ゲノム健康医療学分野

58  件  
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  1. Morioka S, Nakanishi H, Yamamoto T, Hasegawa J, Tokuda E, Hikita T, Sakihara T, Kugii Y, Oneyama C, Yamazaki M, Suzuki A, Sasaki J, Sasaki T: A mass spectrometric method for in-depth profiling of phosphoinositide regioisomers and their disease-associated regulation. Nature communications. 2022.01; 13 (1): 83. ( PubMed , DOI )

  1. Sakihara T, Takiguchi N, Uzawa H, Serizawa R, Kobayashi T: Erylysin A inhibits cytokinesis in Escherichia coli by binding with cardiolipin. Journal of biochemistry. 2021.10; 170 (3): 369-377. ( PubMed , DOI )

  2. Sakihara Tomoko, Takiguchi Naoko, Uzawa Hikari, Serizawa Rika, Kobayashi Tetsuyuki: Erylysin A inhibits cytokinesis in Escherichia coli by binding with cardiolipin(和訳中) The Journal of Biochemistry. 2021.09; 170 (3): 369-377. ( 医中誌 )

  1. Ishikawa K, Nagai Y: Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31). Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2019.11; ( PubMed , DOI )

  2. Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F: Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiology of disease. 2019.06; 130 104516. ( PubMed , DOI )

  3. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S: Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American journal of human genetics. 2019.05; 104 (5): 925-935. ( PubMed , DOI )

  4. Ozaki K, Ansai A, Nobuhara K, Araki T, Kubodera T, Ishii T, Higashi M, Sato N, Soga K, Mizusawa H, Ishikawa K, Yokota T: Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort. Parkinsonism & related disorders. 2019.05; 65 238-242. ( PubMed , DOI )

  5. Furukawa F, Ishikawa K, Yokota T, Sanjo N: Cross-Sectional Area Analysis of the Head of the Caudate Nucleus in Huntington's Disease. European neurology. 2019.04; 81 (1-2): 13-18. ( PubMed , DOI )

  6. Ishikawa Kinya: Calcium channel protein aggregations and role of lysozomes in SCA6 BRAIN PATHOLOGY. 2019.02; 29 8.

  1. Ishikawa Kinya, Ishiguro Taro, Nagai Yoshitaka: 神経疾患の克服を目指して　SCA31　分子病態とRNAシャペロンの役割(SCA31: molecular pathogenesis and role of RNA chaperone) 臨床神経学. 2018.12; 58 (Suppl.): S28. ( 医中誌 )

  2. Honda T, Nagao S, Hashimoto Y, Ishikawa K, Yokota T, Mizusawa H, Ito M: Tandem internal models execute motor learning in the cerebellum. Proceedings of the National Academy of Sciences of the United States of America. 2018.07; 115 (28): 7428-7433. ( PubMed , DOI )

  3. Itaya Sakiko, Kobayashi Zen, Ozaki Kokoro, Sato Nozomu, Numasawa Yoshiyuki, Ishikawa Kinya, Yokota Takanori, Matsuda Hiroshi, Shintani Shuzo: Spinocerebellar Ataxia Type 31 with Blepharospasm Internal Medicine. 2018.06; 57 (11): 1651-1654. ( 医中誌 )

  4. Higashi M, Ozaki K, Hattori T, Ishii T, Soga K, Sato N, Tomita M, Mizusawa H, Ishikawa K, Yokota T: A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. Journal of the neurological sciences. 2018.04; 387 187-195. ( PubMed , DOI )

  5. Itaya Sakiko, Kobayashi Zen, Ozaki Kokoro, Sato Nozomu, Numasawa Yoshiyuki, Ishikawa Kinya, Yokota Takanori, Matsuda Hiroshi, Shintani Shuzo: Spinocerebellar Ataxia Type 31 with Blepharospasm INTERNAL MEDICINE. 2018; 57 (11): 1651-1654. ( PubMed , DOI )

  1. Yajun Hu, Yuji Hashimoto, Takashi Ishii, Mamut Rayle, Kazumasa Soga, Nozomu Sato, Michi Okita, Miwa Higashi, Kokoro Ozaki, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota: Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects. J. Neurol. Sci.. 2017.11; 382 87-90. ( PubMed , DOI )

  2. Hu Yajun, Hashimoto Yuji, Ishii Takashi, Rayle Mamut, Soga Kazumasa, Sato Nozomu, Okita Michi, Higashi Miwa, Ozaki Kokoro, Mizusawa Hidehiro, Ishikawa Kinya, Yokota Takanori: Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.11; 382 87-90.

  3. Ozaki K., Doi H., Mitsui J., Sato N., Yamane K., Majima T., Irioka T., Ishiura H., Doi K., Morishita S., Koyama K., Miura Y., Matsumoto N., Tanaka F., Tsuji S., Mizusawa H., Yokota T., Ishikawa K.: Clinicoradiological characteristics of SCA34 patients with the hot cross bun sign caused by the P.TRP246GLY mutation in ELOVL4 JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 891. ( DOI )

  4. Higashi M., Ozaki K., Hattori T., Ishii T., Soga K., Sato N., Tomita M., Mizusawa H., Ishikawa K., Yokota T.: Cerebellar ataxia subgroups can be differentiated by pontine magnetic resonance imaging JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 305. ( DOI )

  5. Ishiguro T., Sato N., Ueyama M., Fujikake N., Sellier C., Tokuda E., Zamiri B., Gall-Duncan T., Mirceta M., Furukawa Y., Yokota T., Wada K., Taylor P., Pearson C. E., Charlet-Berguerand N., Mizusawa H., Nagai Y., Ishikawa K.: Balance between RNA binding proetin TDP-43 and an RNA UGGAA repeat underlies pathogenesis of spinocerebellar ataxia type 31 (SCA31) and motor neuron disease fly models JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 56. ( DOI )

  6. Ueyama M., Ishiguro T., Konno T., Koyama A., Wada K., Ishikawa K., Onodera O., Nagai Y.: Repeat associated non-atg translation and its regulation in C9orf72-associated amyotrophic lateral sclerosis/frontotemporal dementia model fly JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 717. ( DOI )

  7. Sato N., Yokota T., Mizusawa H., Ishikawa K.: Pentanucleotide-repeat-associated unconventional translation is observed in spinocerebellar ataxia type 31 JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 893-894. ( DOI )

  8. Takahashi Y., Ishikawa K., Ugawa Y., Onodera O., Kira J. I., Kuwabara S., Sasaki H., Sobue G., Takashima H., Takiyama Y., Takeda A., Tsuji S., Nakashima K., Miyai I., Yoshida K., Mizusawa H.: Japan Consortium of Ataxias (J-Cat): A Cloud -Based national registry for degenerative ataxias providing framework for genetic diagnosis and Prospective Natural History Researches JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 55. ( DOI )

  9. Shimmura Mitsunori, Uehara Taira, Yamashita Kenichiro, Shigeto Hiroshi, Yamasaki Ryo, Ishikawa Kinya, Kira Jun-Ichi: Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation JOURNAL OF THE NEUROLOGICAL SCIENCES. 2017.10; 381 4-6. ( PubMed , DOI )

  10. Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J. Paul Taylor, Christopher E. Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, and Kinya Ishikawa: Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. Neuron. 2017.04; 94 (1): 108-124. ( PubMed , DOI )

  11. Kazumasa Soga, Kinya Ishikawa, Tokuro Furuya, Tadatsune Iida, Tetsuo Yamada, Noboru Ando, Kiyobumi Ota, Hiromi Kanno-Okada, Shinya Tanaka, Masayuki Shintaku, Yoshinobu Eishi, Hidehiro Mizusawa, Takanori Yokota: Gene dosage effect in spinocerebellar ataxia type 6 homozygotes: A clinical and neuropathological study. J Neurol Sci. 2017.02; 373 321-328. ( PubMed , DOI )

  12. Sakiko Chikazawa, Takaaki Hanafusa, Kokoro Ozaki, Takeshi Namiki, Maki Amano, Makiko Ueno, Shown Tokoro, Ken Igawa, Takefumi Sato, Kinya Ishikawa, Takanori Yokota, Hiroo Yokozeki: Incomplete Behçet's disease with calf muscle pain and MRI hyperintensity due to possible thrombophlebitis. Eur J Dermatol. 2017.02; 27 (1): 76-77. ( PubMed , DOI )

  1. Kokoro Ozaki, Takashi Irioka, Kinya Ishikawa, Hidehiro Mizusawa: CADASIL with a Novel NOTCH3 Mutation (Cys478Tyr). J Stroke Cerebrovasc Dis. 2015.01; ( PubMed , DOI )

  1. Masato Obayashi, Giovanni Stevanin, Matthis Synofzik, Marie-Lorraine Monin, Charles Duyckaerts, Nozomu Sato, Nathalie Streichenberger, Alain Vighetto, Virginie Desestret, Christelle Tesson, H-Erich Wichmann, Thomas Illig, Johanna Huttenlocher, Yasushi Kita, Yuishin Izumi, Hidehiro Mizusawa, Ludger Schöls, Thomas Klopstock, Alexis Brice, Kinya Ishikawa, Alexandra Dürr: Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J. Neurol. Neurosurg. Psychiatr.. 2014.12; ( PubMed , DOI )

  2. Chikara Yamashita, Hiroyuki Tomiyama, Manabu Funayama, Saeko Inamizu, Maya Ando, Yuanzhe Li, Hiroyo Yoshino, Takehisa Araki, Tadashi Ichikawa, Yoshiro Ehara, Kinya Ishikawa, Hidehiro Mizusawa, Nobutaka Hattori: Evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease. Neurobiol. Aging. 2014.07; 35 (7): 1779.e17-1779.e21. ( PubMed , DOI )

  3. Kiyobumi Ota, Masato Obayashi, Kokoro Ozaki, Shizuko Ichinose, Akiyoshi Kakita, Mari Tada, Hitoshi Takahashi, Noboru Ando, Yoshinobu Eishi, Hidehiro Mizusawa, Kinya Ishikawa: Relocation of p25α/tubulin polymerization promoting protein from the nucleus to the perinuclear cytoplasm in the oligodendroglia of sporadic and COQ2 mutant multiple system atrophy. Acta Neuropathol Commun. 2014; 2 136. ( PubMed , DOI )

  1. 石川 欽也, 石黒 太郎, 佐藤 望, 永井 義隆: 【非翻訳領域の繰り返し配列伸長変異による神経疾患の臨床および病態機序】RNA結合蛋白と病態機序 脳神経内科. 2019.10; 91 (4): 458-464. ( 医中誌 )

  2. 融 衆太, 石田 尚子, 内原 俊記, 北川 昌伸, 廣川 勝いく, 石川 欽也: 認知障害を呈し、剖検で嗜銀性顆粒を認めた脊髄小脳変性症31型の87歳男性例 Dementia Japan. 2019.10; 33 (4): 542. ( 医中誌 )

  3. 石川 欽也: 【多系統萎縮症-新たな展開】臨床的広がり　小脳症候MSA-C Clinical Neuroscience. 2019.09; 37 (9): 1082-1084. ( 医中誌 )

  4. 石川 欽也: 【小脳学習説Marr-Albus-Ito理論の50年】機能障害と治療　脊髄小脳変性症の分子病態 Clinical Neuroscience. 2019.08; 37 (8): 1003-1006. ( 医中誌 )

  5. 石川 欽也: 【医薬品副作用学(第3版)下-薬剤の安全使用アップデート-】臓器・系統別副作用各論　重大な副作用を中心に　神経・筋骨格系　運動失調 日本臨床. 2019.07; 77 (増刊4 医薬品副作用学(下)): 342-344. ( 医中誌 )

  6. 石川 欽也: 【嚥下障害と誤嚥性肺炎】主な神経疾患の嚥下障害の臨床　脊髄小脳変性症 Clinical Neuroscience. 2019.05; 37 (5): 558-560. ( 医中誌 )

  7. 石川 欽也: 原著から今日まで　代表的疾患の変遷　特徴的なめまいを示す脊髄小脳変性症SCA6 Equilibrium Research. 2019.04; 78 (2): 55-60. ( 医中誌 )

  1. 尾崎 心, 安斉 綾香, 石井 俊, 東 美和, 佐藤 望, 大北 倫, 曽我 一將, 水澤 英洋, 石川 欽也, 横田 隆徳: 本邦におけるSCA34の遺伝疫学的調査 臨床神経学. 2018.12; 58 (Suppl.): S266. ( 医中誌 )

  2. 入岡 隆, 高橋 祐子, 大谷 泰, 小林 正樹, 石川 欽也, 横田 隆徳: 肺小細胞癌に伴う傍腫瘍性感覚性ニューロパチーを呈したHu抗体陰性、カルシウムチャネル抗体・SOX1抗体共陽性の71歳男性例 臨床神経学. 2018.12; 58 (12): 785. ( 医中誌 )

  3. 齋藤 明日香, 服部 高明, 宮下 彰子, 飯田 真太朗, 小林 正樹, 赤座 美穂, 石橋 哲, 叶内 匡, 三條 伸夫, 石川 欽也, 横田 隆徳: 高CK血症を呈する筋萎縮性側索硬化症の筋生検所見の検討 臨床神経学. 2018.12; 58 (Suppl.): S291. ( 医中誌 )

  4. 石川 欽也: 【リピート病の病態機構UPDATE-RNA毒性とRAN翻訳】リピート伸長に起因する脊髄小脳変性症の病態と治療戦略 医学のあゆみ. 2018.12; 267 (11-12): 836-842. ( 医中誌 )

  5. 尾崎 心, 水澤 英洋, 石川 欽也, 横田 隆徳: 脂肪酸伸長酵素ELOVL4/5の変異がもたらす脊髄小脳失調症 お茶の水医学雑誌. 2018.10; 66 (2): 297-305. ( 医中誌 )

  6. 永井 義隆, 石川 欽也: 核酸の恒常性維持と神経変性　ノンコーディングリピート病におけるRNA凝集、RNA翻訳と神経変性メカニズム Dementia Japan. 2018.09; 32 (3): 398. ( 医中誌 )

  7. 永井 義隆, 石川 欽也: 脳タンパク質老化と神経変性　TDP-43のRNAシャペロンとしての新機能　脊髄小脳失調症31型(SCA31)の変異RNA凝集とリピート関連翻訳に対する制御機構 日本生化学会大会プログラム・講演要旨集. 2018.09; 91回 [3S05m-02]. ( 医中誌 )

  8. 石川 欽也: 【神経難病と創薬】脊髄小脳変性症に対する創薬の展望 医薬ジャーナル. 2018.07; 54 (7): 1641-1647. ( 医中誌 )

  9. 石川 欽也: 遺伝性脊髄小脳変性症の鑑別診断 パーキンソン病・運動障害疾患コングレスプログラム・抄録集. 2018.07; 12回 49. ( 医中誌 )

  10. 石川 欽也: 脊髄小脳変性症の最近の話題　脊髄小脳失調症の治療の進歩 神経治療学. 2018.05; 35 (3): 326. ( 医中誌 )

  11. 石川 欽也: 【神経疾患の再生医療】間葉系幹細胞による研究　多系統萎縮症の治療 Clinical Neuroscience. 2018.03; 36 (3): 364-366. ( 医中誌 )

  12. 石川 欽也: 【脊髄小脳変性症の最近の治療と研究】[第3部]脊髄小脳失調症31型(SCA31)の最新研究 難病と在宅ケア. 2018.02; 23 (11): 14-16. ( 医中誌 )

  1. 石川 欽也: リピート病における神経変性の分子機構解明を目指して　脊髄小脳失調症31型(SCA31)の病態 生命科学系学会合同年次大会. 2017.12; 2017年度 [3PW23-6]. ( 医中誌 )

  2. 石川 欽也: 脊髄小脳変性症の最近の話題　脊髄小脳失調症の治療の進歩 神経治療学. 2017.11; 34 (6): S109. ( 医中誌 )

  3. 石川 欽也: 【脊髄小脳変性症(SCD)-最新診療マニュアル】診断と診断基準　診断のアルゴリズム Clinical Neuroscience. 2017.09; 35 (9): 1067-1069. ( 医中誌 )

  4. 石川 欽也: 【新しく発見された神経疾患遺伝子】遺伝性脊髄小脳変性症の新しい遺伝子と病態 神経内科. 2017.08; 87 (2): 136-141. ( 医中誌 )

  5. 石川 欽也: 【多系統萎縮症の新しい道】[第4部]多系統萎縮症に対する新しい治療展開 難病と在宅ケア. 2017.05; 23 (2): 18-19. ( 医中誌 )

  6. 石川 欽也, 吉田 雅幸: 【最新遺伝医学研究と遺伝カウンセリング　シリーズ2　最新精神・神経遺伝医学研究と遺伝カウンセリング】(第2章)精神・神経疾患の遺伝医学研究・診療各論　脊髄小脳変性症 遺伝子医学MOOK. 2017.04; 別冊 (最新精神・神経遺伝医学研究と遺伝カウンセリング): 138-142. ( 医中誌 )

  7. Yamazaki M, Fukuda T, Ishikawa K, Goto J: [An Autopsied Case of Familial Spinocerebellar Degeneration Presenting with Late-Onset Autonomic Dysfunction]. Brain and nerve = Shinkei kenkyu no shinpo. 2017.03; 69 (3): 277-286. ( PubMed , DOI )

  8. 山崎 幹大, 福田 隆浩, 石川 欽也, 後藤 淳, 河村 満, 井口 保之, 小野 賢二郎, 織茂 智之, 鈴木 正彦, 田久保 秀樹, 藤ヶ崎 純子, 星野 晴彦: Neurological CPC　全経過が6年で晩期に自律神経障害を呈した家族性脊髄小脳変性症の63歳男性剖検例 BRAIN and NERVE: 神経研究の進歩. 2017.03; 69 (3): 277-286. ( 医中誌 )

  1. Satoko Sakakibara, Ikuko Aiba, Yufuko Saito, Akira Inukai, Kinya Ishikawa, Hidehiro Mizusawa: [Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6)]. Rinsho Shinkeigaku. 2014; 54 (6): 473-479. ( PubMed )

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