Matsumoto Ayumi 松本歩

Researcher Number	20458318
Other IDs	https://orcid.org/0000-0002-0394-2541
Affiliation (Current)	2024: 自治医科大学, 医学部, 准教授
Affiliation (based on the past Project Information) *help	2017 – 2023: 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 / 出生前診断 … More / 羊水検査 / X染色体不活化（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 / 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

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
概日リズム関連遺伝子の自閉症、神経発達への影響についてPrincipal Investigator
- Principal Investigator
  
  松本歩
- 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 2022 2021 2020 2019 2018 2017 2016 2015 Other

All Journal Article Presentation

[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 & 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] 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. 田畑秀典

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. 津田英利

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Matsumoto Ayumi 松本 歩

Research Projects

Research Products

Co-Researchers

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

Project Period (FY)

Research Category

Review Section

Research Institution

概日リズム関連遺伝子の自閉症、神経発達への影響についてPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Synapse function and social interaction disfunctionPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Synaptic dysfunction of Autism spectrum disorder relating to the dysfunction of scaffold protein and circadian related genes.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] KBTBD11, encoding a novel PPARγ target gene, is involved in NFATc1 proteolysis by interacting with HSC70 and HSP602022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with <i>ACTA1</i> mutation2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A Case Report2022

Author(s)

Journal Title

DOI

ISSN

Year and Date

Language

Data Source

[Journal Article] Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Two cases of DYNC1H1 mutations with intractable epilepsy2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A case of severe Alexander disease with de novo c. 239T>C, p.(F80S), in GFAP2018

Author(s)

Journal Title

DOI

Data Source

[Journal Article] The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.2018

Author(s)

Journal Title

DOI

Matsumoto Ayumi 松本歩