 – 2023
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Institute of Physical and Chemical Research
  Tokyo Medical and Dental University

All 2024 2023 2022 2021

All Journal Article Presentation

[Journal Article] A Rare AIOLOS N160S Variant Causing IEI in Human2024
- Author(s)
  Ozdemir Oner、Dikici Ummugulsum、Yarar Murat Hakki、Yamashita Motoi、Morio Tomohiro
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 44 Issue: 2 Pages: 57-57
- DOI
  10.1007/s10875-024-01657-1
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K16884, KAKENHI-PROJECT-21H02879
[Journal Article] Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function2023
- Author(s)
  Chang Jingjie、Yamashita Motoi、Padhi Aditya K.、Zhang Kam Y. J.、Taniuchi Ichiro
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 14 Pages: 1239779-1239779
- DOI
  10.3389/fimmu.2023.1239779
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16884, KAKENHI-PLANNED-19H05747
[Journal Article] AIOLOS Variants Causing Immunodeficiency in Human and Mice2022
- Author(s)
  Yamashita Motoi、Morio Tomohiro
- Journal Title
  
  Frontiers in Immunology
  
  Volume: 13 Pages: 866582-866582
- DOI
  10.3389/fimmu.2022.866582
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16884, KAKENHI-PROJECT-21H02879
[Journal Article] A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS2021
- Author(s)
  Yamashita Motoi、Kuehn Hye Sun、Okuyama Kazuki、Okada Satoshi、Inoue Yuzaburo、Takagi Masatoshi、Kanegane Hirokazu、Takeuchi Masahiro、Shimojo Naoki、Tsumura Miyuki、Padhi Aditya K.、Zhang Kam Y. J.、Boisson Bertrand、Casanova Jean-Laurent、Ohara Osamu、Rosenzweig Sergio D.、Taniuchi Ichiro、Morio Tomohiro
- Journal Title
  
  Nature Immunology
  
  Volume: 22 Issue: 7 Pages: 893-903
- DOI
  10.1038/s41590-021-00951-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-19H05747, KAKENHI-PROJECT-19H03614, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-21H02879, KAKENHI-PROJECT-20K07459, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K16884
[Journal Article] T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients2021
- Author(s)
  Kuehn Hye Sun、Chang Jingjie、Yamashita Motoi、Niemela Julie E.、Zou Chengcheng、Okuyama Kazuki、Harada Junji、Stoddard Jennifer L.、Nunes-Santos Cristiane J.、Boast Brigette、Baxter Ryan M.、Hsieh Elena W.Y.、Garofalo Mary、Fleisher Thomas A.、Morio Tomohiro、Taniuchi Ichiro、Dutmer Cullen M.、Rosenzweig Sergio D.
- Journal Title
  
  Journal of Experimental Medicine
  
  Volume: 218 Issue: 12
- DOI
  10.1084/jem.20211118
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-19H05747, KAKENHI-PROJECT-21H02879, KAKENHI-PROJECT-20K07459, KAKENHI-PROJECT-20K16884
[Journal Article] Inborn errors of IKAROS and AIOLOS.2021
- Author(s)
  Yamashita M and Morio T.
- Journal Title
  
  Curr Opin Immunol .
  
  Volume: 72 Pages: 239-248
- DOI
  10.1016/j.coi.2021.06.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21H02879, KAKENHI-PROJECT-20K16884
[Presentation] ALL predisposition or inborn errors of immunity?: Germline variants of IKAROS and AIOLOS.2023
- Author(s)
  Motoi Yamashita
- Organizer
  第65回日本小児血液・がん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20K16884
[Presentation] リンパ球転写因子の異常による先天性免疫異常症患者モデルマウスから迫る病態解明2023
- Author(s)
  山下基
- Organizer
  第51回日本臨床免疫学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-20K16884

1. 谷内一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
2. 森尾友宏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMASHITA MOTOI 山下 基

Yamashita Motoi 山下 基

Research Projects

Research Products

Co-Researchers

Elucidation of the molecular pathogenesis of AIOLOS-associated and IKZF-associated inborn errors of immunity using mouse modelsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Investigation of lymphocyte differentiation defect caused by aberrant transcription programs in pathogenic IKZF variants.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] A Rare AIOLOS N160S Variant Causing IEI in Human2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] AIOLOS Variants Causing Immunodeficiency in Human and Mice2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Inborn errors of IKAROS and AIOLOS.2021

Author(s)

Journal Title

DOI

Data Source

[Presentation] ALL predisposition or inborn errors of immunity?: Germline variants of IKAROS and AIOLOS.2023

Author(s)

Organizer

Data Source

[Presentation] リンパ球転写因子の異常による先天性免疫異常症 患者モデルマウスから迫る病態解明2023

Author(s)

Organizer

Data Source

YAMASHITA MOTOI 山下基

Yamashita Motoi 山下基

[Presentation] リンパ球転写因子の異常による先天性免疫異常症患者モデルマウスから迫る病態解明2023