Tohoku University Tohoku Medical Megabank Organization (Masahiro Hiratsuka)
2024.03.29

1.   Shimizu Makiko, Makiguchi Miaki, Hishinuma Eiji, et al. Rare but impaired flavin-containing monooxygenase 3 (FMO3) variants reported in a recently updated Japanese mega-databank of genome resources. Drug Metabolism and Pharmacokinetics. 2024; 55 : 100539. doi:10.1016/j.dmpk.2023.100539  
2.   Hozawa Atsushi, Nakaya Kumi, Nakaya Naoki, et al. Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture. Journal of Epidemiology. 2024; : JE20230241. doi:10.2188/jea.JE20230241  
3.   Tadaka Shu, Kawashima Junko, Hishinuma Eiji, et al. jMorp: Japanese Multi-Omics Reference Panel update report 2023. Nucleic Acids Research. 2024; 52 (D1): D622-D632. doi:10.1093/nar/gkad978  
4.   Kumondai Masaki, Maekawa Masamitsu, Hishinuma Eiji, et al. Development of a Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analytical Method for Urinary Endogenous Substrates and Metabolites for Predicting Cytochrome P450 3A4 Activity. Biological and Pharmaceutical Bulletin. 2023; 46 (3): b22-00840. doi:10.1248/bpb.b22-00840  
5.   Hishinuma Eiji, Narita Yoko, Rico Evelyn Marie Gutiérrez, et al. Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity. Drug Metabolism and Disposition. 2023; 51 (2): 165-173. doi:10.1124/dmd.122.001045  
6.   Sato Yu, Hishinuma Eiji, Yamazaki Shuki, et al. Functional Characterization of 29 Cytochrome P450 4F2 Variants Identified in a Population of 8380 Japanese Subjects and Assessment of Arachidonic Acid ω -Hydroxylation. Drug Metabolism and Disposition. 2023; 51 (12): 1561-1568. doi:10.1124/dmd.123.001389  
7.   Tsukagoshi Eri, Nakamura Ryosuke, Tanaka Yoichi, et al. Validation of a genotyping technique for a surrogate marker of HLA-B58:01 for allopurinol-induced Stevens–Johnson syndrome and toxic epidermal necrolysis in the Japanese population. Drug Metabolism and Pharmacokinetics. 2023; 49 : 100495. doi:10.1016/j.dmpk.2023.100495  
8.   Shimizu Makiko, Hirose Nagisa, Kato Mao, et al. Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria. Drug Metabolism and Pharmacokinetics. 2022; 46 : 100465. doi:10.1016/j.dmpk.2022.100465  
9.   Hishinuma Eiji, Narita Yoko, Obuchi Kai, et al. Importance of Rare DPYD Genetic Polymorphisms for 5-Fluorouracil Therapy in the Japanese Population. Frontiers in Pharmacology. 2022; 13 : . doi:10.3389/fphar.2022.930470  
10.   Ohneda Kinuko, Hiratsuka Masahiro, Kawame Hiroshi, et al. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. JMA Journal. 2022; 5 (2): . doi:10.31662/jmaj.2021-0156  
11.   Ganaha Akira, Hishinuma Eiji, Kaname Tadashi, et al. Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Journal of Clinical Medicine. 2022; 11 (4): 1099. doi:10.3390/jcm11041099  
12.   Kato Koichi, Nakayoshi Tomoki, Nagura Ayuka, et al. Structural investigation of pathogenic variants in dihydropyrimidinase using molecular dynamics simulations. Journal of Molecular Graphics and Modelling. 2022; 117 : 108288. doi:10.1016/j.jmgm.2022.108288  
13.   Siamoglou Stavroula, Koromina Maria, Hishinuma Eiji, et al. Identification and functional validation of novel pharmacogenomic variants using a next-generation sequencing-based approach for clinical pharmacogenomics. Pharmacological Research. 2022; 176 : 106087. doi:10.1016/j.phrs.2022.106087  
14.   Kumondai Masaki, Gutiérrez Rico Evelyn Marie, Hishinuma Eiji, et al. Functional Characterization of 40 CYP3A4 Variants by Assessing Midazolam 1′-Hydroxylation and Testosterone 6 β -Hydroxylation. Drug Metabolism and Disposition. 2021; 49 (3): 212-220. doi:10.1124/dmd.120.000261  
15.   Shimizu Makiko, Koibuchi Natsumi, Mizugaki Ami, et al. Genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects identified by phenotyping for trimethylaminuria and found in a database of genome resources. Drug Metabolism and Pharmacokinetics. 2021; 38 : 100387. doi:10.1016/j.dmpk.2021.100387  
16.   Isaka Yuichi, Nishio Shin-ya, Hishinuma Eiji, et al. Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Genetic Testing and Molecular Biomarkers. 2021; 25 (1): 79-83. doi:10.1089/gtmb.2020.0105  
17.   Kato Koichi, Nakayoshi Tomoki, Nokura Rika, et al. Deciphering Structural Alterations Associated with Activity Reductions of Genetic Polymorphisms in Cytochrome P450 2A6 Using Molecular Dynamics Simulations. International Journal of Molecular Sciences. 2021; 22 (18): 10119. doi:10.3390/ijms221810119  
18.   Fukunaga Koya, Hishinuma Eiji, Hiratsuka Masahiro, et al. Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population. Journal of Human Genetics. 2021; 66 (2): 139-149. doi:10.1038/s10038-020-0815-x  
19.   Kumondai Masaki, Ito Akio, Gutiérrez Rico Evelyn Marie, et al. Functional Assessment of 12 Rare Allelic CYP2C9 Variants Identified in a Population of 4773 Japanese Individuals. Journal of Personalized Medicine. 2021; 11 (2): 94. doi:10.3390/jpm11020094  
20.   Kumondai Masaki, Gutiérrez Rico Evelyn, Hishinuma Eiji, et al. Functional Characterization of 21 Rare Allelic CYP1A2 Variants Identified in a Population of 4773 Japanese Individuals by Assessing Phenacetin O-Deethylation. Journal of Personalized Medicine. 2021; 11 (8): 690. doi:10.3390/jpm11080690  
21.   Hishinuma Eiji, Gutiérrez Rico Evelyn, Hiratsuka Masahiro. In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase. Journal of Clinical Medicine. 2020; 9 (8): 2342. doi:10.3390/jcm9082342  
22.   Kumondai Masaki, Hishinuma Eiji, Gutiérrez Rico Evelyn Marie, et al. Heterologous expression of high-activity cytochrome P450 in mammalian cells. Scientific Reports. 2020; 10 (1): 14193. doi:10.1038/s41598-020-71035-5  
23.   Shimizu Makiko, Yoda Hiromi, Nakakuki Komei, et al. Genetic variants of flavin-containing monooxygenase 3 (FMO3) derived from Japanese subjects with the trimethylaminuria phenotype and whole-genome sequence data from a large Japanese database. Drug Metabolism and Pharmacokinetics. 2019; 34 (5): 334-339. doi:10.1016/j.dmpk.2019.06.001  
24.   Watanabe Takashi, Saito Takahiro, Rico Evelyn Marie Gutiérrez, et al. Functional characterization of 40 CYP2B6 allelic variants by assessing efavirenz 8-hydroxylation. Biochemical Pharmacology. 2018; 156 : 420-430. doi:10.1016/j.bcp.2018.09.010  
25.   Hishinuma Eiji, Narita Yoko, Saito Sakae, et al. Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals. Drug Metabolism and Disposition. 2018; 46 (8): 1083-1090. doi:10.1124/dmd.118.081737  
26.   Kumondai Masaki, Ito Akio, Hishinuma Eiji, et al. Development and application of a rapid and sensitive genotyping method for pharmacogene variants using the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS). Drug Metabolism and Pharmacokinetics. 2018; 33 (6): 258-263. doi:10.1016/j.dmpk.2018.08.003  
27.   Saito Takahiro, Gutiérrez Rico Evelyn Marie, Kikuchi Aoi, et al. Functional characterization of 50 CYP2D6 allelic variants by assessing primaquine 5-hydroxylation. Drug Metabolism and Pharmacokinetics. 2018; 33 (6): 250-257. doi:10.1016/j.dmpk.2018.08.004  
28.   Kumondai Masaki, Hosono Hiroki, Maekawa Masamitsu, et al. Functional characterization of 9 CYP2A13 allelic variants by assessment of nicotine C-oxidation and coumarin 7-hydroxylation. Drug Metabolism and Pharmacokinetics. 2018; 33 (1): 82-89. doi:10.1016/j.dmpk.2017.11.004  
29.   Saito Takahiro, Kikuchi Aoi, Kaneko Akira, et al. Rapid and sensitive multiplex single-tube nested PCR for the identification of five human Plasmodium species. Parasitology International. 2018; 67 (3): 277-283. doi:10.1016/j.parint.2018.01.005  
30.   Hishinuma Eiji, Akai Fumika, Narita Yoko, et al. Functional characterization of 21 allelic variants of dihydropyrimidinase. Biochemical Pharmacology. 2017; 143 : 118-128. doi:10.1016/j.bcp.2017.06.121  
31.   Saito Takahiro, Honda Masashi, Takahashi Masamitsu, et al. Functional characterization of 10 CYP4A11 allelic variants to evaluate the effect of genotype on arachidonic acid ω-hydroxylation. Drug Metabolism and Pharmacokinetics. 2015; 30 (1): 119-122. doi:10.1016/j.dmpk.2014.09.001