研究室紹介Laboratories

Back
Top > 研究室紹介 > 先端応用医学(協力) > 神経遺伝情報学

先端応用医学(協力)分子遺伝学

研究室概要

（いずれ更新していきます）


挨拶文

　この度、2025年1月1日付けで、名古屋大学大学院医学系研究科附属神経疾患・腫瘍分子医学研究センター分子遺伝学分野 (旧-神経遺伝情報学・大野欽司先生)の教授を拝命いたしました中沢由華と申します。名古屋大学医学部学友会の皆様に謹んでご挨拶を申し上げます。

 

　私は、2002年に長崎大学環境科学部を卒業後、同大学大学院へ進学し、吉川勲教授のご指導のもと、放射線生物学と遺伝学の基礎を学びました。吉川先生の研究室では、モデル生物のショウジョウバエを用いて、電離放射線によって生じる様々なDNAの傷を個体レベルで評価する実験系により、放射線の生体影響の研究を行いました。博士課程に進学後は、ヒバクシャ医療の第一人者である山下俊一教授の研究室で、放射線被ばくや抗がん剤投与などによって生じる、DNA損傷の人体への影響に関する研究を行いました。吉川先生、山下先生のご指導を通じて、DNA損傷やDNA修復機構に関する基礎研究が、がんや老化関連疾患など、高齢化社会が直面している医学的課題を理解する上でも、極めて重要であることを実感し、自らの研究テーマとして取り組む決意を固めました。

　学位取得後は、長崎大学でJSTのテニュアトラック助教として研究活動を開始し、この間、プリオン研究の第一人者でいらっしゃる片峰茂長崎大学元学長のサポートを受け、DNA修復機構の分子メカニズムの解明や新規DNA修復関連因子の探索に取り組みました。また、DNA修復機構の異常が引き起こす様々な疾患の分子病態についても研究を展開してきました。大学院卒業直後から、大変恵まれた環境で研究することができ、片峰先生の若手研究者育成への尽力と、長崎大学での自由な研究環境の提供には、今も感謝の念が尽きません。

　その後、2018年に名古屋大学環境医学研究所に着任し、テニュアトラック助教として再度研究基盤を構築しました。研究者として独り立ちすることを意識し、新たな挑戦を続ける中で、ライフワークであるDNA修復に関する研究を一貫して推進し、無事に再度テニュアを取得しました。現在では、多くの優れた研究者や学生たちと切磋琢磨しながら研究を進めております。

　当研究室では、「DNA修復機構」「DNA損傷の蓄積によって発症する疾患」をキーワードに、「疾患ゲノム解析」や「次世代ゲノム解析技術の基礎利用」を基盤とした新たな研究を積極的に展開していく予定です。これらの研究を通じて、基礎医学研究の成果を蓄積し、臨床応用への橋渡しとなる技術基盤の構築に取り組んでまいります。また、学内外や国内外の研究者との連携を深め、幅広い研究交流にも積極的に取り組む所存です。

　我々、基礎医学研究者の使命は、生命科学の根源的な問いに挑み、疾病の理解と治療法の開発を通じて社会に貢献すること、そしてこれを担う次世代の研究者を育成することだと考えております。当研究室では、特に研究者を目指す若手医師を歓迎し、自由で活発な議論と協働を通じて、一人ひとりの潜在能力を最大限に引き出す研究環境を提供したいと考えております。意欲を持った若手医師や研究者とともに、新しい発見を追求していけることを心から楽しみにしています。今後、医学系研究科の教員として、教育・研究・医療に貢献することで、少しでも多くの方々に恩返しができるよう尽力していく所存です。

　着任にあたり、これまでお世話になった多くの方々に深く感謝申し上げます。そして、新たな環境で、学生や共同研究者の皆様とともに研究を進めることを楽しみにしています。今後とも、どうぞご指導ご鞭撻のほど、よろしくお願い申し上げます。

研究プロジェクト

（いずれ更新していきます）

教員

構成員名役職所属
中沢 由華 教授 分子遺伝学
伊藤 美佳子 講師 分子遺伝学
濵口　知成 特任講師 学術研究・産学官連携推進本部メディカルイノベーション推進室

研究実績

  • 2024年
    1. Ohkawara B, Kurokawa M, Kanai A, Imamura K, Chen G, Zhang R, Masuda A, Higashi K, Mori H, Suzuki Y, Kurokawa K, Ohno K. Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis. J Neurochem 2024, 168: 342-354.
    2. Ohkawara B*, Tomita H*, Inoue T, Zhang S, Kanbara S, Koshimizu H, Miyasaka Y, Takeda, J, Nishiwaki H, Nakashima H, Ito M, Masuda A, Ishiguro N, Ogi T, Ohno T, Imagama S, Ohno K. Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2. Neurotherapeutics 21: e00318, 2024. *Equal contributions.
    3. Farshadyeganeh P, Yamada T, Ohashi H, Nishimura G, Fujita H, Oishi Y, Nunode M, Ishikawa S, Murotsuki J, Yamashita Y, Ikegawa S, Ogi T, Arikawa-Hirasawa E, Ohno K. Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients J Hum Genet in press.
    4. Funahashi H, Matsushita M, Esaki R, Mishima K, Ohkawara B, Kamiya Y, Takegami Y, Ohno K, Kitoh H, Imagama S. Long-term oral meclozine administration improves survival rate and spinal canal stenosis during postnatal growth in a mouse model of achondroplasia in both sexes. JBMR Plus 2024, 8: ziae018.
    5. Tachibana M, Inada T, Kimura H, Ito M, Kuwatsuka Y, Kinoshita F, Mori, D, Ohno K. Extremely Low Frequency, Extremely Low Magnetic Environment for Depression: An Open-Label Trial. Asian J Psychiatry in press.
    6. Nishiwaki H, Ueyama J, Ito M, Hamaguchi T, Takimoto K, Maeda T, Kashihara K, Tsuboi Y, Mori H, Kurokawa K, Katsuno M, Hirayama M, Ohno K. Meta-analysis of shotgun sequencing of gut microbiota in Parkinson’s disease. npj Parkinsons Dis in press
  • 2023年
    1. Kawashima I, Matsushita M, Mishima K, Kamiya Y, Osawa Y, Ohkawara B, Ohno K, Kitoh H, Imagama S. Activated fgfr3 suppresses bone regeneration and bone mineralization in an ovariectomized mouse model. BMC Musculoskelet Disord 2023, 24: 200.
    2. Zhang S, Ohkawara B, Ito M, Huang Z, Zhao F, Nakata T, Takeuchi T, Sakurai H, Komaki H, Kamon M, Araki T, and Ohno K. A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. Hum Mol Genet 2023, 32: 1511-1523.
    3. Kamiya Y, Matsushita M, Mishima K, Ohkawara B, Michigami T, Imagama S, Ohno K, Kitoh H. Meclozine ameliorates bone mineralization and growth plate structure in a mouse model of X‑linked hypophosphatemia. Exp Ther Med 2023, 25: 39.
    4. Shen XM, Nakata T, Mizuno S, Imoto I, Selcen D, Ohno K, Engel AG. Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast channel myasthenia. Ann Clin Transl Neurol 2023, 10: 732-43.
    5. Yamashita Y, Nakada S, Nakamura K, Sakurai H, Ohno K, Goto T, Mabuchi Y, Akazawa C, Hattori N, Arikawa-Hirasawa E. Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles. Biomedicines, 2023, 11: 814.
    6. Fuse Y, Nishiwaki H, Imaizumi T, Nagata Y, Ohno K, Saito R. Machine learning models predict delayed hyponatremia post-transsphenoidal surgery using clinically available features. Pituitary, 2023, 26: 237-249.
    7. Bushra S*, Lin Y*, Joudaki A, Ito M, Ohkawara B, Ohno K, Masuda A. Neural isoforms of agrin are generated by reduced PTBP1−RNA interaction network spanning the neuron-specific splicing regions in AGRN. Int J Mol Sci 2023, 24: 7420. *Equal contributions.
    8. Muraoka A, Suzuki M, Hamaguchi T, Watanabe S, Iijima K, Murofushi Y, Shinjo K, Osuka S, Hariyama Y, Ito M, Ohno K, Kiyono T, Kyo S, Iwase A, Kikkawa F, Kajiyama H, Kondo Y. Fusobacterium infection facilitates the development of endometriosis through the phenotypic transition of endometrial fibroblasts. Sci Trans Med 2023, 5: eadd1531.
    9. Farshadyeganeh P*, Nazim M*, Zhang R, Ohkawara B, Nakajima K, Rahman MA, Nasrin F, Ito M, Takeda J, Ohe K, Miyasaka Y, Ohno T, Masuda A, Ohno K. Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction. iScience 2023, 26: 107746. *Equal contributions.
    10. Joudaki A, Takeda J, Masuda A, Ode R, Fujiwara K, Ohno K. FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon. Genes 2023, 14: 1765.
    11. Huang Z, Ito M, Zhang S, Toda T, Takeda J, Ogi T, Ohno K. Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding. Ecotox Environ Safe 2023, 264: 115482.
    12. 220.\tFuse Y, Nagashima Y, Nishiwaki H, Ohka F, Muramatsu Y, Araki Y, Nishimura Y, Ienaga J, Nagatani T, Seki Y, Watanabe K, Ohno K, Saito R. Development of machine learning models for predicting unfavorable functional outcomes from preoperative data in patients with chronic subdural hematomas. Sci Rep 2023, 13: 16997.
    13. Ohno K, Ohkawara B, Shen X-M, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes – a comprehensive review. Int J Mol Sci 2023; 24: 3730 (査読有)
    14. LeBaron TW, Ohno K, Hancock JT. The On/off History of Hydrogen in Medicine: Will the interest persist this time around? Oxygen 2023, 3: 143-162 (査読有)
    15. Hirayama M, Nishiwaki H, Hamaguchi T, Ohno K. Gastrointestinal disorders in parkinson's disease and other lewy body diseases. npj Parkinsons Dis 2023, 9: 71. (査読有)
  • 2022年
    1. Tanaka H, Matsumura S, Ishikawa K, Hashizume H, Ito M, Nakamura K, Kajiyama H, Kikkawa F, Ito M, Ohno K, Okazaki Y, Toyokuni S, Mizuno M, Hori M. Enhancement of ethanol production and cell growth in budding yeast by direct irradiation of low-temperature plasma. Jpn J Appl Phys 2022, 61: SA1007.
    2. Sakaguchi T, Miyamoto K, Ohkawara B, Kisimoto Y, Ishizuka S, Hiraiwa H, Imagama S, Ishiguro N, Ohno K. Promethazine downregulates Wnt/β-catenin signaling and increases biomechanical forces of injured Achilles tendon in early stage of healing. Am J Sport Med 2022, 50: 1317-27.
    3. Takahashi K, Nishiwaki H, Ito M, Iwaoka K, Takahashi K, Suzuki Y, Taguchi K, Yamahara K, Tsuboi Y, Kashihara K, Hirayama M, Ohno K, Maeda T. Altered gut microbiota in Parkinson's disease patients with motor complications. Parkinsonism Relat Disord 2022, 95: 11-17.
    4. Kawamura Y, Hida T, Ohkawara B, Matsushita M, Kobayashi T, Ishizuka S, Hiraiwa H, Tanaka S, Tsushima M, Nakashima H, Ito K, Imagama S, Ito M, Masuda A, Ishiguro N, Ohno K. Meclozine ameliorates skeletal muscle pathology and increases muscle forces in mdx mice. Biochem Biophys Res Commun 2022, 592: 87-92.
    5. Hasegawa T, Ito M, Hasegawa S, Teranishi M, Takeda K, Negishi S, Nishiwaki H, Takeda J, LeBaron TW, Ohno K. Molecular hydrogen enhances proliferation of cancer cells that exhibit potent mitochondrial unfolded protein response. Int J Mol Sci 2022, 23: 2888.
    6. Koike H, Nishida Y, Shinomura T, Ohkawara B, Ohno K, Zhuo Lisheng, Kimata K, Ushida T, Imagama S. Possible repositioning of an oral anti-osteoporotic drug, Ipriflavone, for treatment of inflammatory arthritis via inhibitory activity of KIAA1199, a novel potent hyaluronidase. Int J Mol Sci 2022, 23, 4089
    7. Nishiwaki H, Ito M, Hamaguchi T, Maeda T, Kashihara K, Tsuboi Y, Ueyama J, Yoshida T, Hanada H, Takeuchi I, Katsuno M, Hirayama M, Ohno K. Short chain fatty acids-producing and mucin-degrading intestinal bacteria predict the progression of early Parkinson’s disease. npj Parkinsons Dis 2022, 8: 65.
    8. Toda T, Ito M Takeda J, Masuda A, Mino H, Hattori N, Mohri K, Ohno K. Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria. Commun Biol 2022, 5: 453.
    9. Ito K, Nishida Y, Hamada S, Shimizu K, Sakai T, Ohkawara B, Alman BA, Enomoto A, Ikuta K, Koike H, Zhang J, Ohno K, Imagama S. Efficacy of auranofin as an inhibitor of desmoid progression. Sci Rep 12: 11918, 2022.
    10. Gibo N, Hamaguchi T, Miki Y, Yamamura T, Nakaguro M, Ito M, Nakamuara M, Kawashima H, Hirayama M, Hirooka Y, Wakabayashi K, Ohno K. Examination of abnormal alpha-synuclein aggregates in the enteric neural plexus in patients with ulcerative colitis. J Gastrointestin Liver Dis 2022, 31: 290-300.
    11. Nishiwaki H, Ueyama J, Kashihara K, Ito M, Hamaguchi T, Maeda T, Tsuboi Y, Katsuno M, Hirayama M, Ohno K. Gut microbiota in dementia with Lewy bodies. npj Parkinsons Dis 2022, 8: 169.
    12. Ueyama J, Hayashi M, Hirayama M, Nishiwaki H, Ito M, Saito I, Tsuboi Y, Isobe T, Ohno K. Effects of pesticide intake on gut microbiota and metabolites in healthy adults. Int J Environ Res Public Health 2022, 20: 213.
    13. Mishima K, Okabe YT, Mizuno M, Ohno K, Kitoh H, Imagama S, Efficacy of soluble lansoprazole-impregnated beta-tricalcium phosphate for bone regeneration. Sci Rep 2022, 12: 20550.
    14. Hirayama M, Ohno K. Reply to the Letter to the Editor “The microbiota in Parkinson's disease: ranking the risk of heart disease”. Ann Nutr Metab 2022; 78: 119-120 (査読有)
    15. LeBaron TW, Sharpe R, Ohno K. Electrolyzed Reduced Water: Review I. Molecular hydrogen is the Exclusive Agent Responsible for the Therapeutic Effects. Int J Mol Sci 2022; 23(23): 14750 (査読有)
    16. LeBaron TW, Sharpe R, Ohno K. Electrolyzed Reduced Water: Review II. Safety Concerns and Effectiveness as a Source of Hydrogen Water. Int J Mol Sci 2022;　23(23): 14508 (査読有)
  • 2021年
    1. Kusano T, Nakatani M, Ishiguro N, Ohno K, Yamamoto N, Morita M, Yamada H, Uezumi A, Tsuchida K. Desloratadine inhibits heterotopic ossification by suppression of BMP2-Smad1/5/8 signaling. J Orthop Res 2021, 39: 1297–1304.
    2. Tawara N, Yamashita S, Takamatsu K, Yamasaki Y, Mukaino A, Nakane S, Farshadyeganeh P, Ohno K, Ando Y. Efficacy of salbutamol monotherapy in slow-channel congenital myasthenic syndrome caused by a novel mutation in CHRND. Muscle Nerve 2021, 63: E30-E32.
    3. Abe K, Hirayama M, Ohno K, Shimamura T. Hierarchical non-negative matrix factorization using clinical information for microbial communities. BMC Genomics 2021, 22: 104.
    4. Inoue T, Ohkawara B, Bushra S, Kanbara S, Nakashima H, Koshimizu H, Tomita H, Ito M, Masuda A, Ishiguro N, Imagama S, Ohno K. Zonisamide upregulates neuregulin-1 expression and enhances acetylcholine receptor clustering at the in vitro neuromuscular junction. Neuropharmacology 2021, 195: 108637.
    5. Takeda J*, Fukami S*, Tamura A, Shibata A, Ohno K. Intsplice2: Prediction of the splicing effects of intronic single-nucleotide variants using lightGBM modeling. Front Genet 2021, 12: 701076. *Equal contributions.
    6. Tanaka H, Maeda S, Nakamura K, Hashizume H, Ishikawa K, Ito M, Ohno K, Mizuno M, Motooka Y, Okazaki Y, Toyokuni S, Kajiyama H, Kikkawa F, Hori M. Plasma-activated Ringer’s lactate solution inhibits cellular respiratory system in HeLa cells. Plasma Processes and Polymers 2021, 18: e2100056.
    7. Kawachi T, Masuda A, Yamashita Y, Takeda J, Ohkawara B, Ito M, Ohno K. Regulated splicing of large exons is linked to phase-separation of vertebrate transcription factors. EMBO J 2021, 40(22): e107485.
    8. Hirayama M*, Nishiwaki H*, Hamaguchi T, Ito M, Ueyama J, Maeda T, Kashihara K, Tsuboi Y, Ohno K. Intestinal Collinsella may mitigate infection and exacerbation of COVID-19 by producing ursodeoxycholate. PLoS One 2021, 16: e0260451. *Equal contributions.
    9. Takemoto G, Matsushita M, Okamoto T, Ito T, Matsuura Y, Takashima C, Chen-Yoshikawa TF, Ebi H, Imagama S, Kitoh H, Ohno K, Hosono Y. Meclozine attenuates the MARK pathway in mammalian chondrocytes and ameliorates Fgf2-induced bone hyperossification in larval zebrafish. Front Cell Dev Biol 2021, 9: 694018.
    10. Ohkawara B, Ito M, Ohno K. Secreted signaling molecules at the neuromuscular junction in physiology and pathology. Int J Mol Sci 2021, 22: 2455 (査読有)
    11. Masuda A, Kawachi T, Ohno K. Rapidly growing protein-centric technologies to extensively identify protein-RNA interactions: Application to the analysis of co-transcriptional RNA processing. Int J Mol Sci 2021, 22: 5312. (査読有)
    12. Hirayama M, Ohno K. Parkinson’s disease and gut microbiota. Ann Nutr Metab 2021; 77 (Suppl 2):28-35. (査読有)
  • 2020年
    1. Ozeki N, Yamawaki-Ogata A, Narita Y, Mii S, Ushida K, Ito M, Hirano S, Kurokawa R, Ohno K, Usui A. Hydrogen water alleviates obliterative airway disease in mice. Gen Thorac Cardiovasc Surg 2020, 68: 158-163.
    2. Ueyama J, Oda M, Hirayama M, Sugitate K, Sakui N, Hamada R, Ito M, Saito I, Ohno K. Freeze-drying enables homogeneous and stable sample preparation for determination of fecal short-chain fatty acids. Anal Biochem 2020, 589: 113508.
    3. Huang K, Masuda A, Chen G, Bushra S, Kamon M, Araki T, Kinoshita M, Ohkawara B, Ito M, Ohno K. Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells. Sci Rep 2020, 10: 2558.
    4. Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T. Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair. Cell 2020, 180: 1228-1244 e24.
    5. Masuda A, Kawachi T, Takeda J, Ohkawara B, Ito M, Ohno K. tRIP-seq reveals repression of premature polyadenylation by co-transcriptional FUS-U1 snRNP assembly. EMBO Rep 2020, 21: e49890.
    6. Ohkawara B, Shen X, Selcen D, Nazim M, Bril V, Tarnopolsky MA, Brady L, Fukami S, Amato AA, Yis U, Ohno K, Engel AG. Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner. JCI Insight 2020, 5(7):e132023.
    7. Nishiwaki H, Ito M, Ishida T, Hamaguchi T, Maeda T, Kashihara K, Tsuboi Y, Ueyama J, Shimamura T, Mori H, Kurokawa K, Katsuno M, Hirayama M, Ohno K. Meta-Analysis of Gut Dysbiosis in Parkinson’s Disease. Mov Disord 2020, 35(9): 1626-1635.
    8. Takeda J, Nanatsue K, Yamagishi R, Ito M, Haga N, Hirata H, Ogi, Ohno K. InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. NAR Genomics and Bioinformatics 2020, 2(2): lqaa038.
    9. Ohkawara B*, Kobayakawa A*, Kanbara S, Hattori T, Kubota S, Ito M, Masuda A, Takigawa M, Lyons KM, Ishiguro N, Ohno K. CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junction. EMBO Rep 2020, 21(8): e48462. *Equal contribution
    10. Kanbara S, Ohkawara B, Nakashima H, Ohta K, Koshimizu H, Inoue T, Tomita H, Ito M, Masuda A, Ishiguro N, Imagama S, Ohno K. Zonisamide ameliorates progression of cervical spondylotic myelopathy in a rat model. Sci Rep 2020, 10: 13138.
    11. Huang K, Li J, Ito M, Takeda J, Ohkawara B, Ogi T, Masuda A, Ohno K. Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle. Front Mol Neurosci 2020, 13: 154.
    12. Nishiwaki H, Hamaguchi T, Ito M, Ishida T, Maeda T, Kashihara K, Tsuboi Y, Ueyama J, Shimamura T, Mori H, Kurokawa K, Katsuno M, Hirayama M, Ohno K. Short-chain fatty acid-producing gut microbiota is decreased in Parkinson's disease but not in rapid-eye-movement sleep behavior disorder. mSystems 2020, 5: e00797-00720.
    13. Takeuchi A, Takahashi Y, Iida K, Hosokawa M, Irie K, Ito M, Brown JB, Ohno K, Nakashima K, Hagiwara M. Identification of Qk as a Glial Precursor Cell Marker that Governs the Fate Specification of Neural Stem Cells to a Glial Cell Lineage. Stem. Stem Cell Rep 2020, 15: 883-897.
    14. Koshimizu H*, Ohkawara B*, Nakashima H, Ota K, Kanbara S, Inouse T, Tomita H, Sayo A, Kiryu-Seo S, Konishi H, Ito M, Masuda A, Ishiguro N, Imagama S, Kiyama H, Ohno K. Zonisamide ameliorates neuropathic pain by suppressing microglial activation in the spinal cord in a mouse model. Life Sci 2020, 263: 118577. *Equal contributions.
  • 2019年
    1. Okura T, Ohkawara B, Takegami Y, Ito M, Masuda A, Seki T, Ishiguro N, Ohno K. Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis. Sci Rep 2019, 9: 2808.
    2. Abe K, Hirayama M, Ohno K, Shimamura T. ENIGMA: an enterotype-like unigram mixture model for microbial association analysis. BMC Genomics 2019, 20: 191.
    3. Tsuda T, Nonome T, Goto S, Takeda J, Tsunoda M, Hirayama M, Ohno K. Application of Skin Gas GC/MS Analysis for Prediction of the Severity Scale of Parkinson’s Disease. Chromatography 2019, 40: 149-155.
    4. Kataoka N, Maeda A, Ohno K. RNA Diseases in Humans – From Fundamental Research to Therapeutic Applications. Front Mol Biosci, 2019, 6:53 (査読有)
  • 2018年
    1. Yu Y, Lin Y, Takasaki Y, Wang C, Kimura H, Xing J, Ishizuka K, Toyama M, Kushima I, Mori D, Arioka Y, Uno Y, Shiino T, Nakamura Y, Okada T, Morikawa M, Ikeda M, Iwata N, Okahisa Y, Takaki M, Sakamoto S, Someya T, Egawa J, Usami M, Kodaira M, Yoshimi A, Oya-Ito T, Aleksic B, Ohno K, Ozaki N. Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility. Transl Psychiatry 2018, 8: 12.
    2. Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A. MYRF is associated with encephalopathy with reversible myelin vacuolization. Ann Neurol 2018, 83: 98-106.
    3. Ito K*, Ohkawara B*, Yagi H, Nakashima H, Tsushima M, Ota K, Konishi H, Masuda A, Imagama S, Kiyama H, Ishiguro N, Ohno K. Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep 2018, 8: 434. *Equal contribution.
    4. Nishiwaki H, Ito M, Negishi S, Sobue S, Ichihara M, Ohno K. Molecular hydrogen upregulates heat shock response and collagen biosynthesis, and downregulates cell cycles: meta-analyses of gene expression profiles. Free Radic Res 2018, 52: 434-445.
    5. Takeuchi A, Iida K, Tsubota T, Hosokawa M, Denawa M, Brown JB, Ninomiya K, Ito M, Kimura H, Abe T, Kiyonari H, Ohno K, Hagiwara M. Loss of Sfpq causes long-gene transcriptopathy in the brain. Cell Rep 2018, 23: 1326-1341.
    6. Li J, Ito M, Ohkawara B, Masuda A, Ohno K. Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction. Sci Rep 2018, 8: 13577.
    7. Abe K, Hirayama M, Ohno K, Shimamura T. A latent allocation model for the analysis of microbial composition and disease. BMC Bioinformatics 2018, 19: 519.
    8. Hirayama M, Ito M, Minato T, Yoritaka A, LeBaron TW, Ohno K. Inhalation of hydrogen gas elevates urinary 8-hydroxy-2'-deoxyguanine in Parkinson's disease. Med Gas Res 2018, 8: 144-149.
    9. Suzuki A, Ito M, Hamaguchi T, Mori H, Takeda Y, Baba R, Watanabe T, Kurokawa K, Asakawa S, Hirayama M, Ohno K. Quantification of hydrogen production by intestinal bacteria that are specifically dysregulated in Parkinson's disease. PLoS One 2018, 13: e0208313.
    10. Yoritaka A, Ohtsuka C, Maeda T, Hirayama M, Abe T, Watanabe H, Saiki H, Oyama G, Fukae J, Shimo Y, Hatano T, Kawajiri S, Okuma Y, Machida Y, Miwa H, Suzuki C, Kazama A, Tomiyama M, Kihara T, Hirasawa M, Shimura H, Oda E, Ito M, Ohno K, Hattori N. Randomized, double-blind, multicenter trial of hydrogen water for Parkinson's disease. Mov Disord 2018, 33: 1505-1507.
    11. Ohno K, Takeda JI, Masuda A. Rules and tools to predict the splicing effects of exonic and intronic mutations. Wiley Interdiscip Rev RNA 2018, 9: e1451. (査読有)
    12. Ito M, Ohno K. Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations. Matrix Biol, 2018, 68-69: 628-636. (査読有)
  • 2017年
    1. Nazim M, Masuda A, Rahman MA, Nasrin F, Takeda JI, Ohe K, Ohkawara B, Ito M, Ohno K. Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms. Nucleic Acids Res 2017, 45: 1455-1468.
    2. Hasegawa S, Ito M, Fukami M, Hashimoto M, Hirayama M, Ohno K. Molecular hydrogen alleviates motor deficits and muscle degeneration in mdx mice. Redox Rep 2017, 22: 26-34.
    3. Matsushita M, Mishima K, Esaki R, Ishiguro N, Ohno K, Kitoh H. Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. J Neurosurg Pediatr 2017, 19: 91-95.
    4. Ito M*, Ehara Y*, Li J, Inada K, Ohno K. Protein-anchoring therapy of biglycan for mdx mouse model of Duchenne muscular dystrophy. Hum Gene Ther 2017, 28: 428-436. *Equal contribution.
    5. Takeda JI, Masuda A, Ohno K. Six GU-rich (6GUR) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq. Gene 2017, 518: 57-64.
    6. Kishimoto Y, Ohkawara B, Sakai T, Ito M, Masuda A, Ishiguro N, Shukunami C, Docheva D, Ohno K. Wnt/β-catenin signaling suppresses expressions of Scx, Mkx, and Tnmd in tendon-derived cells. PLoS One, 2017, 12: e0182051.
    7. Ahsan KB, Masuda A, Rahman MA, Takeda J, Nazim M, Ohkawara B, Ito M, Ohno K. SRSF1 suppresses selection of intron-distal 5’ splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein. Sci Rep 2017, 7: 10446.
    8. Tabeta K, Du X, Arimatsu K, Yokoji M, Takahashi N, Amizuka N, Hasegawa T, Crozat K, Maekawa T, Miyauchi S, Matsuda Y, Ida T, Kaku M, Hoebe K, Ohno K, Yoshie H, Yamazaki K, Moresco EM, Beutler B. An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue. Sci Rep 2017, 7: 11717.
    9. Miyamoto K, Ohkawra B, Ito M, Masuda A, Hirakawa A, Sakai T, Hiraiwa H, Hamada T, Ishiguro N, Ohno K. Fluoxetine ameliorates cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling. PLoS One 2017, 12: e0184388.
    10. Minato T, Maeda T, Fujisawa Y, Tsuji H, Nomoto K, Ohno K, Hirayama M. Progression of Parkinson's disease is associated with gut dysbiosis: Two-year follow-up study. PLoS One 2017, 12: e0187307.
    11. Gao KP, Ren YC, Wang JJ, Liu ZC, Li JN, Li LL, Wang BY, Li H, Wang YX, Cao YK, Ohno K, Zhai RH, Liang Z. Interactions between genetic polymorphisms of glucose metabolizing genes and smoking and alcohol consumption in the risk of type 2 diabetes mellitus. Appl Physiol Nutr Med 2017, 42: 1316-1321.
    12. Kasai T, Nakatani M, Ishiguro N, Ohno K, Yamamoto N, Morita M, Yamada H, Tsuchida K, Uezumi A. Promethazine hydrochloride inhibits ectopic fat cell formation in skeletal muscle. Am J Pathol 2017, 187: 2627-2634.
    13. Osawa Y, Matsushita M, Hasegawa S, Esaki R, Fujio M, Ohkawara B, Ishiguro N, Ohno K, Kitoh H. Activated FGFR3 promotes bone formation via accelerating endochondral ossification in mouse model of distraction osteogenesis. Bone 2017, 105: 42-49.
    14. Ohno K, Rahman MA, Nazim M, Nasrin F, Lin Y, Takeda JI, Masuda A. Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction. J Neurochem 2017, 142 Suppl 2: 64-72. (査読有)
    15. Ohno K, Ohkawara B, Ito M. Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders. Expert Opin Ther Targets 2017, 21: 949-958.(査読有)
  • 2016年
    1. Yagi H, Ohkawara B, Nakashima H, Ito K, Tsushima M, Ishii H, Noto K, Ohta K, Masuda M, Imagama S, Ishiguro N, Ohno K. Zonisamide enhances neurite elongation of primary motor neurons and facilitates peripheral nerve regeneration in vitro and in a mouse model. PLoS One 2016, 11: e0148470.
    2. Imai K, Kotani T, Tsuda H, Mano Y, Nakano T, Ushida T, Li H, Miki R, Sumigama S, Iwase A, Hirakawa A, Ohno K, Toyokuni S, Takeuchi H, Mizuno T, Suzumura A, Kikkawa F. Neuroprotective potential of molecular hydrogen against perinatal brain injury via suppression of activated microglia. Free Radic Biol Med 2016, 91: 154-163.
    3. Hasegawa S, Kitoh H, Ohkawara B, Mishima K, Matsushita M, Masuda A, Ishiguro N, Ohno K. Tranilast stimulates endochondral ossification by upregulating SOX9 and RUNX2 promoters. Biochem Biophys Res Commun, 2016, 470: 356-361.
    4. Gao K, Wang J, Li L, Zhai Y, Ren Y, You H, Wang B, Wu X, Li J, Liu Z, Li X, Huang Y, Luo XP, Hu D, Ohno K, Wang C. Polymorphisms in four genes (rs151290, rs972283, rs780094 and rs10830963) and their correlation with type 2 diabetes mellitus in Han Chinese in Henan Province, China. Int J Env Res Public Health 2016, 13.
    5. Takegami Y, Ohkawara B, Ito M, Masuda A, Nakashima H, Ishiguro N, Ohno K. R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/beta-catenin signaling in endochondral ossification. Biochem Biophys Res Commun 2016, 473: 255-264.
    6. Chen G, Masuda A, Konishi H, Ohkawara B, Ito M, Kinoshita M, Kiyama H, Matsuura T, Ohno K. Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy. Sci Rep 2016, 6: 25317.
    7. Hirayama M, Tsunoda M, Yamamoto M, Tsuda T, Ohno K. Serum tyrosine-to-phenylalanine ratio is low in Parkinson's disease. J Parkinsons Dis 2016, 6: 423-431.
    8. Nakashima H*, Ohkawara B*, Ishigaki S, Fukudome T, Ito K, Tsushima M, Konishi H, Okuno T, Yoshimura T, Ito M, Masuda A, Sobue G, Kiyama H, Ishiguro N, Ohno K. R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5. Sci Rep 2016, 6: 28512. *Equal contribution.
    9. Bruun GH, Doktor TK, Borch J-J, Masuda A, Krainer AR, Ohno K, Andresen BS. Global identification of hnRNP A1 binding sites for SSO-based splicing modulation. BMC Biol 2016, 14: 54.
    10. Shibata A, Okuno T, Rahman MA, Azuma Y, Takeda J, Masuda A, Selcen D, Engel AG, Ohno K. IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. J Hum Genet 2016, 61: 633-640.
    11. Muramatsu Y, Ito M, Oshima T, Kojima S, Ohno K. Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats. Pediatr Pulmonol 2016, 51: 928-935.
    12. Lin Y, Ohkawara B, Ito M, Misawa N, Miyamoto K, Takegami Y, Masuda A, Toyokuni S, Ohno K. Molecular hydrogen suppresses activated Wnt/beta-catenin signaling. Sci Rep 2016, 6: 31986.
    13. Shen X-M*, Okuno T*, Milone M, Otsuka K, Takahashi K, Komaki H, Giles E, Ohno K, Engel AG. Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating. Hum Mutat, 2016, 37: 1051-1059. *Equal contribution.
    14. Ushida T, Kotani T, Tsuda H, Imai K, Nakano T, Hirako S, Ito Y, Li H, Mano Y, Wang J, Miki R, Yamamoto E, Iwase A, Bando YK, Hirayama M, Ohno K, Toyokuni S, Kikkawa F. Molecular hydrogen ameliorates several characteristics of preeclampsia in the Reduced Uterine Perfusion Pressure (RUPP) rat model. Free Radic Biol Med 2016, 101: 524-533.
    15. Masuda A, Ohno K. Neurodegeneration-associated RNA-binding protein, FUS, regulates mRNA length. Atlas of Science. Ed. by Lynn C Yeoman. AoS Nordic AB, Stockholm, 2016, http://atlasofscience.org/neurodegeneration-associated-rna-binding-protein-fus-regulates-mrna-length/ (査読有)
    16. Ohno K, Yagi H, Ohkawara B. Repositioning again of zonisamide for nerve regeneration. Neural Regener Res 2016, 11: 541-542. (査読有)
    17. Ohno K. Is the serum creatine kinase level elevated in congenital myasthenic syndrome? J Neurol Neurosurg Psychiatry 2016, 87: 801. (査読有)
    18. Ohno K, Ohkawara B, Ito M. Recent advances in congenital myasthenic syndromes. Clin Exp Neuroimmunol 2016, 7: 246–259. (査読有)
    19. Masuda A, Takeda J, Ohno K. FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis. Wiley Interdiscip Rev RNA 2016, 7: 330-340. (査読有)
    20. Ohno K, Otsuka K, Ito M. Roles of collagen Q in MuSK antibody-positive myasthenia gravis. Chem Biol Interact 2016, 259: 266-270. (査読有)
  • 2015年
    1. Azuma Y, Nakata T, Tanaka M, Shen XM, Ito M, Iwata S, Okuno T, Nomura Y, Ando N, Ishigaki K, Ohkawara B, Masuda A, Natsume J, Kojima S, Sokabe M, Ohno K. Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits. Neuromuscul Disord, 2015; 25: 60-69.
    2. Matsushita M, Hasegawa S, Kitoh H, Mori K, Ohkawara B, Yasoda A, Masuda A, Ishiguro N, Ohno K. Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. Endocrinology, 2015; 156: 548-554.
    3. Tsunoda M, Hirayama M, Tsuda T, Ohno K. Noninvasive monitoring of plasma L-dopa concentrations using sweat samples in Parkinson's disease. Clin Chim Acta, 2015; 442: 52-55.
    4. Sobue S, Yamai K, Ito M, Ohno K, Ito M, Iwamoto T, Qiao S, Ohkuwa T, Ichihara M. Simultaneous oral and inhalational intake of molecular hydrogen additively suppresses signaling pathways in rodents. Mol Cell Biochem, 2015; 403: 231-241.
    5. Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol, 2015; 14: 274-282.
    6. Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG. Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia. JAMA Neurol, 2015; 72: 889-896.
    7. Udagawa T, Fujioka Y, Tanaka M, Honda D, Yokoi S, Riku Y, Ibi D, Nagai T, Yamada K, Watanabe H, Katsuno M, Inada T, Ohno K, Sokabe M, Okado H, Ishigaki S, Sobue G. FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization. Nat Commun, 2015; 6: 7098.
    8. Fujii H, Matsubara K, Sakai K, Ito M, Ohno K, Ueda M, Yamamoto A. Dopaminergic differentiation of stem cells from human deciduous teeth and their therapeutic benefits for Parkinsonian rats. Brain Res, 2015; 1613: 59-72.
    9. Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T, Adachi M, Osaka H, Nonaka R, Arikawa-Hirasawa E, Ohno K. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Neuromuscul Disord, 2015; 25: 667-671.
    10. Kishimoto Y, Kato T, Ito M, Azuma Y, Fukasawa Y, Ohno K, Kojima S. Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects. J Thorac Cardiovasc Surg, 2015; 150: 645-654 e643.
    11. Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K. SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome. Sci Rep, 2015; 5: 13208.
    12. Masuda A, Takeda J, Okuno T, Okamoto T, Ohkawara B, Ito M, Ishigaki S, Sobue G, Ohno K. Position-specific binding of FUS to nascent RNA regulates mRNA length. Genes Dev, 2015; 29: 1045-1057.
    13. Otsuka K, Ito M, Ohkawara B, Masuda A, Kawakami Y, Sahashi K, Nishida H, Mabuchi N, Takano A, Engel AG, Ohno K. Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling. Sci Rep, 2015; 5: 13928.
    14. Hasegawa S, Goto S, Tsuji H, Okuno T, Asahara T, Nomoto K, Shibata A, Fujisawa Y, Minato T, Okamoto A, Ohno K, Hirayama M. Intestinal Dysbiosis and Lowered Serum Lipopolysaccharide-Binding Protein in Parkinson's Disease. PLoS One, 2015; 10: e0142164.
    15. Yagi H, Ohkawara B, Nakashima H, Ito K, Tsushima M, Ishii H, Noto K, Ohta K, Masuda A, Imagama S, Ishiguro N, Ohno K. Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model. PLoS One, 2015; 10: e0142786.
    16. Mishima K, Kitoh H, Ohkawara B, Okuno T, Ito M, Masuda A, Ishiguro N, Ohno K. Lansoprazole upregulates polyubiquitination of TNF receptor associated factor 6 and facilitates Runx2-mediated osteoblastogenesis. EBioMedicine, 2015; 2: 2046-2061.
    17. Ito M, Ohno K. A hereditary mutation in Schwartz-Jampel syndrome. In: Atlas of Science, edited by LC Yeoman, 2015, AoS Nordic AB, Stockholm.
    18. Rahman MA, Ohno K. Splicing aberrations in congenital myasthenic syndromes. J Investig Genomics, 2015; 2: 00038.
    19. Rahman MA, Nasrin F, Masuda A, Ohno K. Decoding abnormal splicing code in human diseases. J Investig Genomics 2015; 2: 00016
    20. Ichihara M, Sobue S, Ito M, Ito M, Hirayama M, Ohno K. Beneficial biological effects and the underlying mechanisms of molecular hydrogen - comprehensive review of 321 original articles. Med Gas Res, 2015; 5: 12.
  • 2014年
    1. Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K. LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet, 2014; 23: 1856-1868.
    2. Inaguma Y, Hamada N, Tabata H, Iwamoto I, Mizuno M, Nishimura YV, Ito H, Morishita R, Suzuki M, Ohno K, Kumagai T, Nagata K. SIL1, a causative cochaperone gene of Marinesco-Sojgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex. EMBO Mol Med, 2014; 6: 414-429.
    3. Nakayama T, Nakamura H, Oya Y, Kimura T, Imahuku I, Ohno K, Nishino I, Abe K, Matsuura T. Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. J Hum Genet, 2014; 59: 129-133.
    4. Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology, 2014; 82: 1058-1064.
    5. Mano Y, Kotani T, Ito M, Nagai T, Ichinohashi Y, Yamada K, Ohno K, Kikkawa F, Toyokuni S. Maternal molecular hydrogen administration ameliorates rat fetal hippocampal damage caused by in utero ischemia-reperfusion. Free Radic Biol Med, 2014; 69: 324-330.
    6. Takamatsu A, Ohkawara B, Ito M, Masuda A, Sakai T, Ishiguro N, Ohno K. Verapamil protects against cartilage degradation in osteoarthritis by inhibiting Wnt/beta-catenin signaling. PLoS One, 2014; 9: e92699.
    7. Kobayashi M, Ohno T, Ihara K, Murai A, Kumazawa M, Hoshino H, Iwanaga K, Iwai H, Hamana Y, Ito M, Ohno K, Horio F. Searching for genomic region of high-fat diet-induced type 2 diabetes in mouse chromosome 2 by analysis of congenic strains. PLoS One, 2014; 9: e96271.
    8. Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K. LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity. Neurobiol Dis, 2014; 69: 200-205.
    9. Asai N, Ohkawara B, Ito M, Masuda A, Ishiguro N, Ohno K. LRP4 induces extracellular matrix productions and facilitates chondrocyte differentiation. Biochem Biophys Res Commun, 2014; 451: 302-307.
    10. Nasrin F, Rahman MA, Masuda A, Ohe K, Takeda J, Ohno K. HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform. Sci Rep, 2014; 4: 6841.
    11. Ohno K, Ohkawara B, Ito M, Engel AG. Molecular Genetics of Congenital Myasthenic Syndromes. In: eLS, 2014, John Wiley & Sons, Inc.
    12. Ohno K, Ito M, Kawakami Y, Ohtsuka K. Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis. J Mol Neurosci, 2014; 53: 359-361.
    13. Ohno K. Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis. J Neurol Neurosurg Psychiatry, 2014; 85: 831.
    14. Noda M, Ito M, Ohsawa I, Ohno K. Beneficial effects of hydrogen in the CNS and a new brain-stomach interaction. Eur J Neurodeg Dis, 2014; 3: 25-34.
    15. Noda M, Fujita K, Ohsawa I, Ito M, Ohno K. Multiple effects of molecular hydrogen and its distinct mechanism. J Neurol Disord, 2014; 2: 6.
  • 2013年
    1. Yamamoto R, Matsushita M, Kitoh H, Masuda A, Ito M, Katagiri T, Kawai T, Ishiguro N, Ohno K. Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice. J Bone Miner Metab, 2013; 31: 26-33.
    2. Sayeed S, Asano E, Ito S, Ohno K, Hamaguchi M, Senga T. S100A10 is required for the organization of actin stress fibers and promotion of cell spreading. Mol Cell Biochem, 2013; 374: 105-111.
    3. Iio A, Ito M, Itoh T, Terazawa R, Fujita Y, Nozawa Y, Ohsawa I, Ohno K, Ito M. Molecular hydrogen attenuates fatty acid uptake and lipid accumulation through downregulating CD36 expression in HepG2 cells. Med Gas Res, 2013; 3: 6.
    4. Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K. Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction. Hum Mutat, 2013; 34: 997-1004.
    5. Tanisawa K, Mikami E, Fuku N, Honda Y, Honda S, Ohsawa I, Ito M, Endo S, Ihara K, Ohno K, Kishimoto Y, Ishigami A, Maruyama N, Sawabe M, Iseki H, Okazaki Y, Hasegawa-Ishii S, Takei S, Shimada A, Hosokawa M, Mori M, Higuchi K, Takeda T, Higuchi M, Tanaka M. Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes. BMC Genomics, 2013; 14: 248.
    6. Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG. GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology, 2013; 81: 370-378.
    7. Tsunoda M, Hirayama M, Ohno K, Tsuda T. A simple analytical method involving the use of a monolithic silica disk-packed spin column and HPLC-ECD for determination of L-DOPA in plasma of patients with Parkinson's disease. Analytical Methods, 2013; 5: 5161-5164.
    8. Fujioka Y, Ishigaki S, Masuda A, Iguchi Y, Udagawa T, Watanabe H, Katsuno M, Ohno K, Sobue G. FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD. Sci Rep, 2013; 3: 2388.
    9. Kitoh H, Achiwa M, Kaneko H, Mishima K, Matsushita M, Kadono I, Horowitz JD, Sallustio BC, Ohno K, Ishiguro N. Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial. Orphanet J Rare Dis, 2013; 8: 163.
    10. Matsushita M, Kitoh H, Ohkawara B, Mishima K, Kaneko H, Ito M, Masuda A, Ishiguro N, Ohno K. Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. PLoS One, 2013; 8: e81569.
    11. Rahman MA, Masuda A, Ohe K, Ito M, Hutchinson DO, Mayeda A, Engel AG, Ohno K. HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. Sci Rep, 2013; 3: 2931.
    12. Honda D, Ishigaki S, Iguchi Y, Fujioka Y, Udagawa T, Masuda A, Ohno K, Katsuno M, Sobue G. The ALS/FTLD-related RNA-binding proteins TDP-43 and FUS have common downstream RNA targets in cortical neurons. FEBS Open Bio, 2013; 4: 1-10.
    13. Ohe K, Masuda A, Ohno K. Intronic and exonic nucleotide variations that affect RNA splicing in humans. In: Genomics I – Humans, Animals and Plants. pp. 29-46, 2013, iConcept Press.
    14. Ohno K, Ito M, Kawakami Y, Krejci E, Engel AG. Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis. Chem Biol Interact, 2013; 203: 335-340.
    15. Ohno K. Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes. J Neurol Neurosurg Psychiatry, 2013; 84: 1064.
  • 2012年
    1. Masuda A, Andersen HS, Doktor TK, Okamoto T, Ito M, Andresen BS, Ohno K. CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. Sci Rep, 2012; 2: 209.
    2. Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y. A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes. J Neurol Sci, 2012; 315: 15-19.
    3. Ito M, Suzuki Y, Okada T, Fukudome T, Yoshimura T, Masuda A, Takeda S, Krejci E, Ohno K. Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction. Mol Ther, 2012; 20: 1384-1392.
    4. Ito M, Hirayama M, Yamai K, Goto S, Ito M, Ichihara M, Ohno K. Drinking hydrogen water and intermittent hydrogen gas exposure, but not lactulose or continuous hydrogen gas exposure, prevent 6-hydorxydopamine-induced Parkinson's disease in rats. Med Gas Res, 2012; 2: 15.
    5. Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T. The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. PLoS One, 2012; 7: e38379.
    6. Ishigaki S, Masuda A, Fujioka Y, Iguchi Y, Katsuno M, Shibata A, Urano F, Sobue G, Ohno K. Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions. Sci Rep, 2012; 2: 529.
    7. Yamashita Y, Matsuura T, Shinmi J, Amakusa Y, Masuda A, Ito M, Kinoshita M, Furuya H, Abe K, Ibi T, Sahashi K, Ohno K. Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy. J Hum Genet, 2012; 57: 368-374.
    8. Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I. Myotonic dystrophy type 2 is rare in the Japanese population. J Hum Genet, 2012; 57: 219-220.
    9. Engel AG, Shen X-M, Ohno K, Sine SM. Congenital myasthenic syndromes. In: Myasthenia gravis and myasthenic disorders 2nd ed., edited by AG Engel. pp. 173-230, 2012, Oxford University Press, New York.
    10. Ohno K, Ito M, Engel AG. Congenital Myasthenic Syndromes -Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction- In: Neuromuscul Disord. pp. 175-200, 2012, InTech, Rijeka.
    11. Ohno K, Ito M, Ichihara M, Ito M. Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases. Oxid Med Cell Longev, 2012; 2012: 353152.
  • 2011年
    1. Selcen D, Juel VC, Hobson-Webb LD, Smith EC, Stickler DE, Bite AV, Ohno K, Engel AG. Myasthenic syndrome caused by plectinopathy. Neurology, 2011; 76: 327-336.
    2. Hirayama M, Nakamura T, Watanabe H, Uchida K, Hama T, Hara T, Niimi Y, Ito M, Ohno K, Sobue G. Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's disease. Parkinsonism Relat Disord, 2011; 17: 46-49.
    3. Fu Y, Masuda A, Ito M, Shinmi J, Ohno K. AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res, 2011; 39: 4396-4404.
    4. Itoh T, Hamada N, Terazawa R, Ito M, Ohno K, Ichihara M, Nozawa Y, Ito M. Molecular hydrogen inhibits lipopolysaccharide/interferon gamma-induced nitric oxide production through modulation of signal transduction in macrophages. Biochem Biophys Res Commun, 2011; 411: 143-149.
    5. Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K. Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. Hum Genet, 2011; 130: 671-683.
    6. Ito M, Ibi T, Sahashi K, Ichihara M, Ito M, Ohno K. Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies. Med Gas Res, 2011; 1: 24.
    7. Kawakami Y, Ito M, Hirayama M, Sahashi K, Ohkawara B, Masuda A, Nishida H, Mabuchi N, Engel AG, Ohno K. Anti-MuSK autoantibodies block binding of collagen Q to MuSK. Neurology, 2011; 77: 1819-1826.
    8. Ohno K, Engel AG. Molecular defects of acetylcholine receptor subunits in congenital myasthenic syndromes. In: Pharmacology of Nicotinic Acetylcholine Receptors from the Basic and Therapeutic Perspectives, edited by HR Arias. pp. 175-186, 2011, Research Signpost, Kerala.
    9. Ohno K, Masuda A. RNA pathologies in neurological disorders. In: Neurochemical Mechanisms in Disease, edited by JP Blass. pp. 399-415, 2011, Springer, New York.
    10. Ohta S, Nakao A, Ohno K. The 2011 Medical Molecular Hydrogen Symposium: An inaugural symposium of the journal Medical Gas Research. Med Gas Res, 2011; 1: 10.
  • 2009年
    1. Fu Y, Ito M, Fujita Y, Ito M, Ichihara M, Masuda A, Suzuki Y, Maesawa S, Kajita Y, Hirayama M, Ohsawa I, Ohta S, Ohno K. Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease. Neurosci Lett, 2009; 453: 81-85.
    2. Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology, 2009; 73: 228-235.
    3. Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum Mol Genet, 2009; 18: 1229-1237.
    4. Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One, 2009; 4: e4553.
    5. Kurosaki T, Matsuura T, Ohno K, Ueda S. Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene. Mol Biol Evol, 2009; 26: 2573-2579.
    6. Itoh T, Fujita Y, Ito M, Masuda A, Ohno K, Ichihara M, Kojima T, Nozawa Y, Ito M. Molecular hydrogen suppresses FcepsilonRI-mediated signal transduction and prevents degranulation of mast cells. Biochem Biophys Res Commun, 2009; 389: 651-656.
  • 2008年
    1. Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics, 2008; 9: 61-63.
    2. Gao K, Masuda A, Matsuura T, Ohno K. Human branch point consensus sequence is yUnAy. Nucleic Acids Res, 2008; 36: 2257-2267.
    3. Kurosaki T, Matsuura T, Ohno K, Ueda S. Long-range PCR for the diagnosis of spinocerebellar ataxia type 10. Neurogenetics, 2008; 9: 151-152.
    4. Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG. Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J Clin Invest, 2008; 118: 1867-1876.
    5. Ito M, Masuda A, Jinno S, Katagiri T, Krejci E, Ohno K. Viral vector-mediated [corrected] expression of human collagen Q in cultured cells. Chem Biol Interact, 2008; 175: 346-348.
    6. Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K. hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet, 2008; 17: 4022-4035.
  • 2007年
    1. Masuda A, Hashimoto K, Yokoi T, Doi T, Kodama T, Kume H, Ohno K, Matsuguchi T. Essential role of GATA transcriptional factors in the activation of mast cells. J Immunol, 2007; 178: 360-368.
    2. Ichihara M, Murakumo Y, Masuda A, Matsuura T, Asai N, Jijiwa M, Ishida M, Shinmi J, Yatsuya H, Qiao S, Takahashi M, Ohno K. Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities. Nucleic Acids Res, 2007; 35: e123.
    3. Sahashi K, Masuda A, Matsuura T, Shinmi J, Zhang Z, Takeshima Y, Matsuo M, Sobue G, Ohno K. In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Res, 2007; 35: 5995-6003.
  • 2005年
    1. Shen XM, Ohno K, Sine SM, Engel AG. Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker. Brain, 2005; 128: 345-355.
    2. Ohno K, Tsujino A, Shen XM, Milone M, Engel AG. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J Med Genet, 2005; 42: e53.
    3. Ohno K, Engel AG. Splicing abnormalities in congenital myasthenic syndromes. Acta Myol, 2005; 24: 50-54.
  • 2004年
    1. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain, 2004; 127: 439-451.
    2. Sahashi K, Ibi T, Ohno K, Sahashi K, Nakao N, Kondo H. Progressive myopathy with circulating autoantibody against giantin in the Golgi apparatus. Neurology, 2004; 62: 1891-1893.
    3. Ohno K, Engel AG. Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. J Med Genet, 2004; 41: e8.
    4. Kimbell LM, Ohno K, Engel AG, Rotundo RL. C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse. J Biol Chem, 2004; 279: 10997-11005.
    5. Cai Y, Cronin CN, Engel AG, Ohno K, Hersh LB, Rodgers DW. Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. EMBO J, 2004; 23: 2047-2058.
    6. Banwell BL, Ohno K, Sieb JP, Engel AG. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord, 2004; 14: 202-207.
    7. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes (Chapter 66). In: Myology, edited by AG Engel, C Franzini-Armstrong. pp. 1801-1844, 2004, McGraw Hill, New York.
    8. Sine SM, Engel AG, Wang H-L, Ohno K. Molecular Insights into Acetylcholine Receptor Structure and Function Revealed by Mutations Causing Congenital Myasthenic Syndromes. In: Molecular and Cellular Insights into Ion Channel Biology, edited by RA Maue. pp. 95-119, 2004, Elsevier Science, Amsterdam.
  • 2003年
    1. Ohno K, Milone M, Shen XM, Engel AG. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet, 2003; 12: 3055-3066.
    2. Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet, 2003; 12: 739-748.
    3. Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A, 2003; 100: 7377-7382.
    4. Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest, 2003; 111: 497-505.
    5. Engel AG, Ohno K, Harper CM. Congenital myasthenic syndromes. In: Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach, edited by HR Jones, C De Vivo D, BT Darras. pp. 555-574, 2003, Butterworth and Heinemann, Boston.
    6. Sine SM, Wang HL, Ohno K, Shen XM, Lee WY, Engel AG. Mechanistic diversity underlying fast channel congenital myasthenic syndromes. Ann N Y Acad Sci, 2003; 998: 128-137.
    7. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: A diverse array of molecular targets. J Neurocytol, 2003; 32: 1017-1037.
    8. Engel AG, Ohno K, Sine SM. Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci, 2003; 4: 339-352.
    9. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve, 2003; 27: 4-25.
    10. Engel AG, Ohno K, Shen XM, Sine SM. Congenital myasthenic syndromes: Multiple molecular targets at the neuromuscular junction. Myasthenia Gravis and Related Disorders, 2003; 998: 138-160.
  • 2002年
    1. Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology, 2002; 59: 1881-1888.
    2. Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology, 2002; 58: 603-609.
    3. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet, 2002; 70: 875-885.
    4. Sine SM, Shen XM, Wang HL, Ohno K, Lee WY, Tsujino A, Brengmann J, Bren N, Vajsar J, Engel AG. Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating. J Gen Physiol, 2002; 120: 483-496.
    5. Byring RF, Pihko H, Tsujino A, Shen XM, Gustafsson B, Hackman P, Ohno K, Engel AG, Udd B. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul Disord, 2002; 12: 548-553.
    6. Engel AG, Ohno K. Congenital myasthenic syndromes (Chapter 13). In: Adv Neurol, edited by R Pourmand, Y Harati. pp. 203-215, 2002, Lippincott Williams & Wilkins, Philadelphia.
    7. Engel AG, Ohno K, Selcen D. Congenital Myasthenic Syndromes. In: Structural and Molecular Basis of Skeletal Muscle Diseases, edited by G Karpati. pp. 170-179, 2002, International Society of Neuropathology/World Federation of Neurology. ISN Neuropath Press, Basel.
    8. Ohno K, Engel AG. Congenital myasthenic syndromes: genetic defects of the neuromuscular junction. Curr Neurol Neurosci Rep, 2002; 2: 78-88.
    9. Engel AG, Ohno K, Sine SM. The spectrum of congenital myasthenic syndromes. Mol Neurobiol, 2002; 26: 347-367.
  • 2001年
    1. Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T, Sahashi K. Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. J Med Genet, 2001; 38: 703-705.
    2. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A, 2001; 98: 2017-2022.
    3. Engel AG, Ohno K, Sine SM. Acetylcholine receptor channelopathies and other congenital myasthenic syndromes (Chapter 12). In: Channelopathies of the nervous system, edited by MR Rose, RC Griggs. pp. 179-191, 2001, Butterworth and Heinemann, Boston.
  • 2000年
    1. Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol, 2000; 47: 162-170.
    2. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol, 2000; 116: 449-462.
    3. Engel AG, Ohno K, Stans AA. Congenital myasthenic syndromes. In: Neuromuscular Diseases: From Basic Mechanisms To Clinical Management, edited by F Demeer. pp. 96-112, 2000, Karger, Basel.
    4. Engel AG, Ohno K, Shen XM, Milone M, Tsujino A. Congenital myasthenic syndromes in the molecular era. Acta Myol, 2000; 19: 5-21.
  • 1999年
    1. Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroglu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. Neurology, 1999; 53: 1076-1082.
    2. Ohno K, Brengman JM, Felice KJ, Cornblath DR, Engel AG. Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet, 1999; 65: 635-644.
    3. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci, 1999; 2: 226-233.
    4. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest, 1999; 104: 1403-1410.
    5. Ohno K, Anlar B, Engel AG. Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. Neuromuscul Disord, 1999; 9: 131-135.
    6. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes (Chapter 11). In: Myasthenia gravis and myasthenic disorders, edited by AG Engel. pp. 251-297, 1999, Oxford University Press, New York.
    7. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: recent advances. Arch Neurol, 1999; 56: 163-167.
  • 1998年
    1. Ohno K, Anlar B, Ozdirim E, Brengman JM, DeBleecker JL, Engel AG. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann Neurol, 1998; 44: 234-241.
    2. Ohno K, Anlar B, Ozdirim E, Brengman JM, Engel AG. Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes. Ann N Y Acad Sci, 1998; 841: 189-194.
    3. Milone M, Ohno K, Fukudome T, Shen XM, Brengman J, Griggs RC, Engel AG. Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. Ann N Y Acad Sci, 1998; 841: 184-188.
    4. Fukudome T, Ohno K, Brengman JM, Engel AG. AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. Ann N Y Acad Sci, 1998; 841: 199-202.
    5. Ohno K, Brengman J, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci U S A, 1998; 95: 9654-9659.
    6. Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron, 1998; 20: 575-588.
    7. Fukudome T, Ohno K, Brengman JM, Engel AG. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Neuroreport, 1998; 9: 1907-1911.
    8. Ohno K, Engel AG. Congenital myasthenic syndromes: gene mutation. Neuromuscular disorders : NMD, 1998; 8: XII-XIII.
    9. Engel AG, Ohno K, Wang HL, Milone M, Sine SM. Molecular basis of congenital myasthenic syndromes: Mutations in the acetylcholine receptor. Neuroscientist, 1998; 4: 185-194.
    10. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: experiments of nature. J Physiol Paris, 1998; 92: 113-117.
    11. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. Ann N Y Acad Sci, 1998; 841: 140-156.
  • 1997年
    1. Wang HL, Auerbach A, Bren N, Ohno K, Engel AG, Sine SM. Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation. J Gen Physiol, 1997; 109: 757-766.
    2. Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci, 1997; 17: 5651-5665.
    3. Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet, 1997; 6: 753-766.
  • 1996年
    1. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes caused by mutations in acetylcholine receptor genes. Neurology, 1997; 48: 28S-35S.
    2. Sawano T, Tanaka M, Ohno K, Yoneda M, Ota Y, Terasaki H, Awaya S, Ozawa T. Mitochondrial DNA mutations associated with the 11778 mutation in Leber's disease. Biochem Mol Biol Int, 1996; 38: 693-700.
    3. Ohno K, Yamamoto M, Engel AG, Harper CM, Roberts LR, Tan GH, Fatourechi V. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ann Neurol, 1996; 39: 761-766.
    4. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol, 1996; 40: 810-817.
    5. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron, 1996; 17: 157-170.
    6. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet, 1996; 5: 1217-1227.
  • 1995年
    1. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A, 1995; 92: 758-762.
    2. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron, 1995; 15: 229-239.
  • 1993年
    1. Sano T, Ban K, Ichiki T, Kobayashi M, Tanaka M, Ohno K, Ozawa T. Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome. Pediatr Res, 1993; 34: 105-110.
    2. Suoh H, Sahashi K, Ibi T, Tashiro M, Tanaka F, Mitsuma T, Ohno K. Progressive external ophthalmoplegia and myositis. Intern Med, 1993; 32: 319-322.
  • 1992年
    1. Sahashi K, Tanaka M, Tashiro M, Ohno K, Ibi T, Takahashi A, Ozawa T. Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy. Gerontology, 1992; 38: 18-29.
  • 1991年
    1. Ohno K, Tanaka M, Sahashi K, Ibi T, Sato W, Yamamoto T, Takahashi A, Ozawa T. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol, 1991; 29: 364-369.
    2. Tanaka M, Ino H, Ohno K, Ohbayashi T, Ikebe S, Sano T, Ichiki T, Kobayashi M, Wada Y, Ozawa T. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun, 1991; 174: 861-868.
    3. Ozawa T, Tanaka M, Ino H, Ohno K, Sano T, Wada Y, Yoneda M, Tanno Y, Miyatake T, Tanaka T, et al. Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem Biophys Res Commun, 1991; 176: 938-946.
    4. Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun, 1991; 177: 518-525.
    5. Ohno K, Tanaka M, Suzuki H, Ohbayashi T, Ikebe S, Ino H, Kumar S, Takahashi A, Ozawa T. Identification of a possible control element, Mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation. Biochem Int, 1991; 24: 263-272.
    6. Ota Y, Tanaka M, Sato W, Ohno K, Yamamoto T, Maehara M, Negoro T, Watanabe K, Awaya S, Ozawa T. Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome. Invest Ophthalmol Vis Sci, 1991; 32: 2667-2675.
    7. Ino H, Tanaka M, Ohno K, Hattori K, Ikebe S, Sano T, Ozawa T, Ichiki T, Kobayashi M, Wada Y. Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy. Lancet, 1991; 337: 234-235.
    8. Ohno K, Tanaka M, Ino H, Suzuki H, Tashiro M, Ibi T, Sahashi K, Takahashi A, Ozawa T. Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome. Biochim Biophys Acta, 1991; 1090: 9-16.
    9. Ozawa T, Tanaka M, Hayakawa M, Sugiyama S, Ino H, Sato W, Ohno K, Ikebe S, Yoneda M. Mitochondrial DNA disease: phylogeny and expression. In: New Era of Bioenergetics, edited by Y Mukohata. pp. 247-272, 1991, Academic Press, Tokyo.
    10. Ozawa T, Tanaka M, Hayakawa M, Sugiyama S, Sato W, Ohno K, Ikebe S, Yoneda M. Mitochondrial DNA mutations: types, mechanism and expression. In: Progress in Neuropathology Vol. 7, Mitochondrial Encephalomyopathies, edited by T Sato. pp. 141-151, 1991, Raven Press, New York.
    11. Ozawa T, Tanaka M, Sato W, Ohno K, Yoneda M. Diseases caused by mitochondrial DNA mutations: types and mechanism. In: Proceedings of the XIth International Congress of Neuropathology. pp. 481-485, 1991, Jpn. Soc. Neuropathol., Tokyo.
    12. Ozawa T, Tanaka M, Sato W, Ohno K, Yoneda M, Yamamoto T. Types and mechanism of mitochondrial DNA mutations in mitochondrial myopathy and related diseases. In: Molecular Basis of Neurological Disorders and their Treatment, edited by JW Gorrod, O Albano, E Ferrari, S Papa. pp. 173-190, 1991, Chapman and Hall, London.
    13. Sahashi K, Ibi T, Ohno K, Tanaka M, Tashiro M, Tsuchiya I, Nakao M, Yuasa K, Mitsuma T, Takahashi A, Ozawa T. Visceral myopathy with external ophthalmoplegia and multiple mitochondrial DNA deletions. In: New Trends in Autonomic Nervous System Research, edited by Mea Yoshikawa. pp. 229-230, 1991, Elsevier Science Publishers, B. V.
    14. Tanaka M, Hattori K, Ito H, Ohbayashi T, Ohno K, Sato W, Sugiyama S, Ozawa T. Mitochondrial DNA mutations in idiopathic cardiomyopathy and in presbycardia. In: Mitochondrial Encephalomyopathies, edited by T Sato. pp. 225-236, 1991, Raven Press, New York.
  • 1990年
    1. Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B, et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun, 1990; 170: 830-836.
    2. Ikebe S, Tanaka M, Ohno K, Sato W, Hattori K, Kondo T, Mizuno Y, Ozawa T. Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence. Biochem Biophys Res Commun, 1990; 170: 1044-1048.
    3. Ozawa T, Tanaka M, Ikebe S, Ohno K, Kondo T, Mizuno Y. Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem Biophys Res Commun, 1990; 172: 483-489.
    4. Sahashi K, Ohno K, Tanaka M, Ibi T, Yamamoto T, Tashiro M, Sato W, Takahashi A, Ozawa T. Cytoplasmic body and mitochondrial DNA deletion. J Neurol Sci, 1990; 99: 291-300.
    5. Tanaka M, Ino H, Ohno K, Hattori K, Sato W, Ozawa T, Tanaka T, Itoyama S. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet, 1990; 336: 1452.
    6. Ozawa T, Tanaka M, Sato W, Ohno K, Sugiyama S, Yoneda M, Yamamoto T, Hattori K, Ikebe S, Tashiro M, Sahashi K. Mitochondrial DNA mutations as an etiology of human degenerative diseases. In: Bioenergetics: Molecular Biology, Biochemistry, and Pathology, edited by CH Kim, T Ozawa. pp. 413-427, 1990, Plenum, New York and London.
    7. Tanaka M, ., Sato W, Ohno K, Yamamoto T, Ozawa T. S1 nuclease analysis and direct sequencing of deleted mitochondrial DNA in myopathic patients: Role of directly repeated sequences in deletion. In: Bioenergetics: Molecular Biology, Biochemistry, and Pathology, edited by CH Kim, T Ozawa. pp. 441-449, 1990, Plenum, New York.
  • 1989年
    1. Sato W, Tanaka M, Ohno K, Yamamoto T, Takada G, Ozawa T. Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method. Biochem Biophys Res Commun, 1989; 162: 664-672.
    2. Tanaka M, Sato W, Ohno K, Yamamoto T, Ozawa T. Direct sequencing of deleted mitochondrial DNA in myopathic patients. Biochem Biophys Res Commun, 1989; 164: 156-163.
    3. Tanaka-Yamamoto T, Tanaka M, Ohno K, Sato W, Horai S, Ozawa T. Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease. Biochim Biophys Acta, 1989; 1009: 151-155.
    4. Tanaka M, Yoneda M, Ohno K, Sato W, Yamamoto M, Nonaka I, Horai S, Ozawa T. Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. J Inherit Metab Dis, 1989; 12: 359-362.
  • 1988年
    1. Ozawa T, Yoneda M, Tanaka M, Ohno K, Sato W, Suzuki H, Nishikimi M, Yamamoto M, Nonaka I, Horai S. Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. Biochem Biophys Res Commun, 1988; 154: 1240-1247.

研究キーワード

（いずれ更新していきます）