Kojima Karin 小島華林

… Alternative Names

小島華林コジマカリン

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Researcher Number	00468331
Other IDs
Affiliation (Current)	2025: 自治医科大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2022 – 2023: 自治医科大学, 医学部, 准教授 2016 – 2021: 自治医科大学, 医学部, 講師 2015: 自治医科大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords	Principal Investigator 遺伝子治療 / MECP2 / AAV / Rett症候群 / 大脳皮質オルガノイド / AAVベクター / 小児神経 / CRSPR-dCas / Gaucher病 / iPS … More / スクリーニング / AADC欠損症 / micro RNA / 発現調整 / microRNA / small RNA / miRNA / シナプス機能 / SCTR / 自閉性障害 / シナプスバランス / ノックインマウス / CADM1 / ER stress / 小胞体ストレス / 自閉症スペクトラム障害 Less

Rett症候群・MECP2重複症候群に対する発現量調整可能なAAV遺伝子治療開発Principal Investigator
- Principal Investigator
  
  小島華林
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Jichi Medical University
Research on the Development of Gene Therapy for Neurological Diseases Using AAV Vectors and Small RNAsPrincipal Investigator
- Principal Investigator
  
  Kojima Karin
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research (A))
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Jichi Medical University
Development of Gene Therapy for Pediatric Neurological Diseases Using Adeno-Associated Virus VectorsPrincipal Investigator
- Principal Investigator
  
  Kojima Karin
- Project Period (FY)
  2018 – 2023
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Jichi Medical University
Analysis of the influence of autism spectrum disorder related gene mutations on synaptic function and endoplasmic reticulum stressPrincipal Investigator
- Principal Investigator
  
  Kojima Karin
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Jichi Medical University

All 2022 2021 2020 2019 2018 2017 2015

All Journal Article Presentation

[Journal Article] The ATRX splicing variant c.21-1G>A is asymptomatic2022
- Author(s)
  Kojima Karin、Wada Takahito、Shimbo Hiroko、Ikeda Takahiro、Jimbo Eriko F.、Saitsu Hirotomo、Matsumoto Naomichi、Yamagata Takanori
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 33-33
- DOI
  10.1038/s41439-022-00212-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-18KK0465
[Journal Article] 芳香族Lアミノ酸脱炭酸酵素(AADC)欠損症診断のための乾燥血液濾紙によるスクリーニング検査法と血漿 AADC酵素活性測定系の開発.2021
- Author(s)
  渡邉知佳, 小島華林, 黒川愛恵・他
- Journal Title
  
  日本マススクリーニング学会誌
  
  Volume: 31 Pages: 27-35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K15685
[Journal Article] 【小児遺伝子疾患事典】代謝疾患　DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021
- Author(s)
  小島華林
- Journal Title
  
  小児科診療
  
  Volume: 84 Pages: 1520-1523
- Data Source
  KAKENHI-PROJECT-18K15685
[Journal Article] 芳香族Lアミノ酸脱炭酸酵素(AADC)欠損症診断のための乾燥血液濾紙によるスクリーニング検査法と血漿AADC酵素活性測定系の開発.2021
- Author(s)
  渡邉知佳, 小島華林, 黒川愛恵・他
- Journal Title
  
  日本マススクリーニング学会誌
  
  Volume: 31 Pages: 27-35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18KK0465
[Journal Article] 【小児遺伝子疾患事典】代謝疾患　DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021
- Author(s)
  小島華林
- Journal Title
  
  小児科診療
  
  Volume: 84 Pages: 1520-1523
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0465
[Journal Article] MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure2020
- Author(s)
  Keuls Rachel A.、Kojima Karin、Lozzi Brittney、Steele John W.、Chen Qiuying、Gross Steven S.、 Finnell Richard H.、Parchem Ronald J.
- Journal Title
  
  International Journal of Molecular Sciences
  
  Volume: 21 Issue: 20 Pages: 7534-7534
- DOI
  10.3390/ijms21207534
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15685, KAKENHI-PROJECT-18KK0465
[Journal Article] Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency2019
- Author(s)
  Karin Kojima Takeshi Nakajima Naoyuki Taga Akihiko Miyauchi Mitsuhiro Kato Ayumi Matsumoto Takahiro Ikeda Kazuyuki Nakamura Tetsuo Kubota Hiroaki Mizukami Sayaka Ono Yoshiyuki Onuki Toshihiko Sato Hitoshi Osaka Shin-ichi Muramatsu Takanori Yamagata
- Journal Title
  
  Brain
  
  Volume: 142 Issue: 2 Pages: 322-333
- DOI
  10.1093/brain/awy331
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] Gene therapy for aromatic L-amino acid decarboxylase deficiency in Japan improved the motor and mental function of patients with various phenotypes.2022
- Author(s)
  Karin Kojima
- Organizer
  12th International Collaborative Forum of Human Gene Therapy for Genetic Diseases
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0465
[Presentation] Gene therapy for aromatic L-amino acid decarboxylase deficiency in Japan improved the motor and mental function of patients with various phenotypes.2022
- Author(s)
  Karin Kojima
- Organizer
  12th International Collaborative Forum of Human Gene Therapy for Genetic Diseases
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] AADC欠損症遺伝子治療の長期効果2022
- Author(s)
  小島　華林、宮内　彰彦、池田　尚広、黒川　愛恵、大貫　良幸、中嶋　剛、平井　真洋、村松　一洋、小坂　仁、村松　慎一、山形　崇倫
- Organizer
  第64回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18KK0465
[Presentation] AADC欠損症に対する遺伝子治療の効果: 運動・認知機能の改善.2018
- Author(s)
  小島華林、平井真洋、中嶋剛、多賀直行、宮内彰彦、小坂仁、村松慎一、山形崇倫
- Organizer
  第33回日本大脳基底核研究会:シンポジウム.
- Invited
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] Gene therapy for AADC deficiency, AADC 欠損症に対する遺伝子治療臨床研究の成果と他疾患への応用.2018
- Author(s)
  小島　華林、山形　崇倫.
- Organizer
  第60回日本小児神経学会学術集会:シンポジウム.
- Invited
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] Gene therapy for child neurological diseases: Effective for AADC deficiency, new challenges for Glut1-deficiency syndrome and potential for other diseases.2018
- Author(s)
  Karin Kojima, Takanori Yamagata.
- Organizer
  The 24th Annual Meeting of the American Society of gene and cell therapy (JSGCT2018): Symposium.
- Invited
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] Improvement of Motor and Cognitive Function by Gene Therapy for Patients with AADC Deficiency2018
- Author(s)
  Karin Kojima, Takeshi Nakajima, Naoyuki Taga, Hitoshi Osaka, Shin-ichi Muramatsu, Takanori Yamagata
- Organizer
  American society of gene and cell therapy the 21st annual meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15685
[Presentation] CADM1 mutation knock-in mice as mice model of ASD showing abnormal excitatory-inhibitory synaptic balance.2017
- Author(s)
  Karin Kojima, Eriko F. Jimbo, Takanori Yamagata, Takashi Momoi, Mariko Y. Momoi
- Organizer
  International Society for Autism Research 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19628
[Presentation] Relationship Between ASD Candidate Gene Mutations And Endoplasmic Reticulum Stress2015
- Author(s)
  Karin Kojima, Eriko F. Jimbo, Takanori Yamagata
- Organizer
  13th Asian and Oceania Congress of Child Neurology 2015 (AOCCN 2015)
- Place of Presentation
  Taipei International Convention Center
- Year and Date
  2015-05-14
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19628

1. 山形崇倫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Kojima Karin 小島 華林

小島 華林 コジマ カリン

Research Projects

Research Products

Co-Researchers

Rett症候群・MECP2重複症候群に対する発現量調整可能なAAV遺伝子治療開発Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Research on the Development of Gene Therapy for Neurological Diseases Using AAV Vectors and Small RNAsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Development of Gene Therapy for Pediatric Neurological Diseases Using Adeno-Associated Virus VectorsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Analysis of the influence of autism spectrum disorder related gene mutations on synaptic function and endoplasmic reticulum stressPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] The ATRX splicing variant c.21-1G&gt;A is asymptomatic2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 芳香族Lアミノ酸脱炭酸酵素(AADC)欠損症診断のための乾燥血液濾紙によるスクリーニング検査法と血漿 AADC酵素活性測定系の開発.2021

Author(s)

Journal Title

Data Source

[Journal Article] 【小児遺伝子疾患事典】代謝疾患 DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021

Author(s)

Journal Title

Data Source

[Journal Article] 芳香族Lアミノ酸脱炭酸酵素(AADC)欠損症診断のための乾燥血液濾紙によるスクリーニング検査法と血漿AADC酵素活性測定系の開発.2021

Author(s)

Journal Title

Data Source

[Journal Article] 【小児遺伝子疾患事典】代謝疾患 DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021

Author(s)

Journal Title

Data Source

[Journal Article] MiR-302 Regulates Glycolysis to Control Cell-Cycle during Neural Tube Closure2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency2019

Author(s)

Journal Title

DOI

Data Source

[Presentation] Gene therapy for aromatic L-amino acid decarboxylase deficiency in Japan improved the motor and mental function of patients with various phenotypes.2022

Author(s)

Organizer

Data Source

[Presentation] Gene therapy for aromatic L-amino acid decarboxylase deficiency in Japan improved the motor and mental function of patients with various phenotypes.2022

Author(s)

Organizer

Data Source

[Presentation] AADC欠損症遺伝子治療の長期効果2022

Author(s)

Organizer

Data Source

[Presentation] AADC欠損症に対する遺伝子治療の効果: 運動・認知機能の改善.2018

Author(s)

Organizer

Data Source

[Presentation] Gene therapy for AADC deficiency, AADC 欠損症に対する遺伝子治療臨床研究の成果と他疾患への応用.2018

Author(s)

Organizer

Data Source

Kojima Karin 小島華林

小島華林コジマカリン

[Journal Article] The ATRX splicing variant c.21-1G>A is asymptomatic2022

[Journal Article] 【小児遺伝子疾患事典】代謝疾患　DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021

[Journal Article] 【小児遺伝子疾患事典】代謝疾患　DDC(関連疾患:芳香族L-アミノ酸脱炭酸酵素<AADC>欠損症).2021