Rchr
J-GLOBAL ID:201401091365558799   Update date: Jan. 30, 2024

Mitsuhashi Satomi

ミツハシ サトミ | Mitsuhashi Satomi
Affiliation and department:
Other affiliations (1):
  • St.Marianna University School of Medicine  Division of Neurology, Department of Internal Medicine 
Homepage URL  (1): http://kaken.nii.ac.jp/d/r/40466222.ja.html
Research field  (5): Neurology ,  Medical biochemistry ,  Molecular biology ,  Genomics ,  Fetal medicine/Pediatrics
Research keywords  (5): 遺伝学 ,  神経内科学 ,  リン脂質 ,  筋病学 ,  ミトコンドリア
Research theme for competitive and other funds  (7):
  • 2021 - 2024 DUX4による非コードDNAの転写活性化の病理的意義の研究
  • 2019 - 2022 Analysis of neurological genetic diseases using nanopore long read sequencer
  • 2018 - 2021 Search for endogenous retroviruses involved in FSHD
  • 2017 - 2020 Identification and function of endogenous retrovirus derived genes that mediate cell fusion
  • 2017 - 2019 Roles of MEGF10 in the pathomechanisms of myopathy
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Papers (165):
  • Sachiko Ohori, Akihiko Miyauchi, Hitoshi Osaka, Charles Marques Lourenco, Naohiro Arakaki, Toru Sengoku, Kazuhiro Ogata, Rachel Sayuri Honjo, Chong Ae Kim, Satomi Mitsuhashi, et al. Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy. Life Science Alliance. 2023. 6. 8. e202302025-e202302025
  • Shiena Watanabe, Ming Lei, Eiji Nakagawa, Eri Takeshita, Kei-Ichiro Inamori, Fumi Shishido, Masayuki Sasaki, Satomi Mitsuhashi, Naomichi Matsumoto, Yuiko Kimura, et al. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants. Brain & development. 2023. 45. 5. 270-277
  • Satomi Mitsuhashi, Martin C Frith. Analysis of Tandem Repeat Expansions Using Long DNA Reads. Methods in molecular biology (Clifton, N.J.). 2023. 2632. 147-159
  • Martin C Frith, Satomi Mitsuhashi. Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange. Methods in molecular biology (Clifton, N.J.). 2023. 2632. 161-175
  • Daiki Kato, Satomi Mitsuhashi, Fuyuki Miya, Shinji Saitoh, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Yuta Kochi. Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases. Journal of human genetics. 2022. 67. 12. 739-742
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MISC (52):
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Work history (12):
  • 2022/06 - 現在 Tokyo Medical and Dental University Medical Research Institute
  • 2022/06 - 現在 St.Marianna University School of Medicine Division of Neurology, Department of Internal Medicine
  • 2020/04 - 2022/05 Medical Research Institute, Tokyo Medical and Dental University Department of Genomic Function and Diversity
  • 2017/04 - 2020/03 横浜市立大学大学院医学研究科 助教
  • 2016 - 2017 東海大学医学部基礎医学系分子生命科学 特定研究員
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