Tohoku University Tohoku Medical Megabank Organization (Jun Yasuda)
2024.04.26

1.   Taira Makiko, Mugikura Shunji, Mori Naoko, et al. Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study: Rationale, Design, and Background. JMA Journal. 2023; 6 (3): 246-264. doi:10.31662/jmaj.2022-0220  
2.   Shindo Norihisa, Kumada Kazuki, Iemura Kenji, et al. Autocleavage of separase suppresses its premature activation by promoting binding to cyclin B1. Cell Reports. 2022; 41 (9): 111723. doi:10.1016/j.celrep.2022.111723  
3.   Shiga Naomi, Yamaguchi-Kabata Yumi, Igeta Saori, et al. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. Human Genome Variation. 2022; 9 (1): 34. doi:10.1038/s41439-022-00213-w  
4.   Kawame Hiroshi, Fukushima Akimune, Fuse Nobuo, et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. Journal of Human Genetics. 2022; 67 (1): 9-17. doi:10.1038/s10038-021-00952-8  
5.   Ito Shin, Hashimoto Aya, Yamaguchi Kazunori, et al. A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex. Molecular Genetics & Genomic Medicine. 2022; 10 (3): . doi:10.1002/mgg3.1884  
6.   Uchida Yasuo, Higuchi Tomoya, Shirota Matsuyuki, et al. Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia. Biological and Pharmaceutical Bulletin. 2021; 44 (6): 804-815. doi:10.1248/bpb.b20-01043  
7.   Kanazawa Kosuke, Kishimoto Kazuhiro, Nomura Miyuki, et al. Ppp6c haploinsufficiency accelerates UV‐induced BRAF(V600E)‐initiated melanomagenesis. Cancer Science. 2021; 112 (6): 2233-2244. doi:10.1111/cas.14895  
8.   Nagaoka Shinichi, Yamaguchi-Kabata Yumi, Shiga Naomi, et al. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. Human Genome Variation. 2021; 8 (1): 2. doi:10.1038/s41439-020-00133-7  
9.   Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study profile of the tohoku medical megabank community-based cohort study. Journal of Epidemiology. 2021; 31 (1): 65-76. doi:10.2188/jea.JE20190271  
10.   Yajima Misako, Kakuta Risako, Saito Yutaro, et al. A global phylogenetic analysis of Japanese tonsil-derived Epstein–Barr virus strains using viral whole-genome cloning and long-read sequencing. Journal of General Virology. 2021; 102 (3): . doi:10.1099/jgv.0.001549  
11.   Takayama Jun, Tadaka Shu, Yano Kenji, et al. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference. Nature Communications. 2021; 12 (1): 226. doi:10.1038/s41467-020-20146-8  
12.   Tokunaga Hideki, Iida Keita, Hozawa Atsushi, et al. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PLOS ONE. 2021; 16 (1): e0236907. doi:10.1371/journal.pone.0236907  
13.   Sakurai-Yageta Mika, Kumada Kazuki, Gocho Chinatsu, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021; 170 (3): 399-410. doi:10.1093/jb/mvab060  
14.   Hishinuma Eiji, Shimada Muneaki, Matsukawa Naomi, et al. Wide-Targeted Metabolome Analysis Identifies Potential Biomarkers for Prognosis Prediction of Epithelial Ovarian Cancer. Toxins. 2021; 13 (7): 461. doi:10.3390/toxins13070461  
15.   Shibayama Yuki, Takahashi Kazuo, Yamaguchi Hisateru, et al. Aberrant (pro)renin receptor expression induces genomic instability in pancreatic ductal adenocarcinoma through upregulation of SMARCA5/SNF2H. Communications Biology. 2020; 3 (1): 724. doi:10.1038/s42003-020-01434-x  
16.   Kuriyama Shinichi, Metoki Hirohito, Kikuya Masahiro, et al. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International Journal of Epidemiology. 2020; 49 (1): 18-19m. doi:10.1093/ije/dyz169  
17.   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  
18.   Shirota Matsuyuki, Saigusa Daisuke, Yamashita Riu, et al. Longitudinal plasma amino acid profiling with maternal genomic background throughout human pregnancy. Medical Mass Spectrometry. 2020; 4 (1): 36-49. doi:10.24508/mms.2020.06.001  
19.   Takahashi Yuta, Takeuchi Hikaru, Sakai Mai, et al. A single nucleotide polymorphism (−250 A/C) of the GFAP gene is associated with brain structures and cerebral blood flow. Psychiatry and Clinical Neurosciences. 2020; 74 (1): 49-55. doi:10.1111/pcn.12932  
20.   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  
21.   Mori Minako, Hira Asuka, Yoshida Kenichi, et al. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019; 104 (10): 1962-1973. doi:10.3324/haematol.2018.207241  
22.   Yamaguchi-Kabata Yumi, Yasuda Jun, Uruno Akira, et al. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics. 2019; 138 (4): 389-409. doi:10.1007/s00439-019-01998-7  
23.   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  
24.   Nagasaki Masao, Kuroki Yoko, Shibata Tomoko F., et al. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Human Genome Variation. 2019; 6 (1): 27. doi:10.1038/s41439-019-0057-7  
25.   Kakuta Yoichi, Kawai Yosuke, Naito Takeo, et al. A Genome-wide Association Study Identifying RAP1A as a Novel Susceptibility Gene for Crohn’s Disease in Japanese Individuals. Journal of Crohn's and Colitis. 2019; 13 (5): 648-658. doi:10.1093/ecco-jcc/jjy197  
26.   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  
27.   Amano Yuji, Akazawa Yohei, Yasuda Jun, et al. A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease. Pediatric Rheumatology. 2019; 17 (1): 34. doi:10.1186/s12969-019-0337-2  
28.   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  
29.   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  
30.   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  
31.   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  
32.   Tanikawa Chizu, Kamatani Yoichiro, Takahashi Atsushi, et al. GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12. Carcinogenesis. 2018; 39 (5): 652-660. doi:10.1093/carcin/bgy026  
33.   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  
34.   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  
35.   Koshiba Seizo, Motoike Ikuko, Saigusa Daisuke, et al. Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project. Genes to Cells. 2018; 23 (6): 406-417. doi:10.1111/gtc.12588  
36.   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  
37.   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  
38.   Nishioka Masaki, Bundo Miki, Ueda Junko, et al. Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders. Psychiatry and Clinical Neurosciences. 2018; 72 (4): 280-294. doi:10.1111/pcn.12632  
39.   Sakai Mai, Takeuchi Hikaru, Yu Zhiqian, et al. Polymorphisms in the microglial marker molecule CX3CR1 affect the blood volume of the human brain. Psychiatry and Clinical Neurosciences. 2018; 72 (6): 409-422. doi:10.1111/pcn.12649  
40.   Kumada Kazuki, Yasuda Jun. Evolutionary acquired robustness and vulnerability in cancer genome: negligible negative selection in carcinogenesis. Translational Cancer Research. 2018; 7 (S4): S445-S448. doi:10.21037/tcr.2018.02.15  
41.   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  
42.   Matsuura Kentaro, Sawai Hiromi, Ikeo Kazuho, et al. Genome-Wide Association Study Identifies TLL1 Variant Associated With Development of Hepatocellular Carcinoma After Eradication of Hepatitis C Virus Infection. Gastroenterology. 2017; 152 (6): 1383-1394. doi:10.1053/j.gastro.2017.01.041  
43.   Hamanaka Teruhiko, Kimura Masae, Sakurai Tetsuro, et al. A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients. Investigative Opthalmology & Visual Science. 2017; 58 (5): 2818. doi:10.1167/iovs.16-20646  
44.   Hachiya Tsuyoshi, Furukawa Ryohei, Shiwa Yuh, et al. Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies. npj Genomic Medicine. 2017; 2 (1): 11. doi:10.1038/s41525-017-0016-5  
45.   Shiga Yukihiro, Nishiguchi Koji M., Kawai Yosuke, et al. Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7. PLOS ONE. 2017; 12 (12): e0186678. doi:10.1371/journal.pone.0186678  
46.   Kuriyama Shinichi, Yaegashi Nobuo, Nagami Fuji, et al. The Tohoku Medical Megabank Project: Design and Mission. Journal of Epidemiology. 2016; 26 (9): 493-511. doi:10.2188/jea.JE20150268  
47.   Kohda Masakazu, Tokuzawa Yoshimi, Kishita Yoshihito, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLOS Genetics. 2016; 12 (1): e1005679. doi:10.1371/journal.pgen.1005679  
48.   Saigusa Daisuke, Okamura Yasunobu, Motoike Ikuko N., et al. Establishment of Protocols for Global Metabolomics by LC-MS for Biomarker Discovery. PLOS ONE. 2016; 11 (8): e0160555. doi:10.1371/journal.pone.0160555  
49.   Koshiba Seizo, Motoike Ikuko, Kojima Kaname, et al. The structural origin of metabolic quantitative diversity. Scientific Reports. 2016; 6 (1): 31463. doi:10.1038/srep31463  
50.   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  
51.   Yamaguchi-Kabata Yumi, Nariai Naoki, Kawai Yosuke, et al. iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing. Human Genome Variation. 2015; 2 (1): 15050. doi:10.1038/hgv.2015.50  
52.   Kawai Yosuke, Mimori Takahiro, Kojima Kaname, et al. Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. Journal of Human Genetics. 2015; 60 (10): 581-587. doi:10.1038/jhg.2015.68  
53.   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  
54.   Katsuoka Fumiki, Yokozawa Junji, Tsuda Kaoru, et al. An efficient quantitation method of next-generation sequencing libraries by using MiSeq sequencer. Analytical Biochemistry. 2014; 466 (466C): 27-29. doi:10.1016/j.ab.2014.08.015  
55.   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  
56.   布施 昇男、清水 愛、木村 雅恵、高野 良真、石 棟、宮澤 晃子、国松 志保、劉 孟林、渡邊 亮、安田 正幸、横山 悠、檜森 紀子、津田 聡、山本 耕太郎、中澤 徹、安田 純、勝岡 史城、小島 要、成相 直樹、松本 光代、元池 育子、長崎 正朗、木下 賢吾、五十嵐 和彦、山本 雅之、新堀 哲也、青木 洋子、松原 洋一、舟山 亮、長嶋 剛史、中山 啓子、眞島 行彦、舟山 智代、田中 光一、原田 高幸、阿部 春樹、福地 健郎、安田 典子、出田 秀尚、鄭 暁東、白石 敦、大橋 祐一、石田 誠夫、原 岳、金森 章. 緑内障のゲノム解析―次世代医療•個別化医療に向けて. 日本眼科学会雑誌. 2013; 118 ((3)): 216-240.