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Uehara Tomoko
上原 朋子
Connect your ORCID iD
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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)
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
Affiliation (based on the past Project Information)
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2020 – 2021: 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
CNOT2 / 培養細胞 / 細胞内伝達系 / 知的障害 / C.elegans / 機能解析 / Caenorhabditis elegans / ntl-2 / CCR4-NOT複合体 / 知的障害症候群
…
More
Except Principal Investigator
…
More
武内・小崎症候群 / 巨大血小板 / 知的障害 / 血小板減少症 / リンパ浮腫 / 免疫不全 / CDC42 / 血小板低下 / 神経科学 / ゲノム
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Research Projects
(
2
results)
Research Products
(
4
results)
Co-Researchers
(
6
People)
Project Start Year (Newest)
Project Start Year (Oldest)
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 – 2022
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
2018
2017
All
Presentation
[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] 「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 mutation
2017
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
# of Projects (Dsc)
# of Projects (Asc)
1.
Takenouchi Toshiki
(60383741)
# of Collaborated Projects:
1 results
# of Collaborated Products:
3 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:
3 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
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