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Matsumoto Ayumi  松本 歩

… Alternative Names

松本 歩  マツモト アユミ

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Researcher Number 20458318
Other IDs
  • ORCIDhttps://orcid.org/0000-0002-0394-2541
Affiliation (Current) 2025: 自治医科大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help 2023: 自治医科大学, 医学部, 准教授
2017 – 2022: 自治医科大学, 医学部, 講師
2014 – 2015: 自治医科大学, 医学部, 助教
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords
Principal Investigator
発達障害 / 自閉症スペクトラム / 概日リズム異常 / 知的障害 / エクソーム解析 / Timeless / シナプス / 自閉症 / X連鎖潜性遺伝 / X染色体不活化(XCI) … More / 羊水検査 / 出生前診断 / X染色体の不活性 (XCI) / 自閉症スペクトラム障害 / DNM1L / Menkes病 / X染色体不活化 / GAP43 / てんかん / 概日リズム関連遺伝子 / 自閉スペクトラム症 (ASD) / 自閉スペクトラム症 / 概日リズム / 遺伝子 / オキシトシン関連物質 / エクソーム / サーカディアンリズム障害 / サーカディアンリズム異常 Less
  • Research Projects

    (4 results)
  • Research Products

    (29 results)
  • Co-Researchers

    (5 People)
  •  羊水におけるX染色体不活化と不活化に関わる因子の解明Principal Investigator

    • Principal Investigator
      松本 歩
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Jichi Medical University
  •  The effect of circadian genes to Autism and neuron developmentPrincipal Investigator

    • Principal Investigator
      MATSUMOTO Ayumi
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Jichi Medical University
  •  Synapse function and social interaction disfunctionPrincipal Investigator

    • Principal Investigator
      Matsumoto Ayumi
    • Project Period (FY)
      2017 – 2020
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University
  •  Synaptic dysfunction of Autism spectrum disorder relating to the dysfunction of scaffold protein and circadian related genes.Principal Investigator

    • Principal Investigator
      Matsumoto Ayumi
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Research Field
      Pediatrics
    • Research Institution
      Jichi Medical University

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 Other

All Journal Article Presentation

  • [Journal Article] Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant2024

    • Author(s)
      Matsumoto Ayumi、Kano Shintaro、Kobayashi Natsumi、Matsuki Mitsuru、Furukawa Rieko、Yamagishi Hirokazu、Yoshinari Hiroki、Nakata Waka、Wakabayashi Hiroko、Tsuda Hidetoshi、Watanabe Kazuhisa、Takahashi Hironori、Yamagata Takanori、Matsumura Takayoshi、Osaka Hitoshi、Mori Harushi、Iwamoto Sadahiko
    • Journal Title

      Scientific Reports

      Volume: 14 Issue: 1 Pages: 440-440

    • DOI

      10.1038/s41598-023-50668-2

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-23K07301, KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08678
  • [Journal Article] Investigation of the efficacy and adverse effects of lacosamide over 36?months2023

    • Author(s)
      Wakabayashi Kei、Osaka Hitoshi、Yamagishi Hirokazu、Kuwajima Mari、Ikeda Takahiro、Matsumoto Ayumi、Muramatsu Kazuhiro、Yamagata Takanori
    • Journal Title

      Epilepsy & Behavior

      Volume: 144 Pages: 109227-109227

    • DOI

      10.1016/j.yebeh.2023.109227

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-20K08265
  • [Journal Article] Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling.2023

    • Author(s)
      Yoshida K, Yokota K, Watanabe K, Tsuda H, Matsumoto A, Mizukami H, Iwamoto S.
    • Journal Title

      Sci Rep

      Volume: 13 Issue: 1 Pages: 1843-1843

    • DOI

      10.1038/s41598-023-29135-5

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08869, KAKENHI-PROJECT-20K08914, KAKENHI-PROJECT-23K07254, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08678
  • [Journal Article] KBTBD11, encoding a novel PPARγ target gene, is involved in NFATc1 proteolysis by interacting with HSC70 and HSP602022

    • Author(s)
      Watanabe Kazuhisa、Matsumoto Ayumi、Tsuda Hidetoshi、Iwamoto Sadahiko
    • Journal Title

      Scientific Reports

      Volume: 12 Issue: 1 Pages: 20273-20273

    • DOI

      10.1038/s41598-022-24929-5

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08869, KAKENHI-PROJECT-20K08914
  • [Journal Article] A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with <i>ACTA1</i> mutation2022

    • Author(s)
      Matsumoto Ayumi、Tsuda Hidetoshi、Furui Sadahiro、Kawada‐Nagashima Masako、Anzai Tatsuya、Seki Mitsuru、Watanabe Kazuhisa、Muramatsu Kazuhiro、Osaka Hitoshi、Iwamoto Sadahiko、Nishino Ichizo、Yamagata Takanori
    • Journal Title

      Molecular Genetics &amp; Genomic Medicine

      Volume: 10 Issue: 9

    • DOI

      10.1002/mgg3.2008

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08869, KAKENHI-PROJECT-20K08914
  • [Journal Article] A Case Report2022

    • Author(s)
      Yamane Hiroaki、Seki Mitsuru、Ikeda Takahiro、Matsumoto Ayumi、Furui Sadahiro、Sato Tomoyuki、Muramatsu Kazuhiro、Tajima Toshihiro、Yamagata Takanori
    • Journal Title

      Int. Heart J.

      Volume: 63 Issue: 3 Pages: 627-632

    • DOI

      10.1536/ihj.21-722

    • ISSN
      1349-2365, 1349-3299
    • Year and Date
      2022-05-30
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08265
  • [Journal Article] Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population2022

    • Author(s)
      Kutsuwada Y., Yokota K., Yoshida K., Tsuda H., Watanabe K., Matsumoto A., Iwamoto S
    • Journal Title

      J Dertmatol Sci

      Volume: 105 Issue: 2 Pages: 98-104

    • DOI

      10.1016/j.jdermsci.2022.01.003

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K08678, KAKENHI-PROJECT-20K08869, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08914
  • [Journal Article] Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report2021

    • Author(s)
      Miyana, Kaori Hayakawa, Itaru Muromoto, Jin Ayumi, Matsumoto Muramatsu, Kazuhiro Kubota, Masaya
    • Journal Title

      Journal of Fetal Medicine

      Volume: 8 Issue: 02 Pages: 151-155

    • DOI

      10.1007/s40556-021-00304-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K08265
  • [Journal Article] Two cases of DYNC1H1 mutations with intractable epilepsy2021

    • Author(s)
      Matsumoto Ayumi、Kojima Karin、Miya Fuyuki、Miyauchi Akihiko、Watanabe Kazuhisa、Iwamoto Sadahiko、Kawai Kensuke、Kato Mitsuhiro、Takahashi Yukitoshi、Yamagata Takanori
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 8 Pages: 857-862

    • DOI

      10.1016/j.braindev.2021.05.005

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08914
  • [Journal Article] Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus2020

    • Author(s)
      Yoshida Ken、Yokota Kazuha、Kutsuwada Yukinobu、Nakayama Kazuhiro、Watanabe Kazuhisa、Matsumoto Ayumi、Miyashita Hiroshi、Khor Seik‐soon、Tokunaga Katsushi、Kawai Yosuke、Nagasaki Masao、Iwamoto Sadahiko
    • Journal Title

      Hepatology Communications

      Volume: 4 Issue: 8 Pages: 1124-1135

    • DOI

      10.1002/hep4.1529

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K08265, KAKENHI-PROJECT-20K08869, KAKENHI-PROJECT-20K08914, KAKENHI-PUBLICLY-19H05342, KAKENHI-PROJECT-17H01453, KAKENHI-PROJECT-17K16279, KAKENHI-PUBLICLY-20H05128
  • [Journal Article] Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation2019

    • Author(s)
      Matsumoto Ayumi、Nagashima Masako、Iwama Kazuhiro、Mizuguchi Takeshi、Makino Shinji、Ikeda Takahiro、Muramatsu Kazuhiro、Matsumoto Naomichi、Yamagata Takanori、Osaka Hitoshi
    • Journal Title

      Brain and Development

      Volume: 印刷中 Issue: 8 Pages: 726-730

    • DOI

      10.1016/j.braindev.2019.04.009

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K09995, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17K16279
  • [Journal Article] A case of severe Alexander disease with de novo c. 239T>C, p.(F80S), in GFAP2018

    • Author(s)
      Matsumoto, A. Tulyeu, J. Furukawa, R. Watanabe, C. Monden, Y. Nozaki, Y. Mori, M. Namekawa, M. Jimbo, E. F. Aihara, T. Yamagata, T. Osaka, H.
    • Journal Title

      Brain and Development

      Volume: ー Issue: 7 Pages: 587-591

    • DOI

      10.1016/j.braindev.2018.03.002

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Journal Article] The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.2018

    • Author(s)
      Matsumoto, A. Imagawa, E. Miyake, N. Ikeda, T. Kobayashi, M. Goto, M. Matsumoto, N. Yamagata, T. Osaka, H.
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 4 Pages: 325-9

    • DOI

      10.1016/j.braindev.2017.09.002

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K16279, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16K09995
  • [Journal Article] Morphological characterization of Class III phosphoinositide 3-kinase during mouse brain development.2016

    • Author(s)
      Inaguma Y, Ito H, Iwamoto I, Matsumoto A, Yamagata T, Tabata H, Nagata K-I
    • Journal Title

      Med Mol Morphol

      Volume: 49 Issue: 1 Pages: 28-33

    • DOI

      10.1007/s00795-015-0116-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25430046, KAKENHI-PROJECT-15K15399, KAKENHI-PUBLICLY-25123727, KAKENHI-PROJECT-26893252, KAKENHI-PROJECT-16H05363
  • [Journal Article] 6q21-22 deletion syndrome with interrupted aortic arch.2015

    • Author(s)
      Matsumoto A, Nozaki Y, Minami T, Jimbo EF, Shiraishi H, Yamagata T. Human genom variation.
    • Journal Title

      Human genom variation.

      Volume: 2 Issue: 1 Pages: 15015-15015

    • DOI

      10.1038/hgv.2015.15

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26893252
  • [Journal Article] Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients.2015

    • Author(s)
      Yang Z, Matsumoto A, Nakayama K, Jimbo EF, Kojima K, Nagata KI, et al.
    • Journal Title

      Brain Dev.

      Volume: 15 Issue: 1 Pages: 91-9

    • DOI

      10.1016/j.braindev.2015.04.006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26893252, KAKENHI-PROJECT-25461377, KAKENHI-PROJECT-26291096, KAKENHI-PROJECT-24500386, KAKENHI-PROJECT-15K15399
  • [Journal Article] Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.2015

    • Author(s)
      Mizuno M, Matsumoto A, Hamada N, Ito H, Miyauchi A, Jimbo EF, Momoi MY, Tabata H, Yamagata T, Nagata K.
    • Journal Title

      J Neurochem

      Volume: 132 Issue: 1 Pages: 61-69

    • DOI

      10.1111/jnc.12943

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23590124, KAKENHI-PROJECT-24500386, KAKENHI-PUBLICLY-25123727, KAKENHI-PROJECT-25430046, KAKENHI-PROJECT-26893252, KAKENHI-PUBLICLY-25122722, KAKENHI-PROJECT-24590314, KAKENHI-PROJECT-24390271
  • [Presentation] シンポジウム1: マイクロアレイ染色体検査で明らかになる微細欠失構造異常症候群の診療体制を考える S1-032023

    • Author(s)
      松本 歩
    • Organizer
      第65回小児神経学術集会
    • Data Source
      KAKENHI-PROJECT-23K07254
  • [Presentation] シンポジウム1: マイクロアレイ染色体検査で明らかになる微細欠失構造異常症候群の診療体制を考える S1-032023

    • Author(s)
      松本 歩
    • Organizer
      第65回小児神経学術集会
    • Data Source
      KAKENHI-PROJECT-20K08265
  • [Presentation] 難治性てんかん、光、音過敏を呈したDNM1L変異の1歳男児例.2022

    • Author(s)
      松本 歩, 津田 英利, 池田 尚広, 宮内 彰彦, 橋口 万里奈, 門田 行史, 轡田 行信, 渡邊 和寿, 村松 一洋, 小坂 仁, 岩本 禎彦, 山形 崇倫
    • Organizer
      日本人類遺伝学会第65回大会
    • Data Source
      KAKENHI-PROJECT-20K08265
  • [Presentation] A case of fiber type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation2021

    • Author(s)
      Matsumoto Ayumi, Tsuda Hidetoshi, Furui Sadahiro, Kawada Masako, Anzai Tatsuya, Seki Mitsuru, Watanabe Kazuhisa, Nishino Ichizo, Osaka Hitoshi, Iwamoto Sadahiko, Yamagata Takanori
    • Organizer
      人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-20K08265
  • [Presentation] 低緊張と知的障害のFER1L6の変異例2019

    • Author(s)
      松本歩、長尾恭光、神保恵理子、才津浩智、小坂仁、岩本禎彦、山形崇倫、
    • Organizer
      人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Presentation] 自閉性障害の概日リズム異常と病因遺伝子解析2018

    • Author(s)
      松本歩、後藤昌英、宮内彰彦、神保恵理子、岩本禎彦、永田浩一、山形崇倫
    • Organizer
      日本人類遺伝学会、第63回大会
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Presentation] 急速に歩行障害が進行したCLN6変異を有する神経セロイドリポフスチン症の5歳男児例2018

    • Author(s)
      松本 歩、小坂 仁、長嶋雅子、岩間一浩、水口剛、池田尚広、村松一洋、松本直道、山形崇倫
    • Organizer
      第60回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Presentation] Acquired ventriculomegaly in a case with SOX 9 mutation2017

    • Author(s)
      A. Matsumoto, E. Imagawa, N. Miyake, N. Ikeda, M Kobashi, M. Goto, T. Yamagata, N. Matsumoto, H. Osaka
    • Organizer
      American society of human genetics 67th annual meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Presentation] 大頭症と知的障害のPTEN変異を有する5歳男児例2017

    • Author(s)
      松本歩, 小坂仁, 今川英里, 三宅紀子, 松本直道, 山形 崇倫
    • Organizer
      第58回日本小児神経学会
    • Data Source
      KAKENHI-PROJECT-17K16279
  • [Presentation] TIMELESS mutation in a patient with autism spectrum disorder (ASD) and circadian rhythm disorder.2015

    • Author(s)
      松本 歩、楊 志亮、中野 裕子、中山 一大、神保 恵理子、岩本 禎彦、永田浩一、山形 崇倫
    • Organizer
      小児神経学会
    • Place of Presentation
      大阪
    • Year and Date
      2015-05-27
    • Data Source
      KAKENHI-PROJECT-26893252
  • [Presentation] Genetic analysis for circadian rhythm abnormality in autism spectrum disorder2015

    • Author(s)
      Ayumi Matsumoto, Yutaka Inaguma, Zhiliang Yang,Yuko Nakano, Masahide Goto, Kazuhiro Nakayama, Eriko F. Jimbo, Hitoshi Osaka, Sadahiko Iwamoto, Koichi Nagata, Takanori Yamagata
    • Organizer
      American society of human genetics 65th annual meeting
    • Place of Presentation
      Baltimore, USA
    • Year and Date
      2015-10-06
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26893252
  • [Presentation] TIMELESS mutation in a patient with autism spectrum disorder (ASD) and circadian rhythm disorder.

    • Author(s)
      松本 歩、楊  志亮、中野 裕子、中山 一大、神保 恵理子、岩本 禎彦、永田浩一、山形 崇倫
    • Organizer
      第57回日本小児神経学会
    • Place of Presentation
      大阪
    • Year and Date
      2015-05-27 – 2015-05-30
    • Data Source
      KAKENHI-PROJECT-26893252
  • 1.  山形 崇倫
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 2.  伊東 秀記
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 3.  岩本 禎彦
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 4.  田畑 秀典
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 5.  津田 英利
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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