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J-GLOBAL ID：201201083348463140   Update date: Apr. 08, 2025

Mishima Hiroyuki

ミシマ ヒロユキ | Mishima Hiroyuki
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Affiliation and department：
Nagasaki University Department of Human Genetics, Genomic Function Analysis Unit, Atomic Bomb Disease Institute

About Nagasaki University Department of Human Genetics, Genomic Function Analysis Unit, Atomic Bomb Disease Institute


Job title： Assistant Professor
Homepage URL  (1)： https://github.com/misshie
Research field  (5)： Biological, health, and medical informatics ,  Medical biochemistry ,  Surgical dentistry ,  Obstetrics and gynecology ,  Fetal medicine/Pediatrics
Research keywords  (11)： intractable diseases ,  rare diseases ,  Next Generation Sequencer ,  Next Generation Sequencing ,  Orofacial Clefts ,  Ruby ,  Oral Surgery ,  Bioinformatics ,  Human Genetics ,  Gynecologic Oncology ,  Human Papilloma Viruses
Research theme for competitive and other funds  (16)：
  • 2024 - 2027 Implementing Pangenome-Based Whole Genome Analysis of Structural Variations for Rare Diseases
  • 2024 - 2026 Implementation of a Remote Training Evaluation Environment for Motor Functions in Individuals with Congenital Disabilities
  • 2021 - 2024 Implementation of 3-D Facial Image-based Diagnosis Assistance of Ultrarare Congenital Malformation Syndromes
  • 2019 - 2023 革新的な新規リキッドバイオプシー法を用いた新しい乳癌の診断・治療法の探索
  • 2021 - 2022 Development of Systems of Vocal and Physical Remote Training and AI-based Evaluation for People with Congenital Anomalies
Show all
Papers (82)：
  • Ryohei Aoki, Kyo Kobayashi, Shiori Yokoyama, Chia-An Cheng, Hiroyuki Mishima, Tatsuro Kondoh, Tomoko Komatsu, Masaichi Chang-Il Lee. Direct evaluation of salivary antioxidant properties in patients with down syndrome for assessment to periodontal disease and premature aging. Free radical biology & medicine. 2025. 229. 514-519
  • Yuji Kobayashi, Koji Ando, Yoshitaka Imaizumi, Hikaru Sakamoto, Hideaki Kitanosono, Masataka Taguchi, Hiroyuki Mishima, Akira Kinoshita, Shara Bekytbek, Maki Baba, et al. RUNX1 expression is regulated by a super-enhancer and is a therapeutic target in adult T-cell leukemia/lymphoma. Leukemia & lymphoma. 2024. 1-13
  • Masaki Ibe, Shinobu Tamura, Hideki Kosako, Yusuke Yamashita, Masamichi Ishii, Masaoh Tanaka, Hiroyuki Mishima, Akira Kinoshita, Sadahiro Iwabuchi, Shuhei Morita, et al. Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report. Molecular genetics and metabolism reports. 2024. 40. 101107-101107
  • Mio Matsumoto, Momoko Oyake, Tomoyo Itonaga, Miwako Maeda, Soichi Suenobu, Daichi Sato, Yoji Sasahara, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Kenji Ihara. Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood. European Journal of Medical Genetics. 2024. 69. 104939-104939
  • Chisei Satoh, Koh-Ichiro Yoshiura, Hiroyuki Mishima, Haruo Yoshida, Haruo Takahashi, Yoshihiko Kumai. Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis. BMC medical genomics. 2023. 16. 1. 288-288
ｍore...
MISC (33)：
  • 三嶋 博之. 顔貌解析による遺伝性希少疾患診断支援. メディカル・サイエンス・ダイジェスト. 2024. 50. 11. 624-625
  • Hiroyuki Mishima. Genome analysis for intractable diseases and rare diseases (feature article: Genomic medicine research enables by the complete sequence of the human genome). The CELL. 2024. 56. 6. 423-426
  • Hiroyuki Mishima. Genome medicine and bioinformatics for intractable diseases and rare diseases. JSBi Bioinformatics Review. 2023. 4. 1. 26-34
  • 三嶋博之. AIによる先天異常症候群の診断支援 (特集・小児外科を取り巻く最新テクノロジー). 小児外科. 2022. 54. 10. 1018-1021
  • 光武 範吏, 鈴木 啓司, 河村 香寿美, 三嶋 博之, 吉浦 孝一郎. 放射線照射によるHPRT変異クローンのロングリード解析(Long-read sequencing analysis of radiation-induced HPRT-mutated cell clones). 日本放射線影響学会大会講演要旨集. 2022. 65回. 25-25
ｍore...
Books (10)：
  • ヤポネシアの現代人ゲノム (ヤポネシア人の起源と成立)
    朝倉書店 2025 ISBN:4254177917
  • がんゲノムペディア〜77のキーワードで理解するゲノム医療とゲノム研究
    羊土社 2024 ISBN:4758121303
  • 実験医学増刊・バイオDBとウェブツール ラボで使える最新70選
    2022 ISBN:9784758104067
  • 日本人の疾患と健康のためのバイオバンクとデータベース活用法
    羊土社 2021 ISBN:9784758103947
  • 実験医学別冊:バリアントデータ検索&活用 変異・多型情報を使いこなす達人レシピ
    羊土社 2020 ISBN:9784758122450
ｍore...
Lectures and oral presentations  (94)：
  • パタカラプラス:ダウン症候群を持つ方々のためのトレーニングと自動評価環境
    (第78回日本体力医学会大会 2024)
  • (9) E6領域のアミノ酸配列に基づいた新たなHPVリスク分類法
    (第8回 放射線災害・医科学研究拠点カンファランス 2024)
  • 「パタカラプラス」の自動評価
    (第36回日本ダウン症療育研究会 2024)
  • (OS-06-4) IInvestigating batch effects in whole genome sequencing: A study of paired samples from two sequencing projects
    (Human Genetics Asia 2023 2023)
  • (O-15) T2T完全長ヒト参照ゲノムを用いた全ゲノムシークエンシングのためのアノテーションワークフローの開発
    (第30回日本遺伝子診療学会大会・第8回クリニカルバイオバンク学会シンポジウム合同学術集会 2023)
ｍore...
Works (1)：
  • Ruby UCSC API
    Hiroyuki Mishima 2011 - 現在
Education (2)：
  • 1997 - 2001 Hokkaido University Graduate School of Dental Medicine
  • 1991 - 1997 Hokkaido University School of Dentistry
Professional career (1)：
  • Ph.D. in Dental Medicine (Hokkadio University Graduate School of Dental Medicine)
Work history (7)：
  • 2023/04 - 現在 Nagasaki University Department of Human Genetics, Genomic Function Analysis Unit, tomic Bomb Diswase Institute Assistant Professor
  • 2021/11 - 2023/04 Nagasaki University Assistant Professor
  • 2012/06 - 現在 Nagasaki University Graduate School of Biomedical Sciences Assistanst Professor
  • 2008/03 - 2012/05 Nagasaki University Graduate School of Biomedical Sciences Research Fellow
  • 2003/05 - 2008/02 University of Iowa College of Dentistry Postdoctoral Research Fellow
Show all
Committee career (1)：
  • 2023/12 - 現在 The Japan Society of Human Genetics board member
Association Membership(s) (9)：
Japanese Society for Bioinformatics ,  The Japanese Society for Gene Diagnosis and Therapy ,  Japanese Association for Medical Artificial Intelligence ,  The Japan Society of Pediatric Genetics ,  The Japan Society of Human Genetics ,  American Socienty of Human Genetics ,  The Molecular Biology Sciety of Japan ,  Japanese Cleft Palate Association ,  Japanese Society of Oral and Maxillofacial Surgeons
※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

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