Rchr
J-GLOBAL ID：201201000950404900
Update date: Oct. 25, 2024
Mitsuko Nakashima
ナカシマ ミツコ | Mitsuko Nakashima
Affiliation and department：
Homepage URL (2)：
https://www.hama-med.ac.jp/education/fac-med/dept/biochemistry/
,
http://www-user.yokohama-cu.ac.jp/~hygiene/
Research field (2)：
Genetics
, Medical biochemistry
Research keywords (4)：
Next generation sequence
, Genomewide association study
, Linkage analysis
, Whole Exome sequencing
Research theme for competitive and other funds (5)：
- 2023 - 2027 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
- 2021 - 2024 ASTN1遺伝子変異に起因する脳形成障害の疾患病態解明
- 2015 - 2018 The screening of somatic mutations using whole exome sequencing in brain malformations
- 2013 - 2015 Identification of the candidate gene for PFAPA syndrome
- 2011 - 2012 A genome-wide association study for keloid disease and functional analysis of keloid candidate genes
Papers (247)：
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Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, et al. Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. Scientific reports. 2024. 14. 1. 24746-24746
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Kazuo Kubota, Takuya Hiraide, Mina Nakama, Miho Adachi, Mitsuko Nakashima, Hirotomo Saitsu, Hidenori Ohnishi. GRIN2A-related disorder causes profound developmental delay and a disorder affecting movement. Brain and Development Case Reports. 2024. 2. 3. 100034-100034
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Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, et al. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. Journal of human genetics. 2024
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Mai Samejima, Mitsuko Nakashima, Jun Shibasaki, Hirotomo Saitsu, Mitsuhiro Kato. Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome. Brain & development. 2024. 46. 3. 154-159
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Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu. A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. Human genome variation. 2023. 10. 1. 30-30
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MISC (67)：
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江間 達哉, 清水 健司, 田中 智大, 村上 智美, 奥村 良法, 松林 朋子, 中島 光子, 才津 浩智. 広範な脳軟膜血管腫と大血管奇形を認め急速な退行を来したGNAQ遺伝子変異の1例. 脳と発達. 2023. 55. 3. 227-227
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河内 優人, 山下 美保, 池谷 章, 柿沢 圭亮, 佐藤 亮, 中島 光子, 佐々木 茂和. MAX遺伝子変異陽性褐色細胞腫(PCC)の一家系. 日本内分泌学会雑誌. 2023. 99. 1. 400-400
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池原 甫, 吉井 祥子, 小竹 悠子, 内田 智子, 塩浜 直, 青木 伸太郎, 中島 光子, 才津 浩智, 加藤 光広, 藤井 克則, et al. DARS2遺伝子変異により,出生時から急速進行性の脳萎縮を示した女児. 脳と発達. 2023. 55. Suppl. S348-S348
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出納 達也, 小林 梢, 平出 拓也, 日隈 のどか, 中島 光子, 才津 浩智, 加藤 光弘. 脳梁低形成・脳室拡大を伴うPDHC欠損症の女児例. 脳と発達. 2023. 55. Suppl. S384-S384
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山本 崇裕, 久保田 一生, 足立 美穂, 渡邊 一樹, 中島 光子, 才津 浩智, 大西 秀典. キアリ奇形I型を合併したHouge型X連鎖知的発達障害症候群の1例. 脳と発達. 2023. 55. Suppl. S407-S407
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Lectures and oral presentations (16)：
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De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
(68th Annual Meeting of the Japan Society of Human Genetics 2023)
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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
(日本人類遺伝学会第62回大会 2017)
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WDR45 mutations in three male patients with West syndrome
(66th Annual Meeting of The American Society of Human Genetics 2016)
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De novo DNM1 mutations in two cases of epileptic encephalopathy
(13th International Congress of Human Genetics 2016)
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Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb
(65th Annual Meeting of The American Society of Human Genetics 2015)
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Education (2)：
- 2004 - 2008 Nagasaki University Graduate School of Biomedical Sciences Medical and dental sciences
- 1995 - 2001 Nagasaki University School of Medicine
Professional career (1)：
Work history (3)：
- 2017/04 - 現在 Hamamatsu University School of Medicine Department of Biochemistry Associate professor
- 2012/04 - 2017/03 Yokohama City University School of Medicine Medical Course Human Genetics
- 2008/09 - 2012/03 Institute of Medical Science, the University of Tokyo Human Genome Center
Awards (1)：
Association Membership(s) (2)：
The Japanese Teratology Society
, THE JAPAN SOCIETY OF HUMAN GENETICS
