Takenouchi Toshiki 武内俊樹

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TAKENOUCHI Toshiki 武内俊樹

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Researcher Number	60383741
Affiliation (Current)	2025: 岡山大学, 医歯薬学域, 教授 2025: 慶應義塾大学, 医学部(信濃町), 講師
Affiliation (based on the past Project Information) *help	2017 – 2023: 慶應義塾大学, 医学部(信濃町), 講師 2018: 慶應義塾大学, 医学部(信濃町), 助教 2016: 慶應義塾大学, 医学部(信濃町), 助教 2012 – 2015: 慶應義塾大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Embryonic/Neonatal medicine / Medium-sized Section 52:General internal medicine and related fields / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics Except Principal Investigator Pediatrics
Keywords	Principal Investigator 新生児 / 脳炎 / 肝炎 / 遺伝子解析 / 血管障害 / 白質病変 / 小崎過成長症候群 / 血小板由来成長因子受容体 / 脳動脈瘤 / 冠状動脈瘤 … More / 動脈瘤 / 過成長 / 過成長症候群 / 血小板由来成長因子 / 疾患モデル動物 / 頭蓋縫合早期癒合症 / PDGFRB / 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 / アセチル基 / 虚血 / 低酸素 / 低体温療法 / 脳障害 / 低酸素虚血 … More Except Principal Investigator 小児神経 / アストロサイト / 細胞周期 / 大脳皮質 / 神経発生 Less

Metagenomic analysis of tissues and body fluids in neonatal hepatitis and encephalitisPrincipal Investigator
- Principal Investigator
  
  武内俊樹
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Keio University
PDGFRB異常による新規過成長症候群の病態解明と治療法開発Principal Investigator
- Principal Investigator
  
  武内俊樹
- Project Period (FY)
  2019 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Keio University
Mechanisms underlying gliogenesis of astrocytes in premature brain
- Principal Investigator
  
  Takahashi Takao
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Pathogenetics of Takenouchi-Kosaki syndromePrincipal Investigator
- 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
Comprehensive study of hypothermia in neonatal hypoxic-ischemic encephalopathyPrincipal Investigator
- Principal Investigator
  
  Takenouchi Toshiki
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Keio University
Research on mechanism of neonatal hypoxic-ischemic encephalopathy using microscopic mass-spectroscopyPrincipal Investigator
- Principal Investigator
  
  TAKENOUCHI Toshiki
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Keio University

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2013 Other

All Journal Article Presentation

[Journal Article] Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing2023
- Author(s)
  Yamada Mamiko、Okuno Hironobu、Okamoto Nobuhiko、Suzuki Hisato、Miya Fuyuki、Takenouchi Toshiki、Kosaki Kenjiro
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 66 Issue: 2 Pages: 104690-104690
- DOI
  10.1016/j.ejmg.2022.104690
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K19494
[Journal Article] Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency2023
- Author(s)
  Ogawa Eri、Hishiki Takako、Hayakawa Noriyo、Suzuki Hisato、Kosaki Kenjiro、Suematsu Makoto、Takenouchi Toshiki
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 35 Pages: 100968-100968
- DOI
  10.1016/j.ymgmr.2023.100968
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K05294, KAKENHI-PROJECT-22K19494
[Journal Article] Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome2020
- Author(s)
  Takenouchi Toshiki、Kodo Kazuki、Yamazaki Fumito、Nakatomi Hirofumi、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 185 Issue: 3 Pages: 999-1003
- DOI
  10.1002/ajmg.a.62027
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08329
[Journal Article] Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta2019
- Author(s)
  Takenouchi Toshiki、Okuno Hironobu、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  
  Volume: 181 Issue: 4 Pages: 650-657
- DOI
  10.1002/ajmg.c.31755
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08329
[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
[Journal Article] Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia.2016
- Author(s)
  Takenouchi T, Kosaki K.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 170 Issue: 10 Pages: 2578-9
- DOI
  10.1002/ajmg.a.37762
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09974
[Journal Article] Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia2015
- Author(s)
  2.Takenouchi T, Sugiura Y, Morikawa T, Nakanishi T, Nagahata Y, Sugioka T, Honda K, Kubo A, Hishiki T, Matsuura T, Hoshino T, Takahashi T, Suematsu M, and Kajimura M
- Journal Title
  
  Journal of Cerebral Blood Flow & Metabolism
  
  Volume: 35 Issue: 5 Pages: 1-12
- DOI
  10.1038/jcbfm.2014.253
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24500448, KAKENHI-PROJECT-25513008, KAKENHI-PLANNED-26111006, KAKENHI-PROJECT-26560469, KAKENHI-PROJECT-26860854
[Presentation] 遺伝性小児神経疾患の診断と治療：新規ヒト疾患の確立、迅速な遺伝子診断と治療可能疾患へのアプローチ2023
- Author(s)
  武内俊樹
- Organizer
  第79回日本小児神経学会関東地方会
- Invited
- Data Source
  KAKENHI-PROJECT-22K19494
[Presentation] 原因不明の重症新生児に対する迅速な網羅的遺伝子解析2023
- Author(s)
  武内俊樹
- Organizer
  第13回日本遺伝子診療学会遺伝子診断・検査技術推進フォーラム公開シンポジウム
- Invited
- Data Source
  KAKENHI-PROJECT-22K19494
[Presentation] モデルマウスを用いた新規ヒト過成長症候群の頭蓋顎顔面先天異常の解析と治療戦略2023
- Author(s)
  武内俊樹
- Organizer
  第63回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08329
[Presentation] 重症新生児に対する迅速なゲノム診断の現状と展望2023
- Author(s)
  武内俊樹
- Organizer
  第59回日本周産期・新生児医学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-22K19494
[Presentation] 新生児集中治療室における精緻・迅速な遺伝子診断の現状と展望2022
- Author(s)
  武内俊樹
- Organizer
  第45回日本小児遺伝学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-22K19494
[Presentation] IRUDを通じたdysmorphologyの新たな展開2021
- Author(s)
  武内俊樹
- Organizer
  日本人類遺伝学会第66回大会・第28回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-19K08329
[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] 「新規疾患概念の確立と治療法開発についての今後の課題」2018
- Author(s)
  武内俊樹
- Organizer
  日本人類遺伝学会第63回大会
- Invited
- 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
[Presentation] Identification of Two New Disease Entities Through the Undiagnosed Disease Program at Our Institution2017
- Author(s)
  武内俊樹
- Organizer
  The 3rd International Rare Diseases Research Consortium
- Place of Presentation
  パリ（フランス）
- Year and Date
  2017-02-08
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] Expanding A New Disease Entity Identified through UDP in Japan: Takenouchi-Kosaki Syndrome (OMIM #616737).2016
- Author(s)
  武内俊樹
- Organizer
  The 4th Undiagnosed Disease Network International
- Place of Presentation
  学士会館（東京都千代田区）
- Year and Date
  2016-11-16
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] CDC42 as a new human disease causative gene.2016
- Author(s)
  武内俊樹
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] Expanding Phenotypic Spectrum of Takenouchi-Kosaki syndrome.2016
- Author(s)
  武内俊樹
- Organizer
  American Society of Human Genetics 2016
- Place of Presentation
  バンクーバー（カナダ）
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] 血小板低下を伴う知的障害：武内-小崎症候群2016
- Author(s)
  武内俊樹
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学（東京都港区）
- Year and Date
  2016-12-09
- Invited
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] CDC42遺伝子変異は、巨大血小板性血小板減少症と精神運動発達遅滞を呈する新規症候群の原因となる2016
- Author(s)
  武内俊樹
- Organizer
  第119回日本小児科学会学術集会
- Place of Presentation
  ロイトン札幌（北海道札幌市）
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-16K09974
[Presentation] Hypothermic intervention causes reciprocal changes in acetylated metabolites in neonatal hypoxia-ischemia2015
- Author(s)
  Toshiki Takenouchi
- Organizer
  10th World Congress for Microcirculation
- Place of Presentation
  京都国際会館(京都府京都市)
- Year and Date
  2015-09-26
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26860854
[Presentation] Metabolic responses to mild hypothermia treatments after hypoxia-ischemia in newborn rats2013
- Author(s)
  武内俊樹
- Organizer
  第38回日本微小循環学会総会
- Place of Presentation
  東京慈恵会医科大学(東京都港区西新橋)
- Data Source
  KAKENHI-PROJECT-24791121
[Presentation] Metabolic responses to therapeutic hypothermia after hypoxia-ischemia in newborn rats2013
- Author(s)
  武内俊樹
- Organizer
  Society for Neuroscience 2013
- Place of Presentation
  アメリカ合衆国カリフォルニア州サンディエゴ市
- Year and Date
  2013-11-10
- Data Source
  KAKENHI-PROJECT-24791121
[Presentation] Metabolic responses to therapeutic hypothermia after hypoxia-ischemia in newborn rats
- Author(s)
  武内俊樹、中西豪、杉浦悠毅、長畑善子、杉岡忠男、久保亜希子、高橋孝雄、梶村眞弓、末松誠
- Organizer
  Society for Neuroscience 2013
- Place of Presentation
  San Diego, CA, USA
- Data Source
  KAKENHI-PROJECT-24791121

1. Takahashi Takao (80171495)

# of Collaborated Projects: 3 results

# of Collaborated Products: 1 results
2. SUEMATSU Makoto

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
3. KAJIMURA Mayumi

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
4. NAKANISHI Tsuyoshi

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
5. SUGIURA Yuki

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
6. NAGAHATA Yoshiko

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
7. SUGIOKA Tadao

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
8. MATSUURA Tomomi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
9. HISHIKI Takako

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
10. MORIKAWA Takayuki

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
11. KUBO Akiko

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
12. 上原朋子 (30767124)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
13. 三橋隆行 (80338110)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 芝田晋介 (70407089)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 奥野博庸 (70445310)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
16. SUZUKI Hidenori

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. MITANI Shohei

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. KOSAKI Kenjiro

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
19. OKAMOTO Nobuhiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
20. Kondoh Tatsuro

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. YOSHINA Sawako

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Takenouchi Toshiki 武内 俊樹

TAKENOUCHI Toshiki 武内 俊樹

Research Projects

Research Products

Co-Researchers

Metagenomic analysis of tissues and body fluids in neonatal hepatitis and encephalitisPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

PDGFRB異常による新規過成長症候群の病態解明と治療法開発Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Mechanisms underlying gliogenesis of astrocytes in premature brain

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathogenetics of Takenouchi-Kosaki syndromePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Comprehensive study of hypothermia in neonatal hypoxic-ischemic encephalopathyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Research on mechanism of neonatal hypoxic-ischemic encephalopathy using microscopic mass-spectroscopyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta2019

Author(s)

Journal Title

DOI

Data Source

[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)

Journal Title

DOI

Data Source

[Journal Article] Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia.2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia2015

Author(s)

Journal Title

DOI

Data Source

[Presentation] 遺伝性小児神経疾患の診断と治療：新規ヒト疾患の確立、迅速な遺伝子診断と治療可能疾患へのアプローチ2023

Author(s)

Organizer

Data Source

Takenouchi Toshiki 武内俊樹

TAKENOUCHI Toshiki 武内俊樹