Nakashima Mitsuko 中島光子

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NAKASHIMA Mitsuko 中島光子

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Researcher Number	20541965
Other IDs
Affiliation (Current)	2025: 佐賀大学, 医学部附属病院, 医員
Affiliation (based on the past Project Information) *help	2025: 佐賀大学, 医学部附属病院, 医員 2021 – 2024: 浜松医科大学, 医学部, 准教授 2017: 浜松医科大学, 医学部, 准教授 2012 – 2016: 横浜市立大学, 医学部, 助教 2011: 東京大学, 医科学研究所, 特任研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 48040:Medical biochemistry-related / Neurosurgery / Pediatrics / Plastic surgery Except Principal Investigator Basic Section 52010:General internal medicine-related
Keywords	Principal Investigator 全エクソーム解析 / 遺伝子改変ショウジョウバエ / タンパク質構造予測 / RNA翻訳機構 / 小児神経発達症 / AAVベクター / iPS細胞 / Astn1ノックインマウス / ゲノムシークエンシング / 脳形成障害 … More / ASTN1 / TAS解析 / ラパマイシン / MTOR / GNAQ / droplet digital PCR / TAS変異 / 体細胞変異 / バイオインフォマティクス / 小児周期発熱 / コラーゲン / FOXL2 / ケロイド / Wnt signaling / マイクロアレイ / non-coding RNA / GWAS … More Except Principal Investigator 外部精度評価 / リキッドバイオプシー / プロセス管理 / ゲノム医療 / 技能試験 / 質保証 / 血中遊離核酸検査 Less

RNA翻訳機構障害に起因する神経発達障害の疾患病態の解明Principal Investigator
- Principal Investigator
  
  中島光子
- 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
  Saga University
血中遊離核酸検査の質保証と技能試験の開発；精確な結果に基づくゲノム医療をめざして
- Principal Investigator
  
  前川真人
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52010:General internal medicine-related
- Research Institution
  Hamamatsu University School of Medicine
ASTN1遺伝子変異に起因する脳形成障害の疾患病態解明Principal Investigator
- Principal Investigator
  
  中島光子
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  Hamamatsu University School of Medicine
The screening of somatic mutations using whole exome sequencing in brain malformationsPrincipal Investigator
- Principal Investigator
  
  Nakashima Mitsuko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurosurgery
- Research Institution
  Hamamatsu University School of Medicine
  Yokohama City University
Identification of the candidate gene for PFAPA syndromePrincipal Investigator
- Principal Investigator
  
  NAKASHIMA Mitsuko
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University
A genome-wide association study for keloid disease and functional analysis of keloid candidate genesPrincipal Investigator
- Principal Investigator
  
  NAKASHIMA Mitsuko
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Plastic surgery
- Research Institution
  Yokohama City University
  The University of Tokyo

All 2022 2017 2016 2015 2014 2013 2012 2011 Other

All Journal Article Presentation

[Journal Article] De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities2022
- Author(s)
  Nakashima Mitsuko、Argilli Emanuela、Nakano Sayaka、Sherr Elliott H.、Kato Mitsuhiro、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 4 Pages: 291-298
- DOI
  10.1038/s10038-022-01106-0
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06819, KAKENHI-PROJECT-20H03641
[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016
- Author(s)
  Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 7 Pages: 285-92
- DOI
  10.1038/jhg.2016.27
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K10367
[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
- Author(s)
  Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
- Journal Title
  
  Ann. Neurol.
  
  Volume: 78 Issue: 3 Pages: 375-386
- DOI
  10.1002/ana.24444
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06736, KAKENHI-PROJECT-15K06751, KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25250008, KAKENHI-PROJECT-25430064, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2015
- Author(s)
  Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
- Journal Title
  
  Epilepsia
  
  Volume: Epub 2015 Nov 27. Issue: 1
- DOI
  10.1111/epi.13257
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367, KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235
[Journal Article] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.2014
- Author(s)
  Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitus H, Arai H, Matsumoto N.
- Journal Title
  
  J Hum Genet.
  
  Volume: 59 Issue: 12 Pages: 691-3
- DOI
  10.1038/jhg.2014.95
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24592173, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26462217
[Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014
- Author(s)
  Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
- Journal Title
  
  J Hum Genet
  
  Volume: 59（8） Issue: 8 Pages: 471-474
- DOI
  10.1038/jhg.2014.51
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014
- Author(s)
  Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
- Journal Title
  
  Neurogenet
  
  Volume: 15（3） Issue: 3 Pages: 193-200
- DOI
  10.1007/s10048-014-0408-y
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
[Journal Article] ケロイド2013
- Author(s)
  中島　光子
- Journal Title
  
  Surgery Frontier
  
  Volume: 20-2
- Data Source
  KAKENHI-PROJECT-23792040
[Journal Article] ケロイド2013
- Author(s)
  中島光子、前佛均
- Journal Title
  
  Surgery Frontier
  
  Volume: Vol20、No.2(印刷中)
- Data Source
  KAKENHI-PROJECT-23792040
[Journal Article] ゲノム多様性と希少疾患2013
- Author(s)
  中島光子、松本直通
- Journal Title
  
  細胞
  
  Volume: vol45、No.3 Pages: 24-27
- Data Source
  KAKENHI-PROJECT-23792040
[Journal Article] ゲノムワイド関連解析を用いた日本人ケロイド疾患感受性領域の同定2012
- Author(s)
  中島光子、前佛均
- Journal Title
  
  Aesthetic Dermartology
  
  Volume: Vol.22、No.2 Pages: 79-89
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23792040
[Journal Article] ゲノムワイド関連解析を用いた日本人ケロイド疾患感受性領域の同定2012
- Author(s)
  中島　光子
- Journal Title
  
  Aethetic Dermatology
  
  Volume: 22 Pages: 79-89
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23792040
[Presentation] 全エクソーム解析を用いた希少難治性てんかん1230例の包括的遺伝子解析2017
- Author(s)
  中島光子
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15K10367
[Presentation] De novo DNM1 mutations in two cases of epileptic encephalopathy.2016
- Author(s)
  Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367
[Presentation] WDR45 mutations in three male patients with West syndrome.2016
- Author(s)
  Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto
- Organizer
  American Society of Human Genetics Annual Meeting 2016
- Place of Presentation
  Vancouver, Canada
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367
[Presentation] 限局性皮質異形成(FCD)IIb型におけるMTOR体細胞変異の同定．2015
- Author(s)
  中島光子
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル、新宿、東京
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K10367
[Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia Type IIb2015
- Author(s)
  Mitsuko Nakashima
- Organizer
  merican Society of Human Genetics Annual Meeting 2015
- Place of Presentation
  Baltimore, MD, USA
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10367
[Presentation] Sturge-Weber syndromeにおけるGNAQ体細胞変異の同定2014
- Author(s)
  中島　光子,宮嶋　雅一、新井　一、加藤　光広、松本　直通
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  タワーホール船堀(東京都江戸川区)
- Year and Date
  2014-11-22
- Data Source
  KAKENHI-PROJECT-25860874
[Presentation] 遺伝的多型に基づくケロイド新規疾患感受性遺伝子の同定および機能解析2012
- Author(s)
  中島光子
- Organizer
  日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-23792040
[Presentation] 遺伝的多型に基づくケロイド新規疾患感受性遺伝子の同定および機能解析2012
- Author(s)
  中島　光子
- Organizer
  日本人類遺伝学会
- Place of Presentation
  京王プラザホテル　(東京都)
- Data Source
  KAKENHI-PROJECT-23792040
[Presentation] A genome-wide association study for keloid disease and involvement of FOXL2 in keloid formation.2011
- Author(s)
  中島　光子
- Organizer
  日本人類遺伝学会
- Place of Presentation
  千葉県
- Data Source
  KAKENHI-PROJECT-23792040
[Presentation] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
- Author(s)
  Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Masaya Kubota, Taroh Kinoshita, Hirotomo Saitsu, Naomichi Matsumoto
- Organizer
  The American Society of Human Genetics, 2014 meeting
- Place of Presentation
  San Diego (CA, USA)
- Year and Date
  2014-10-19 – 2014-10-21
- Data Source
  KAKENHI-PROJECT-25860874

1. 前川真人 (20190291)

# of Collaborated Projects: 1 results

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2. 西尾和人 (10208134)

# of Collaborated Projects: 1 results

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3. 坂井和子 (20580559)

# of Collaborated Projects: 1 results

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4. 才津浩智 (40402838)

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5. 山下計太 (40868543)

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6. 岩泉守哉 (60444361)

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7. 松下一之 (90344994)

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8. 杉江淳 (50777000)

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9. WATANABE Keisuke

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10. 菅野秀宣

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11. 新井一

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12. 松本直通

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# of Collaborated Products: 2 results

Nakashima Mitsuko 中島 光子

NAKASHIMA Mitsuko 中島 光子

Research Projects

Research Products

Co-Researchers

RNA翻訳機構障害に起因する神経発達障害の疾患病態の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

血中遊離核酸検査の質保証と技能試験の開発；精確な結果に基づくゲノム医療をめざして

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

ASTN1遺伝子変異に起因する脳形成障害の疾患病態解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

The screening of somatic mutations using whole exome sequencing in brain malformationsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Identification of the candidate gene for PFAPA syndromePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

A genome-wide association study for keloid disease and functional analysis of keloid candidate genesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] ケロイド2013

Author(s)

Journal Title

Data Source

Nakashima Mitsuko 中島光子

NAKASHIMA Mitsuko 中島光子