Tsutsumi Makiko

Research field (3)： Genetics , Molecular biology , Medical biochemistry

Research theme for competitive and other funds (3)：

2015 - 2017 Meiotic regulation and its epigenetic analyses of male-female differences using model mice carrying a balanced reciprocal translocation
2013 - 2014 Mechanism of the age-related increase of the chromosomal segregation errors during oogenesis in humans
2010 - 2011 Analysis of the distribution of cohesin in human oocytes to figure out the mechanism of age-related increase of chromosomal nondisjunction.

Papers (67)：

Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. JIMD reports. 2022. 63. 6. 575-580
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, et al. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021. 144. 5. 1451-1466
Makiko Tsutsumi, Hiroki Miura, Hidehito Inagaki, Yasuko Shinkai, Asuka Kato, Takema Kato, Susumu Hamada-Tsutsumi, Makito Tanaka, Kazuko Kudo, Tetsushi Yoshikawa, et al. An aggressive systemic mastocytosis preceded by ovarian dysgerminoma. BMC cancer. 2020. 20. 1. 1162-1162
Miki Kawai, Takema Kato, Makiko Tsutsumi, Yasuko Shinkai, Hidehito Inagaki, Hiroki Kurahashi. Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti. Molecular genetics & genomic medicine. 2020. 8. 12. e1531
Rie Kawamura, Takema Kato, Shunsuke Miyai, Fumihiko Suzuki, Yuki Naru, Maki Kato, Keiko Tanaka, Miwako Nagasaka, Makiko Tsutsumi, Hidehito Inagaki, et al. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia. Journal of human genetics. 2020. 65. 8. 705-709

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MISC (13)：

池田真理子, 池田真理子, 堤真紀子, 内野俊平, 森岡一朗, 河合美紀, 加藤武馬, ENKHJARGAL Sarantuya, 稲垣秀人, 飯島一誠, et al. Severe mitochondrial neurogastrointestinal encephalomyopathy caused by DNA ligase enzyme deficiency. 日本人類遺伝学会大会プログラム・抄録集. 2019. 64th
戸松瑛介, 加藤武馬, 富家由美, 植田佐保子, 垣田彩子, 高柳武志, 四馬田恵, 牧野真樹, 新海保子, 堤真紀子, et al. CDC73遺伝子の部分欠失を認めた副甲状腺癌の一例. 日本内分泌学会雑誌. 2018. 94. 1. 362-362
稲垣秀人, 杉本賢政, 堤真紀子, 井上義一, 田口佳広, 帽田仁子, 宮田昌史, 奥本隆行, 吉川哲史, 倉橋浩樹. 細胞培養モデルが明らかにしたX連鎖の疾患での女性重症化. 生命科学系学会合同年次大会. 2017. 2017年度. [2PT26-06(3P
加藤麻希, 中島葉子, 稲垣秀人, 堤真紀子, 大江瑞恵, 佐藤労, 伊藤哲哉, 倉橋浩樹. 全エクソーム解析からミトコンドリアHMG-CoA合成酵素欠損症が判明した遺伝カウンセリング外来の1例. 日本先天代謝異常学会雑誌. 2016. 32. 146-146
加藤武馬, 稲垣秀人, 堤真紀子, 倉橋浩樹. 染色体異常の発生機序. 小児内科. 2015. 47. 10

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Professional career (1)：

Association Membership(s) (2)：

THE JAPAN SOCIETY OF HUMAN GENETICS , 日本分子生物学会

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