Rchr
J-GLOBAL ID：201201000950404900
Update date: Apr. 13, 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 (240)：
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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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Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu. Two novel cases of biallelic SMPD4 variants with brain structural abnormalities. Neurogenetics. 2023
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Shogo Furukawa, Mitsuhiro Kato, Toshihiro Nomura, Noriko Sumitomo, Shota Yoneno, Mitsuko Nakashima, Hirotomo Saitsu. Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence. American journal of medical genetics. Part A. 2023
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金子 雅直, 中島 光子, 杉浦 喜一, 石田 夏樹, 田村 智, 谷 伸也, 山出 美穂子, 濱屋 寧, 大澤 恵, 立田 協太, et al. 大腸髄様癌はMLH1欠損かつBRAFV600E変異陽性の特徴を有する. 日本消化器病学会雑誌. 2023. 120. 臨増大会. A801-A801
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MISC (66)：
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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
