Rchr
J-GLOBAL ID：201801014990028450   Update date: Oct. 28, 2024

Ozaki Kokoro

オザキ ココロ | Ozaki Kokoro
Affiliation and department：
National Center of Neurology and Psychiatry Department of Peripheral Nervous System Research, National Institute of Neuroscience

About National Center of Neurology and Psychiatry Department of Peripheral Nervous System Research, National Institute of Neuroscience


Job title： Staff Scientist
Other affiliations (3)：
  • Laboratory of Comprehensive Genomic Analysis, Institute of Medical Sciences  Laboratory of Comprehensive Genomic Analysis, Institute of Medical Sciences   Senior visiting researcher
  • Juntendo University  Diagnostics and therapeutics of intractable disorders, Intractable disease research center   part-time lecturer
  • Tokyo Medical and Dental University  Department of neurology and neurological science, Graduate school of medical and dental sciences   part-time lecturer
Research field  (3)： Molecular biology ,  Genomics ,  Neurology
Research keywords  (7)： Elucidation of molecular mechanisms underlying neurodegenerative disorders ,  genomics ,  molecular genetics of repeat sequences ,  molecular genetics ,  human genetics ,  neurology ,  neurogenetics
Research theme for competitive and other funds  (5)：
  • 2024 - 2027 シングルRNA-seqによるIgA腎症の扁桃における糖鎖異常産生の分子メカニズム
  • 2021 - 2026 疾患解明アプローチによる筋・骨組織の機能回復を目指した腱組織再生の分子基盤解析
  • 2022 - 2025 A multi-omics study on multiple system atrophy patients with family history
  • 2018 - 2022 Research on spinocerebellar ataxia caused by mutations in elongases
  • 2015 - 2017 Development of a novel method for analyzing repeat sequences
Papers (26)：
  • Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, et al. Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy. NPJ genomic medicine. 2024. 9. 1. 48-48
  • Kenya Sato, Hiroki Sasaguri, Wakako Kumita, Tetsushi Sakuma, Tomoe Morioka, Kenichi Nagata, Takashi Inoue, Yoko Kurotaki, Naomi Mihira, Michihira Tagami, et al. Production of a heterozygous exon skipping model of common marmosets using gene-editing technology. Lab animal. 2024. 53. 9. 244-251
  • Mamuti Rayle, Nozomu Sato, Kokoro Ozaki, Miwa Higashi, Michi Okita, Reiko Yajima, Akiko Amano, Hidehiro Mizusawa, Takanori Yokota, Kinya Ishikawa. Analysis of the polymorphic SCA37 locus in a cohort of 167 Japanese patients with degenerative ataxia. Journal of Medical and Dental Sciences. 2024. 71. 11-17
  • Ayaka Chikada, Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Hidehiro Mizusawa, Yuji Takahashi, Masahisa Katsuno, Kazuhiro Hara, et al. The Japan MSA registry: A multicenter cohort study of multiple system atrophy. Neurology and Clinical Neuroscience. 2024
  • Rina Tajima, Atsuko Okazaki, Tsuyoshi Sato, Kokoro Ozaki, Daisuke Motooka, Yasushi Okazaki, Tetsuya Yoda. Genetic Landscape of Masticatory Muscle Tendon-Aponeurosis Hyperplasia. Genes. 2023. 14. 9. 1718-1718
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MISC (69)：
  • 尾崎 心, 入岡 隆, 内原 俊記, 山田 茜, 中村 綾子, 延原 幸嗣, 馬嶋 貴正, 五十嵐 奨, 新宅 洋, 矢毛石 真由美, et al. SCA34の病理報告 オリゴデンドロサイト異常と空胞性白質変性、PSP様タウ病理. 臨床神経学. 2022. 62. Suppl. S208-S208
  • 杉浦歩, 木下善仁, 松橋徹郎, 志村優, 小貫孝則, 海老原知博, 新田和広, 岡崎敦子, 八塚由紀子, 市野紀子, et al. Comprehensive functional annotation for VUS of mitochondrial function-related genes. 日本分子生物学会年会プログラム・要旨集(Web). 2021. 44th
  • 西田 陽一郎, 尾崎 心, 横田 隆徳. 中脳水道狭窄を伴う水頭症2例における123I-FPCITSPECTの検討. 臨床神経学. 2020. 60. Suppl. S400-S400
  • 尾崎心, 木下善仁, 田上道平, 高橋知登世, 平田智子, 野間将平, 八塚由紀子, 岡崎敦子, 岡崎敦子, 新田和広, et al. 分子コーバーコード技術を用いた長鎖フラグメントの短鎖シーケンス法による構造多型検出の評価例. 日本人類遺伝学会大会プログラム・抄録集. 2020. 65th (CD-ROM)
  • 岡崎 康司, 木下 善仁, 杉浦 歩, 新田 和広, 尾崎 心, 大竹 明, 村山 圭. 「核とミトコンドリアのシナジー」から紐解く生老病死の生化学 日本人小児ミトコンドリア病の固有VUSに対する網羅的な機能的アノテーション. 日本生化学会大会プログラム・講演要旨集. 2020. 93rd. [2S10e-05]
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Professional career (4)：
  • PhD (Tokyo Medical and Dental Univ)
  • MD (Tokyo Medical and Dental University)
  • MSc (The University of Tokyo)
  • BSc (The University of Tokyo)
Work history (10)：
  • 2024/08 - 現在 Laboratory of Comprehensive Genomic Analysis, Institute of Medical Sciences Laboratory of Comprehensive Genomic Analysis, Institute of Medical Sciences Senior visiting researcher
  • 2024/08 - 現在 National Center of Neurology and Psychiatry Department of Peripheral Nervous System Research, National Institute of Neuroscience Staff Scientist
  • 2020/01 - 現在 Juntendo University Diagnostics and therapeutics of intractable diseases, Intractable disease research center part-time lecturer
  • 2019/04 - 現在 Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences Department of Neurology and Neurological Science Part-time lecturer
  • 2020/02 - 2024/07 RIKEN RIKEN Center for Integrative Medical Sciences, Laboratory for Comprehensive Genomic Analysis Senior Research Scientist / Deputy team leader
Show all
Committee career (1)：
  • 2019/05 - 現在 日本神経学会 代議員
Awards (4)：
  • 2022/02 - 第14回 CBIR/ONSA/大学院セミナー共催 若手インスパイアシンポジウム 優秀賞(教員部門) 脊髄小脳失調症34型の神経病理: 脂肪酸伸長酵素ELOVL4異常による神経グリア変性
  • 2017/08 - Tokyo Medical and Dental University TMDU President's Young Researchers Award A molecular genetic study of spinocerebellar ataxias and multiple system atrophy
  • 2017/03 - Ochanomizu Medical Alumni Research Award A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34
  • 2015/02 - Tokyo Medical and Dental University, Center for Brain Integration Research, CBIR Poster award Identification of a novel ELOVL4 mutation in two SCA families: Expanding clinical spectrum of SCA34
Association Membership(s) (3)：
THE JAPANESE SOCIETY OF INTERNAL MEDICINE ,  THE JAPAN SOCIETY OF HUMAN GENETICS ,  JAPANESE SOCIETY OF NEUROLOGY
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