Tohoku University Tohoku Medical Megabank Organization (Masao Nagasaki)
2021.04.08

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4.   Masamune Atsushi, Kotani Hiroshi, Sörgel Franziska Lena, et al. Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis. Gastroenterology. 2020; 158 (6): 1626-1641.e8. doi:10.1053/j.gastro.2020.01.005  
5.   Misawa Kazuharu, Hasegawa Takanori, Mishima Eikan, et al. Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels. Genetics. 2020; 214 (4): 1079-1090. doi:10.1534/genetics.119.303006  
6.   Yoshida Ken, Yokota Kazuha, Kutsuwada Yukinobu, et al. Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus. Hepatology Communications. 2020; 4 (8): 1124-1135. doi:10.1002/hep4.1529  
7.   Sugino Shigekazu, Konno Daisuke, Kawai Yosuke, et al. Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study. Human Genomics. 2020; 14 (1): 31. doi:10.1186/s40246-020-00282-4  
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9.   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  
10.   Jia Xiaoyuan, Yamamura Tomohiko, Gbadegesin Rasheed, et al. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney International. 2020; 98 (5): 1308-1322. doi:10.1016/j.kint.2020.05.029  
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12.   Kaneyasu Tomoko, Mori Seiichi, Yamauchi Hideko, et al. Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. npj Breast Cancer. 2020; 6 (1): 25. doi:10.1038/s41523-020-0163-1  
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15.   Kim Yong Woo, Kim Yu Jeong, Cheong Hyun Sub, et al. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. Scientific Reports. 2020; 10 (1): 221. doi:10.1038/s41598-019-57066-7  
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17.   Hitomi Yuki, Nakatani Ken, Kojima Kaname, et al. NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants. Cellular and Molecular Gastroenterology and Hepatology. 2019; 7 (3): 515-532. doi:10.1016/j.jcmgh.2018.11.006  
18.   Ishizawa Kota, Yamanaka Mie, Saiki Yuriko, et al. CD45 + CD326 + Cells are Predictive of Poor Prognosis in Non–Small Cell Lung Cancer Patients. Clinical Cancer Research. 2019; 25 (22): 6756-6763. doi:10.1158/1078-0432.CCR-19-0545  
19.   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  
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21.   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  
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23.   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  
24.   Mizuguchi Takeshi, Suzuki Takeshi, Abe Chihiro, et al. A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. Journal of Human Genetics. 2019; 64 (5): 359-368. doi:10.1038/s10038-019-0569-5  
25.   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  
26.   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  
27.   Nishiyama Takeshi, Nakatochi Masahiro, Goto Atsushi, et al. Genome-wide association meta-analysis and Mendelian randomization analysis confirm the influence of ALDH2 on sleep durationin the Japanese population. Sleep. 2019; 42 (6): . doi:10.1093/sleep/zsz046  
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  
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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.   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  
33.   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  
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35.   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  
36.   Hirata Satoshi, Kojima Kaname, Misawa Kazuharu, et al. Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population. Heliyon. 2018; 4 (5): e00625. doi:10.1016/j.heliyon.2018.e00625  
37.   Kakuta Yoichi, Kawai Yosuke, Okamoto Daisuke, et al. NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study. Journal of Gastroenterology. 2018; 53 (9): 1065-1078. doi:10.1007/s00535-018-1486-7  
38.   Naito Takeo, Yokoyama Naonobu, Kakuta Yoichi, et al. Clinical and genetic risk factors for decreased bone mineral density in Japanese patients with inflammatory bowel disease. Journal of Gastroenterology and Hepatology. 2018; 33 (11): 1873-1881. doi:10.1111/jgh.14149  
39.   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  
40.   Shido K., Kojima K., Yamasaki K., et al. 299 A genome-wide association study identifies a novel susceptibility locus for total IgE in a Japanese population from Tohoku Medical Megabank cohort study. Journal of Investigative Dermatology. 2018; 138 (5): S51. doi:10.1016/j.jid.2018.03.305  
41.   Jia Xiaoyuan, Horinouchi Tomoko, Hitomi Yuki, et al. Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population. Journal of the American Society of Nephrology. 2018; 29 (8): 2189-2199. doi:10.1681/ASN.2017080859  
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47.   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  
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49.   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  
50.   Kawashima Minae, Hitomi Yuki, Aiba Yoshihiro, et al. Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. Human Molecular Genetics. 2017; 26 (3): ddw406. doi:10.1093/hmg/ddw406  
51.   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  
52.   Liu Ta-Chiang, Naito Takeo, Liu Zhenqiu, et al. LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn’s disease patients. JCI Insight. 2017; 2 (6): e91917. doi:10.1172/jci.insight.91917  
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59.   Hitomi Yuki, Kojima Kaname, Kawashima Minae, et al. Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis. Scientific Reports. 2017; 7 (1): 2904. doi:10.1038/s41598-017-03067-3  
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66.   Masamune Atsushi, Nakano Eriko, Niihori Tetsuya, et al. Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. Pancreatology. 2016; 16 (5): 814-818. doi:10.1016/j.pan.2016.06.662  
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89.   Hasegawa Takanori, Yamaguchi Rui, Nagasaki Masao, et al. Inference of Gene Regulatory Networks Incorporating Multi-Source Biological Knowledge via a State Space Model with L1 Regularization. PLoS ONE. 2014; 9 (8): e105942. doi:10.1371/journal.pone.0105942  
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