Rchr
J-GLOBAL ID：201801018754073092
Update date: Aug. 01, 2024
Makino Satoshi
マキノ サトシ | Makino Satoshi
Affiliation and department：
Homepage URL (2)：
https://www.megabank.tohoku.ac.jp/tommo/member/member05
,
https://www.megabank.tohoku.ac.jp/english/about/member/department04/#makino
Research field (1)：
Molecular biology
Research theme for competitive and other funds (5)：
- 2018 - 2021 大規模コホートの調査票における新規データクリーニング手法の開発
- 2015 - 2018 Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in COX6A1
- 2012 - 2015 General transcription factor TAF1 is involved in transcriptional impairment and neurodegeneration
- 2010 - 2011 Neuron-Specific Function of N-TAF1, the disease causative gene of Hereditary Dystonia(DYT3)
- 2008 - 2009 Functional analysis of N-TAF1, the disease causative gene of X-linked recessive dystonia-parkinsonism
Papers (46)：
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Jun Takayama, Satoshi Makino, Takamitsu Funayama, Masao Ueki, Akira Narita, Keiko Murakami, Masatsugu Orui, Mami Ishikuro, Taku Obara, Shinichi Kuriyama, et al. A fine-scale genetic map of the Japanese population. Clinical Genetics. 2024
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Miyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, Chikahiko Numakura, Shu-ichi Matsuzawa, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Satoshi Makino, Gen Tamiya, et al. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct. Journal of Human Genetics. 2022. 67. 7. 393-397
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Soichi Ogishima, Satoshi Nagaie, Satoshi Mizuno, Ryosuke Ishiwata, Keita Iida, Kazuro Shimokawa, Takako Takai-Igarashi, Naoki Nakamura, Sachiko Nagase, Tomohiro Nakamura, et al. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. Human Genome Variation. 2021. 8. 1. 44
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Mika Sakurai-Yageta, Kazuki Kumada, Chinatsu Gocho, Satoshi Makino, Akira Uruno, Shu Tadaka, Ikuko N Motoike, Masae Kimura, Shin Ito, Akihito Otsuki, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021. 170. 3. 399-410
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Tetsuo Mitsui, Satoshi Makino, Gen Tamiya, Hiroko Sato, Yuki Kawakami, Yoshitaka Takahashi, Toru Meguro, Hiroko Izumino, Yosuke Sudo, Ikuo Norota, et al. ALOX12 mutation in a family with dominantly inherited bleeding diathesis. Journal of Human Genetics. 2021
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MISC (2)：
Lectures and oral presentations (1)：
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Deficiency of a Neuron-specific Isoform of the TAF1 Gene Is Associated with X-linked Dystonia-Parkinsonism
(American Society of Human Genetics 2005 Annual Meeting 2005)
Professional career (1)：
Association Membership(s) (1)：
American Society of Human Genetics
