Tohoku University Tohoku Medical Megabank Organization (Naoko Minegishi)
2020.09.30

1.   Nakamura Ryoichi, Misawa Kazuharu, Tohnai Genki, et al. A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. Communications Biology. 2020; 3 (1): 526. doi:10.1038/s42003-020-01251-2  
2.   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  
3.   Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study profile of The Tohoku Medical Megabank Community-Based Cohort Study. Journal of Epidemiology. 2020; : . doi:10.2188/jea.JE20190271  
4.   Kakuta Yoichi, Izumiyama Yasuhiro, Okamoto Daisuke, et al. High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype. Journal of Gastroenterology. 2020; 55 (1): 67-77. doi:10.1007/s00535-019-01638-x  
5.   Kakuta Yoichi, Izumiyama Yasuhiro, Okamoto Daisuke, et al. High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype. Journal of Gastroenterology. 2020; 55 (1): 67-77. doi:10.1007/s00535-019-01638-x  
6.   Ishigaki Kazuyoshi, Akiyama Masato, Kanai Masahiro, et al. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nature Genetics. 2020; 52 (7): 669-679. doi:10.1038/s41588-020-0640-3  
7.   Tsuboi Akito, Matsui Hiroyuki, Shiraishi Naru, et al. Design and Progress of Oral Health Examinations in the Tohoku Medical Megabank Project. The Tohoku Journal of Experimental Medicine. 2020; 251 (2): 97-115. doi:10.1620/tjem.251.97  
8.   Takahashi Yuta, Ueki Masao, Tamiya Gen, et al. Machine learning for effectively avoiding overfitting is a crucial strategy for the genetic prediction of polygenic psychiatric phenotypes. Translational Psychiatry. 2020; 10 (1): 294. doi:10.1038/s41398-020-00957-5  
9.   Sakurai-Yageta Mika, Kawame Hiroshi, Kuriyama Shinichi, et al. A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization. BMC Medical Education. 2019; 19 (1): 297. doi:10.1186/s12909-019-1725-5  
10.   Sugawara Junichi, Ochi Daisuke, Yamashita Riu, et al. Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy. BMJ Open. 2019; 9 (2): e025939. doi:10.1136/bmjopen-2018-025939  
11.   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  
12.   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  
13.   Shido Kosuke, Kojima Kaname, Yamasaki Kenshi, et al. Susceptibility Loci for Tanning Ability in the Japanese Population Identified by a Genome-Wide Association Study from the Tohoku Medical Megabank Project Cohort Study. Journal of Investigative Dermatology. 2019; 139 (7): 1605-1608.e13. doi:10.1016/j.jid.2019.01.015  
14.   Takata Ryo, Takahashi Atsushi, Fujita Masashi, et al. 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. Nature Communications. 2019; 10 (1): 4422. doi:10.1038/s41467-019-12267-6  
15.   Akiyama Masato, Ishigaki Kazuyoshi, Sakaue Saori, et al. Characterizing rare and low-frequency height-associated variants in the Japanese population. Nature Communications. 2019; 10 (1): 4393. doi:10.1038/s41467-019-12276-5  
16.   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  
17.   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  
18.   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  
19.   Minegishi Naoko, Nishijima Ichiko, Nobukuni Takahiro, et al. Biobank Establishment and Sample Management in the Tohoku Medical Megabank Project. The Tohoku Journal of Experimental Medicine. 2019; 248 (1): 45-55. doi:10.1620/tjem.248.45  
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.   Kabe Yasuaki, Suematsu Makoto, Sakamoto Satoshi, et al. Development of a Highly Sensitive Device for Counting the Number of Disease-Specific Exosomes in Human Sera. Clinical Chemistry. 2018; 64 (10): 1463-1473. doi:10.1373/clinchem.2018.291963  
22.   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  
23.   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  
24.   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  
25.   Takai-Igarashi Takako, Kinoshita Kengo, Nagasaki Masao, et al. Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design. BMC Medical Informatics and Decision Making. 2017; 17 (1): 100. doi:10.1186/s12911-017-0494-5  
26.   Shido K., Kojima K., Hozawa A., et al. 503 Genome-wide association study identifies novel susceptibility loci for tanning ability in Japanese population. Journal of Investigative Dermatology. 2017; 137 (5): S86. doi:10.1016/j.jid.2017.02.523  
27.   Hirano Ikuo, Suzuki Norio, Yamazaki Shun, et al. Renal Anemia Model Mouse Established by Transgenic Rescue with an Erythropoietin Gene Lacking Kidney-Specific Regulatory Elements. Molecular and Cellular Biology. 2017; 37 (4): MCB.00451-16. doi:10.1128/MCB.00451-16  
28.   Akiyama Masato, Okada Yukinori, Kanai Masahiro, et al. Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. Nature Genetics. 2017; 49 (10): 1458-1467. doi:10.1038/ng.3951  
29.   Hachiya Tsuyoshi, Kamatani Yoichiro, Takahashi Atsushi, et al. Genetic Predisposition to Ischemic Stroke. Stroke. 2017; 48 (2): 253-258. doi:10.1161/STROKEAHA.116.014506  
30.   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  
31.   Shiwa Yuh, Hachiya Tsuyoshi, Furukawa Ryohei, et al. Adjustment of Cell-Type Composition Minimizes Systematic Bias in Blood DNA Methylation Profiles Derived by DNA Collection Protocols. PLOS ONE. 2016; 11 (1): e0147519. doi:10.1371/journal.pone.0147519  
32.   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  
33.   Nakajima Tomomi, Kitagawa Kyoko, Ohhata Tatsuya, et al. Regulation of GATA-binding Protein 2 Levels via Ubiquitin-dependent Degradation by Fbw7. Journal of Biological Chemistry. 2015; 290 (16): 10368-10381. doi:10.1074/jbc.M114.613018  
34.   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  
35.   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  
36.   Kon Shunsuke, Minegishi Naoko, Tanabe Kenji, et al. Smap1 deficiency perturbs receptor trafficking and predisposes mice to myelodysplasia. Journal of Clinical Investigation. 2013; 123 (3): 1123-1137. doi:10.1172/JCI63711  
37.   Souma T., Yamazaki S., Moriguchi T., et al. Plasticity of Renal Erythropoietin-Producing Cells Governs Fibrosis. Journal of the American Society of Nephrology. 2013; 24 (10): 1599-1616. doi:10.1681/ASN.2013010030  
38.   Yamazaki Shun, Souma Tomokazu, Hirano Ikuo, et al. A mouse model of adult-onset anaemia due to erythropoietin deficiency. Nature Communications. 2013; 4 (1): 1950. doi:10.1038/ncomms2950  
39.   Suzuki Norio, Hirano Ikuo, Pan Xiaoqing, et al. Erythropoietin production in neuroepithelial and neural crest cells during primitive erythropoiesis. Nature Communications. 2013; 4 (1): 2902. doi:10.1038/ncomms3902