1. |
|
Yamazaki Shuki, Hishinuma Eiji, Suzuki Yuma, et al. Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals. Biochemical Pharmacology. 2024; 229 : 116515. doi:10.1016/j.bcp.2024.116515 |
|
2. |
|
Kudo Hisaaki, Ishida Noriko, Nobukuni Takahiro, et al. Detection and Correction of Sample Misidentifications in a Biobank Using the MassARRAY System and Genomic Information. Biopreservation and Biobanking. 2024; 22 (4): 373-382. doi:10.1089/bio.2022.0211 |
|
3. |
|
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 |
|
4. |
|
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 |
|
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. |
|
Makiguchi Miaki, Shimizu Makiko, Yokota Yuka, et al. Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources. Drug Metabolism and Disposition. 2023; 51 (7): 884-891. doi:10.1124/dmd.123.001310 |
|
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. |
|
Tourlousse Dieter M., Narita Koji, Miura Takamasa, et al. Characterization and Demonstration of Mock Communities as Control Reagents for Accurate Human Microbiome Community Measurements. Microbiology Spectrum. 2022; 10 (2): . doi:10.1128/spectrum.01915-21 |
|
11. |
|
Mizukami Miyako, Ishikawa Aki, Miyazaki Sachiko, et al. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms. Brain and Development. 2021; 43 (4): 563-565. doi:10.1016/j.braindev.2020.12.004 |
|
12. |
|
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 |
|
13. |
|
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 |
|
14. |
|
Miyauchi Kenichiro, Nakai Taku, Saito Sakae, et al. Renal interstitial fibroblasts coproduce erythropoietin and renin under anaemic conditions. EBioMedicine. 2021; 64 : 103209. doi:10.1016/j.ebiom.2021.103209 |
|
15. |
|
Saito Sakae, Aoki Yuichi, Tamahara Toru, et al. Oral Microbiome Analysis in Prospective Genome Cohort Studies of the Tohoku Medical Megabank Project. Frontiers in Cellular and Infection Microbiology. 2021; 10 : . doi:10.3389/fcimb.2020.604596 |
|
16. |
|
Hakamata Mariko, Hokari Satoshi, Ohshima Yasuyoshi, et al. Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome. Internal Medicine. 2021; 60 (12): 1921-1926. doi:10.2169/internalmedicine.5479-20 |
|
17. |
|
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 |
|
18. |
|
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 |
|
19. |
|
Saigusa Daisuke, Motoike Ikuko N., Saito Sakae, et al. Impacts of NRF2 activation in non–small‐cell lung cancer cell lines on extracellular metabolites. Cancer Science. 2020; 111 (2): 667-678. doi:10.1111/cas.14278 |
|
20. |
|
Gutiérrez Rico Evelyn Marie, Kikuchi Aoi, Saito Takahiro, et al. CYP2D6 genotyping analysis and functional characterization of novel allelic variants in a Ni-Vanuatu and Kenyan population by assessing dextromethorphan O-demethylation activity. Drug Metabolism and Pharmacokinetics. 2020; 35 (1): 89-101. doi:10.1016/j.dmpk.2019.07.003 |
|
21. |
|
Yaoita Nobuhiro, Satoh Kimio, Satoh Taijyu, et al. Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension. Journal of the American Heart Association. 2020; 9 (21): . doi:10.1161/JAHA.120.015902 |
|
22. |
|
Nishizawa Ayako, Kumada Kazuki, Tateno Keiko, et al. Analysis of HLA-G long-read genomic sequences in mother–offspring pairs with preeclampsia. Scientific Reports. 2020; 10 (1): 20027. doi:10.1038/s41598-020-77081-3 |
|
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. |
|
Tadaka Shu, Katsuoka Fumiki, Ueki Masao, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. Human Genome Variation. 2019; 6 (1): 28. doi:10.1038/s41439-019-0059-5 |
|
25. |
|
Kiniwa Yukiko, Yasuda Jun, Saito Sakae, et al. Identification of genetic alterations in extramammary Paget disease using whole exome analysis. Journal of Dermatological Science. 2019; 94 (1): 229-235. doi:10.1016/j.jdermsci.2019.03.006 |
|
26. |
|
Yasuda Jun, Kinoshita Kengo, Katsuoka Fumiki, et al. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. The Journal of Biochemistry. 2019; 165 (2): 139-158. doi:10.1093/jb/mvy096 |
|
27. |
|
Mimori Takahiro, Yasuda Jun, Kuroki Yoko, et al. Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing. The Pharmacogenomics Journal. 2019; 19 (2): 136-146. doi:10.1038/s41397-017-0010-4 |
|
28. |
|
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 |
|
29. |
|
Yasuda Jun, Katsuoka Fumiki, Danjoh Inaho, et al. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. BMC Genomics. 2018; 19 (1): 551. doi:10.1186/s12864-018-4942-0 |
|
30. |
|
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 |
|
31. |
|
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 |
|
32. |
|
Shibuya Yusuke, Tokunaga Hideki, Saito Sakae, et al. Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing. Genes, Chromosomes and Cancer. 2018; 57 (2): 51-60. doi:10.1002/gcc.22507 |
|
33. |
|
Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, et al. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. Journal of Human Genetics. 2018; 63 (2): 213-230. doi:10.1038/s10038-017-0347-1 |
|
34. |
|
Suzuki Norio, Matsuo-Tezuka Yukari, Sasaki Yusuke, et al. Iron attenuates erythropoietin production by decreasing hypoxia-inducible transcription factor 2α concentrations in renal interstitial fibroblasts. Kidney International. 2018; 94 (5): 900-911. doi:10.1016/j.kint.2018.06.028 |
|
35. |
|
Pan Xiaoqing, Nariai Naoki, Fukuhara Noriko, et al. Monitoring of minimal residual disease in early T‐cell precursor acute lymphoblastic leukaemia by next‐generation sequencing. British Journal of Haematology. 2017; 176 (2): 318-321. doi:10.1111/bjh.13948 |
|
36. |
|
Nariai Naoki, Kojima Kaname, Saito Sakae, et al. HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. BMC Genomics. 2015; 16 (S2): S7. doi:10.1186/1471-2164-16-S2-S7 |
|
37. |
|
Nagasaki Masao, Yasuda Jun, Katsuoka Fumiki, et al. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nature Communications. 2015; 6 (1): 8018. doi:10.1038/ncomms9018 |
|
38. |
|
Motoike Ikuko N, Matsumoto Mitsuyo, Danjoh Inaho, et al. Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population. BMC Genomics. 2014; 15 (1): 673. doi:10.1186/1471-2164-15-673 |
|