Tohoku University Tohoku Medical Megabank Organization (Shigeo Kure)
2024.02.28

1.   Noda Aoi, Obara Taku, Matsuzaki Fumiko, et al. Risk of Major Congenital Malformations Associated with the Use of Japanese Traditional (Kampo) Medicine Containing Ephedra During the First Trimester of Pregnancy. Drugs - Real World Outcomes. 2024; : . doi:10.1007/s40801-023-00411-0  
2.   Hozawa Atsushi, Nakaya Kumi, Nakaya Naoki, et al. Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture. Journal of Epidemiology. 2024; : JE20230241. doi:10.2188/jea.JE20230241  
3.   Yaoita Hisao, Kawai Eiichiro, Takayama Jun, et al. Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. Journal of Human Genetics. 2024; : . doi:10.1038/s10038-024-01223-y  
4.   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  
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. 2023; 30 (3): 63523. doi:10.5551/jat.63523  
6.   Saito-Hakoda Akiko, Kikuchi Atsuo, Takahashi Tadahisa, et al. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). Journal of Bone and Mineral Metabolism. 2023; 41 (2): 193-202. doi:10.1007/s00774-022-01392-w  
7.   Takahashi Ippei, Obara Taku, Kikuchi Saya, et al. Association between maternal psychological distress and children's neurodevelopment in offspring aged 4 years in Japan: The Tohoku Medical Megabank Project Birth and Three‐Generation Cohort Study. Journal of Paediatrics and Child Health. 2023; 59 (3): 548-554. doi:10.1111/jpc.16353  
8.   Kobayashi Tomoko, Kobayashi Mika, Minegishi Naoko, et al. Design and Progress of Child Health Assessments at Community Support Centers in the Birth and Three-Generation Cohort Study of the Tohoku Medical Megabank Project. The Tohoku Journal of Experimental Medicine. 2023; 259 (2): 2022.J103. doi:10.1620/tjem.2022.J103  
9.   Takahashi Ippei, Murakami Keiko, Kobayashi Mika, et al. Association of maternal psychological distress and the use of childcare facilities with children's behavioral problems: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. BMC Psychiatry. 2022; 22 (1): 693. doi:10.1186/s12888-022-04330-2  
10.   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  
11.   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  
12.   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  
13.   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  
14.   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  
15.   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  
16.   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  
17.   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  
18.   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  
19.   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  
20.   Meguro Miyu, Wada Yoichi, Kisou Yurina, et al. Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency. Molecular Genetics and Metabolism Reports. 2022; 33 : 100923. doi:10.1016/j.ymgmr.2022.100923  
21.   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  
22.   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  
23.   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  
24.   Narishige Yuta, Yaoita Hisao, Shibuya Moriei, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. The Tohoku Journal of Experimental Medicine. 2022; 256 (4): 2022.J010. doi:10.1620/tjem.2022.J010  
25.   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  
26.   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  
27.   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  
28.   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  
29.   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  
30.   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  
31.   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  
32.   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  
33.   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  
34.   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  
35.   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  
36.   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  
37.   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  
38.   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  
39.   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  
40.   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  
41.   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  
42.   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  
43.   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  
44.   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  
45.   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  
46.   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  
47.   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  
48.   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  
49.   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  
50.   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  
51.   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  
52.   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  
53.   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  
54.   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  
55.   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  
56.   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  
57.   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; 35 (2): 250–264. doi:10.1093/ndt/gfz126  
58.   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  
59.   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  
60.   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  
61.   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  
62.   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  
63.   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  
64.   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  
65.   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  
66.   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  
67.   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  
68.   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  
69.   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  
70.   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  
71.   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  
72.   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  
73.   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  
74.   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  
75.   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  
76.   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  
77.   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  
78.   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  
79.   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  
80.   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