Rchr
J-GLOBAL ID：201801003007830928
Update date: Nov. 06, 2024
Ishiura Hiroyuki
イシウラ ヒロユキ | Ishiura Hiroyuki
Affiliation and department：
Job title：
Professor
Research field (1)：
Neurology
Research keywords (3)：
Next-generation sequencer
, repeat expansion diseases
, Neurogenetics
Research theme for competitive and other funds (12)：
- 2023 - 2027 Research on neurodegenerative disorders
- 2022 - 2025 comprehensive search for expanded repeats in neurodegenerative diseaess
- 2020 - 2023 Revealing pathogenesis of noncoding repeat expansion diseases using long-read sequencing
- 2019 - 2022 Exploring rare variants associated with Alzheimer disease
- 2019 - 2022 Role of immune checkpoint molecules and macrophages in inflammatory myopathies
- 2018 - 2020 Toward pathogenesis of noncoding repeat expansion disease focusing on RNA toxicity
- 2017 - 2020 Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
- 2015 - 2019 Gene expression profiling of inflammatory myopathy in correlation with autoantibodies
- 2015 - 2017 Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
- 2014 - 2017 Expression profiling of inclusion body myositis by massive parallel sequencing
- 2012 - 2014 Identification of causative gene for autosomal recessive hereditary spastic paraplegia
- 2010 - 2011 遺伝性痙性対麻痺と紀伊筋萎縮性側索硬化症・パーキンソン認知症複合の遺伝子解析研究
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Papers (209)：
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Akihiko Mitsutake, Tatsuo Mano, Mizuho Kawai, Ryo Kurokawa, Hiroyuki Ishiura, Kaori Sakuishi, Harushi Mori, Tatsushi Toda. Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome: A Case Report. Internal medicine (Tokyo, Japan). 2024
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Akihiko Mitsutake, Takashi Matsukawa, Tatsuhiko Naito, Hiroyuki Ishiura, Jun Mitsui, Hiroaki Harada, Keishi Fujio, Jun Fujishiro, Harushi Mori, Shinichi Morishita, et al. A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy. Internal medicine (Tokyo, Japan). 2024
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Kenta Orimo, Jun Mitsui, Takashi Matsukawa, Masaki Tanaka, Junko Nomoto, Hiroyuki Ishiura, Yosuke Omae, Yosuke Kawai, Katsushi Tokunaga, Hatsue Ishibashi-Ueda, et al. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-. Journal of Human Genetics. 2024
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Hiroya Naruse, Chifumi Iseki, Jun Mitsui, Jun Miki, Hikaru Nagasawa, Katsuro Kurokawa, Ryota Kobayashi, Hiroyasu Sato, Jun Goto, Wataru Satake, et al. A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2024. 1-4
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Elisa Vegezzi, Hiroyuki Ishiura, D Cristopher Bragg, David Pellerin, Francesca Magrinelli, Riccardo Currò, Stefano Facchini, Arianna Tucci, John Hardy, Nutan Sharma, et al. Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis. The Lancet. Neurology. 2024. 23. 7. 725-739
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MISC (268)：
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卞宇てい, 福井裕介, 森原隆太, 石浦浩之, 山下徹. Mislocalized TAR DNA-binding protein-43 in mice stroke model. 日本脳血管・認知症学会総会プログラム・抄録集. 2024. 14th
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胡欣冉, 山下徹, 石浦浩之, 森原隆太, 福井裕介, 卞宇てい. Spearmint extract Neumentix promotes the phagocytosis of Aβ by microglia in APP23 mice. 日本脳血管・認知症学会総会プログラム・抄録集. 2024. 14th
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胡欣冉, 于海波, 山下徹, 森原隆太, 福井裕介, 石浦浩之. Exogenous amyloid-β oligomers exacerbate cognitive deficits and activated necroptosis in APP23 mice. 脳循環代謝(Web). 2023. 35. 1
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中野由美子, 佐々木諒, 中田有美, 松岡千加, 小坂田陽介, 田所功, 野村恵美, 柚木太淳, 武本麻美, 森原隆太, et al. エフガルチギモドへのスイッチを行った抗アセチルコリン受容体抗体・抗横紋筋抗体陽性の全身型重症筋無力症の一例. 臨床神経学(Web). 2023. 63. 9
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福井裕介, ZHAI Yun, FENG Tian, 森原隆太, 石浦浩之, 山下徹. 脳低灌流アルツハイマー病マウスにおけるホタテ由来プラズマローゲンの脳血管保護効果. 日本脳サプリメント学会(Web). 2023. 5th
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Education (2)：
- 2007 - 2011 The University of Tokyo Graduate School of Medicine
- 1996 - 2002 The University of Tokyo Faculty of Medicine
Professional career (2)：
- PhD (The University of Tokyo)
- MD (The University of Tokyo)
Work history (8)：
- 2022/11 - 現在 Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Professor
- 2020/04 - 2022/10 The University of Tokyo Department of Neurology Associate Professor/Senior Lecturer
- 2012/04 - 2020/03 The University of Tokyo Hospital Department of Neurology Assistant Professor
- 2010/04 - 2012/03 Japan Society for the Promotion of Science Research Fellowships for Young Scientists
- 2006/04 - 2007/03 International Medical Center of Japan Department of Neurology resident
- 2004/06 - 2006/03 The University of Tokyo Hospital Department of Neurology resident
- 2003/06 - 2004/05 Kanto Chuo Hospital Internal Medicine resident
- 2002/06 - 2003/05 The University of Tokyo Hospital Internal Medicine resident
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Committee career (10)：
- 2023/11 - 現在 Japanese Society of Neurological Therapeutics Councilor
- 2023/04 - 現在 The Japanese Society of Internal Medicine Councilor
- 2021/05 - 現在 日本神経学会 代議員
- 2019/11 - 現在 日本人類遺伝学会 評議員
- - 現在 日本人類遺伝学会 臨床遺伝専門医
- - 現在 日本神経学会 専門医、指導医
- - 現在 日本内科学会 総合内科専門医
- Human Genome Variation Associate Editor
- 日本人類遺伝学会 Editorial board of Journal of Human Genetics
- 日本神経学会 臨床神経学 編集委員・幹事
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Awards (4)：
- 2021/05 - 日本神経学会 日本神経学会賞 神経筋疾患における新規リピート伸長病の発見
- 2018/10 - The Japan Epilepsy Society English Presentation Award Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- 2018/10 - The Japan Society of Human Genetics Award Genetic study on neurological diseases
- 2011/10 - The Japan Society of Human Genetics Travel Award Massively parallel sequence analysis reveals the causative gene of posterior column ataxia with retinitis pigmentosa
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