Matsumoto Ayumi

マツモトアユミ | Matsumoto Ayumi

Affiliation and department：

Research field (1)： Genetics

Research keywords (2)： pediatric neurology , Human Genetics

Research theme for competitive and other funds (5)：

2023 - 2026 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
2020 - 2023 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
2017 - 2021 Synapse function and social interaction disfunction
2016 - 2019 Genetic analysis for autism spectrum disorder and intellectual disability focusing on synaptic network abnormality
2014 - 2016 Synaptic dysfunction of Autism spectrum disorder relating to the dysfunction of scaffold protein and circadian related genes.

Papers (38)：

Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, et al. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant. Scientific reports. 2024. 14. 1. 440-440
Kei Wakabayashi, Hitoshi Osaka, Hirokazu Yamagishi, Mari Kuwajima, Takahiro Ikeda, Ayumi Matsumoto, Kazuhiro Muramatsu, Takanori Yamagata. Investigation of the efficacy and adverse effects of lacosamide over 36 months. Epilepsy & Behavior. 2023. 144. 109227-109227
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, et al. Molecular diagnosis of 405 individuals with autism spectrum disorder. European journal of human genetics : EJHG. 2023
Ken Yoshida, Kazuha Yokota, Kazuhisa Watanabe, Hidetoshi Tsuda, Ayumi Matsumoto, Hiroaki Mizukami, Sadahiko Iwamoto. Lack of GPR180 ameliorates hepatic lipid depot via downregulation of mTORC1 signaling. Scientific reports. 2023. 13. 1. 1843-1843
Kazuhisa Watanabe, Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiko Iwamoto. KBTBD11, encoding a novel PPARγ target gene, is involved in NFATc1 proteolysis by interacting with HSC70 and HSP60. Scientific reports. 2022. 12. 1. 20273-20273

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MISC (10)：

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, et al. 難治性てんかん,光,音過敏を呈したDNM1L変異の1歳男児例. 日本人類遺伝学会大会プログラム・抄録集. 2022. 67th (CD-ROM)
田中大輔, 池田尚広, 橋口万里奈, 松本歩, 門田行史, 村松一洋, 小坂仁, 山形崇倫. シトリン欠損症合併SCN8A変異例におけるphenytoinの有効性と乳児期早期胆道酵素上昇作用. 脳と発達. 2022. 54. 1
渡邉和寿, 中山一大, 横田万葉, 吉田健, 松本歩, RUDOLPH Leibel, 岩本禎彦. 脂肪肝におけるリン脂質の変化とILDR2の役割. 日本栄養・食糧学会大会講演要旨集. 2020. 74th
渡邉和寿, 中山一大, 吉田健, 横田万葉, 松本歩, RUDOLPH Leibel, 岩本禎彦. 脂肪肝におけるリン脂質の変化とILDR2の役割. 糖尿病(Web). 2019. 62. Suppl
後藤昌英, 松本歩, 小島華林, 神保恵理子, 小坂仁, 大橋圭, 齋藤伸治, 山形崇倫. 自閉スペクトラム症児に対するアレイCGH解析によるMicroRNAの検討. 脳と発達. 2018. 50. Suppl. S329-S329

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Professional career (1)：

医学博士

Association Membership(s) (6)：

遺伝カウンセリング学会 , 日本遺伝子診療学会 , JAPAN EPILEPSY SOCIETY , THE JAPAN SOCIETY OF HUMAN GENETICS , THE JAPANESE SOCIETY OF CHILD NEUROLOGY , JAPAN PEDIATRIC SOCIETY

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