Tohoku University Tohoku Medical Megabank Organization (Shigeo Kure)
2022.08.12

1.   Noda Aoi, Ishikuro Mami, Obara Taku, et al. Association between maternal infertility treatment and child neurodevelopment: findings from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Miyagi and Iwate Prefectures, Japan. BMJ Open. 2022; 12 (6): e060944. doi:10.1136/bmjopen-2022-060944  
2.   Shibuya Moriei, Yaoita Hisao, Kodama Kaori, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain and Development. 2022; 44 (1): 63-67. doi:10.1016/j.braindev.2021.08.004  
3.   Kogure Mana, Nakamura Tomohiro, Tsuchiya Naho, et al. Consideration of the reference value and number of measurements of the urinary sodium-to-potassium ratio based on the prevalence of untreated home hypertension: TMM Cohort Study. Hypertension Research. 2022; 45 (5): 866-875. doi:10.1038/s41440-021-00843-7  
4.   Ohneda Kinuko, Hiratsuka Masahiro, Kawame Hiroshi, et al. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. JMA Journal. 2022; 5 (2): . doi:10.31662/jmaj.2021-0156  
5.   Takase Masato, Nakamura Tomohiro, Nakaya Naoki, et al. Associations between the Combined Fat Mass Index and Fat-Free Mass Index with Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study. Journal of Atherosclerosis and Thrombosis. 2022; : 63523. doi:10.5551/jat.63523  
6.   Takase Masato, Nakamura Tomohiro, Hirata Takumi, et al. Association between fat mass index, fat‐free mass index and hemoglobin A1c in a Japanese population: The Tohoku Medical Megabank Community‐based Cohort Study. Journal of Diabetes Investigation. 2022; 13 (5): 858-867. doi:10.1111/jdi.13729  
7.   Itabashi Fumi, Hirata Takumi, Kogure Mana, et al. Combined Associations of Liver Enzymes and Obesity With Diabetes Mellitus Prevalence: The Tohoku Medical Megabank Community-based Cohort Study. Journal of Epidemiology. 2022; 32 (5): JE20200384. doi:10.2188/jea.JE20200384  
8.   Sugawara Junichi, Ishikuro Mami, Obara Taku, et al. Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Journal of epidemiology. 2022; 32 (2): 69-79. doi:10.2188/jea.JE20200338  
9.   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  
10.   Wada Yoichi, Arai‐Ichinoi Natsuko, Kikuchi Atsuo, Kure Shigeo. β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency. Journal of Inherited Metabolic Disease. 2022; 45 (2): 334-339. doi:10.1002/jimd.12444  
11.   Suzuki Toshihiro, Wada Yoichi, Mikami-Saito Yasuko, et al. Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening. Molecular Genetics and Metabolism Reports. 2022; 30 : 100834. doi:10.1016/j.ymgmr.2021.100834  
12.   Fuse Nobuo, Sakurai Miyuki, Motoike Ikuko N., et al. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan. Ophthalmology Science. 2022; 2 (1): 100113. doi:10.1016/j.xops.2022.100113  
13.   Kanno I., Hasegawa K., Nakamura T., et al. Relationship between the housing coldness/warmth evaluation by CASBEE Housing Health Checklist and psychological distress based on TMM Community-Based Cohort Study: a cross-sectional analysis. Public Health. 2022; 208 : 98-104. doi:10.1016/j.puhe.2022.05.003  
14.   Nishimoto Yuka, Tsubono Yoshitaka, Kogure Mana, et al. The prevalence of current smokers and alcohol drinkers among cancer survivors and subjects with no history of cancer among participants in a community‐based cardiometabolic screening program in Miyagi prefecture, Japan: a comparison with nationally repres. Cancer Medicine. 2021; 10 (24): 9000-9011. doi:10.1002/cam4.4364  
15.   Takase Masato, Nakamura Tomohiro, Tsuchiya Naho, et al. Association between the combined fat mass and fat-free mass index and hypertension: The Tohoku Medical Megabank Community-based Cohort Study. Clinical and Experimental Hypertension. 2021; 43 (7): 610-621. doi:10.1080/10641963.2021.1925681  
16.   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  
17.   Ogishima Soichi, Nagaie Satoshi, Mizuno Satoshi, et al. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. Human Genome Variation. 2021; 8 (1): 44. doi:10.1038/s41439-021-00175-5  
18.   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  
19.   Hirata Takumi, Kogure Mana, Tsuchiya Naho, et al. Impacts of the urinary sodium-to-potassium ratio, sleep efficiency, and conventional risk factors on home hypertension in a general Japanese population. Hypertension Research. 2021; 44 (7): 858-865. doi:10.1038/s41440-021-00628-y  
20.   Kikuchi Atsuo, Wada Yoichi, Ohura Toshihiro, Kure Shigeo. The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. International Journal of Neonatal Screening. 2021; 7 (4): 68. doi:10.3390/ijns7040068  
21.   Segawa Katsumori, Kikuchi Atsuo, Noji Tomoyasu, et al. A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes. Journal of Clinical Investigation. 2021; 131 (18): . doi:10.1172/JCI148005  
22.   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  
23.   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  
24.   Tanaka Toshiaki, Kato Noriko, Yokoya Susumu, et al. Changes in height standard deviation scores during early life are affected by nutrition. Pediatrics International. 2021; 63 (6): 710-715. doi:10.1111/ped.14577  
25.   Wada Yoichi, Arai-Ichinoi Natsuko, Kikuchi Atsuo, et al. Hypoketotic hypoglycemia in citrin deficiency: a case report. BMC Pediatrics. 2020; 20 (1): 444. doi:10.1186/s12887-020-02349-6  
26.   Kuniyoshi Yasutaka, Obara Taku, Ishikuro Mami, et al. Effectiveness of seasonal inactivated influenza vaccination in Japanese schoolchildren: an epidemiologic study at the community level. Human Vaccines & Immunotherapeutics. 2020; 16 (2): 295-300. doi:10.1080/21645515.2019.1655833  
27.   Wagata Maiko, Kogure Mana, Nakaya Naoki, et al. Hypertensive disorders of pregnancy, obesity, and hypertension in later life by age group: a cross-sectional analysis. Hypertension Research. 2020; 43 (11): 1277-1283. doi:10.1038/s41440-020-0463-8  
28.   Kogure Mana, Hirata Takumi, Nakaya Naoki, et al. Multiple measurements of the urinary sodium-to-potassium ratio strongly related home hypertension: TMM Cohort Study. Hypertension Research. 2020; 43 (1): 62-71. doi:10.1038/s41440-019-0335-2  
29.   Hirata Takumi, Nakamura Tomohiro, Kogure Mana, et al. Reduced sleep efficiency, measured using an objective device, was related to an increased prevalence of home hypertension in Japanese adults. Hypertension Research. 2020; 43 (1): 23-29. doi:10.1038/s41440-019-0329-0  
30.   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  
31.   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  
32.   Mikami-Saito Yasuko, Maekawa Masamitsu, Wada Yoichi, et al. Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism Reports. 2020; 25 : 100674. doi:10.1016/j.ymgmr.2020.100674  
33.   Wagata Maiko, Ishikuro Mami, Obara Taku, et al. Low birth weight and abnormal pre-pregnancy body mass index were at higher risk for hypertensive disorders of pregnancy. Pregnancy Hypertension. 2020; 22 : 119-125. doi:10.1016/j.preghy.2020.08.001  
34.   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  
35.   Narita Akira, Nagai Masato, Mizuno Satoshi, et al. Clustering by phenotype and genome-wide association study in autism. Translational Psychiatry. 2020; 10 (1): 290. doi:10.1038/s41398-020-00951-x  
36.   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  
37.   Iwasawa Shinya, Yanagi Kumiko, Kikuchi Atsuo, et al. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of Neurology. 2019; 85 (6): 927-933. doi:10.1002/ana.25481  
38.   Isojima Tsuyoshi, Kato Noriko, Yokoya Susumu, et al. Early excessive growth with distinct seasonality in preschool obesity. Archives of Disease in Childhood. 2019; 104 (1): 53-57. doi:10.1136/archdischild-2018-314862  
39.   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  
40.   Kuniyoshi Yasutaka, Kikuya Masahiro, Matsubara Hiroko, et al. Association of Feeding Practice with Childhood Overweight and/or Obesity in Affected Areas Before and After the Great East Japan Earthquake. Breastfeeding Medicine. 2019; 14 (6): 382-389. doi:10.1089/bfm.2018.0254  
41.   Kuniyoshi Yasutaka, Kikuya Masahiro, Miyashita Masako, et al. Prefabricated Temporary Housing and Eczema or Respiratory Symptoms in Schoolchildren after the Great East Japan Earthquake: The ToMMo Child Health Study. Disaster Medicine and Public Health Preparedness. 2019; 13 (5-6): 905-911. doi:10.1017/dmp.2019.8  
42.   Wada Yoichi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, et al. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genetics in Medicine. 2019; 21 (6): 1286-1294. doi:10.1038/s41436-018-0340-x  
43.   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  
44.   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  
45.   Fuse Nobuo, Sakurai-Yageta Mika, Katsuoka Fumiki, et al. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. JMA Journal. 2019; 2 (2): 113-122. doi:10.31662/jmaj.2019-0014  
46.   Iwasawa Shinya, Kikuchi Atsuo, Wada Yoichi, et al. The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. Molecular Genetics and Metabolism. 2019; 126 (4): 362-367. doi:10.1016/j.ymgme.2019.01.018  
47.   Kikuchi Koichi, Saigusa Daisuke, Kanemitsu Yoshitomi, et al. Gut microbiome-derived phenyl sulfate contributes to albuminuria in diabetic kidney disease. Nature Communications. 2019; 10 (1): 1835. doi:10.1038/s41467-019-09735-4  
48.   Nanto-Hara Fumika, Kanemitsu Yoshitomi, Fukuda Shinji, et al. The guanylate cyclase C agonist linaclotide ameliorates the gut–cardio–renal axis in an adenine-induced mouse model of chronic kidney disease. Nephrology Dialysis Transplantation. 2019; : . doi:10.1093/ndt/gfz126  
49.   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  
50.   Kuniyoshi Yasutaka, Kikuya Masahiro, Miyashita Masako, et al. Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study. Allergology International. 2018; 67 (4): 481-486. doi:10.1016/j.alit.2018.02.009  
51.   Ono Atsushi, Isojima Tsuyoshi, Yokoya Susumu, et al. Effect of the Fukushima earthquake on weight in early childhood: a retrospective analysis. BMJ Paediatrics Open. 2018; 2 (1): e000229. doi:10.1136/bmjpo-2017-000229  
52.   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  
53.   Kato N, Isojima T, Yokoya S, et al. Earlier BMI rebound and lower pre-rebound BMI as risk of obesity among Japanese preschool children. International Journal of Obesity. 2018; 42 (1): 52-58. doi:10.1038/ijo.2017.242  
54.   Yokomichi Hiroshi, Matsubara Hiroko, Ishikuro Mami, et al. Impact of the Great East Japan Earthquake on Body Mass Index, Weight, and Height of Infants and Toddlers: An Infant Survey. Journal of Epidemiology. 2018; 28 (5): 237-244. doi:10.2188/jea.JE20170006  
55.   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  
56.   Ashraf Shazia, Kudo Hiroki, Rao Jia, et al. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature Communications. 2018; 9 (1): 1960. doi:10.1038/s41467-018-04193-w  
57.   Obara Taku, Ishikuro Mami, Tamiya Gen, et al. Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods. Scientific Reports. 2018; 8 (1): 14840. doi:10.1038/s41598-018-33110-w  
58.   Katayama Saori, Suzuki Mikiko, Yamaoka Ayaka, et al. GATA2 haploinsufficiency accelerates EVI1-driven leukemogenesis. Blood. 2017; 130 (7): 908-919. doi:10.1182/blood-2016-12-756767  
59.   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  
60.   Ishikuro Mami, Matsubara Hiroko, Kikuya Masahiro, et al. Disease prevalence among nursery school children after the Great East Japan earthquake. BMJ Global Health. 2017; 2 (2): e000127. doi:10.1136/bmjgh-2016-000127  
61.   Kikuya Masahiro, Matsubara Hiroko, Ishikuro Mami, et al. Alterations in physique among young children after the Great East Japan Earthquake: Results from a nationwide survey. Journal of Epidemiology. 2017; 27 (10): 462-468. doi:10.1016/j.je.2016.09.012  
62.   Matsubara Hiroko, Ishikuro Mami, Kikuya Masahiro, et al. Design of the health examination survey on early childhood physical growth in the Great East Japan Earthquake affected areas. Journal of Epidemiology. 2017; 27 (3): 135-142. doi:10.1016/j.je.2016.03.001  
63.   Kikuya Masahiro. Development of a Questionnaire Method of Screening for Citrin Deficiency in Schoolchildren. JPCD. 2017; 4 : 1-4. doi:10.17303/jpcd.2017.4.101  
64.   Isojima Tsuyoshi, Yokoya Susumu, Ono Atsushi, et al. Prolonged elevated body mass index in preschool children after the Great East Japan Earthquake. Pediatrics International. 2017; 59 (9): 1002-1009. doi:10.1111/ped.13340  
65.   Matsubara Hiroko, Ishikuro Mami, Kikuya Masahiro, et al. Design of the Nationwide Nursery School Survey on Child Health Throughout the Great East Japan Earthquake. Journal of Epidemiology. 2016; 26 (2): 98-104. doi:10.2188/jea.JE20150073  
66.   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  
67.   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  
68.   Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human Genetics. 2015; 134 (6): 649-658. doi:10.1007/s00439-015-1553-6  
69.   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  
70.   Miyashita Masako, Kikuya Masahiro, Yamanaka Chizuru, et al. Eczema and Asthma Symptoms among Schoolchildren in Coastal and Inland Areas after the 2011 Great East Japan Earthquake: The ToMMo Child Health Study. The Tohoku Journal of Experimental Medicine. 2015; 237 (4): 297-305. doi:10.1620/tjem.237.297  
71.   Kikuya Masahiro, Miyashita Masako, Yamanaka Chizuru, et al. Protocol and Research Perspectives of the ToMMo Child Health Study after the 2011 Great East Japan Earthquake. The Tohoku Journal of Experimental Medicine. 2015; 236 (2): 123-130. doi:10.1620/tjem.236.123