Tohoku University Tohoku Medical Megabank Organization (Sakae Saito)
2022.08.12

1.   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  
2.   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  
3.   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  
4.   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  
5.   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  
6.   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  
7.   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  
8.   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  
9.   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  
10.   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  
11.   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  
12.   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  
13.   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  
14.   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  
15.   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  
16.   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  
17.   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  
18.   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  
19.   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  
20.   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  
21.   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  
22.   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  
23.   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  
24.   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  
25.   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  
26.   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  
27.   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  
28.   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  
29.   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  
30.   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