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Initiatives & Research
Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population
Jun Hirata, Kazuyoshi Hosomichi, Saori Sakaue, et al.
Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
Susanna C. Larsson, Matthew Traylor, Stephen Burgess, et al.
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data
Toshihiro Kishikawa, Yukihide Momozawa, Takeshi Ozeki, et al.
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control
Samuela Pollack, Robert P. Igo, Richard A. Jensen, et al.
Novel Common Genetic Susceptibility Loci for Colorectal Cancer
Stephanie L. Schmit, Christopher K. Edlund, Fredrick R. Schumacher, et al.
Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias
Yoshiyuki Kojima, Tomoyuki Koguchi, Kentaro Mizuno, et al.
Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection
Fumihiko Takeuchi, Iwao Kukimoto, Zhiqiang Li, et al.
Genetically Determined Levels of Circulating Cytokines and Risk of Stroke
Marios K. Georgakis, Dipender Gill, Kristiina Rannikmäe, et al.
Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis
Shuhei Okazaki, Takaaki Morimoto, Yoichiro Kamatani, et al.
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Andrew P. Morris, Thu H. Le, Haojia Wu, et al.
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.
Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, et al.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, et al.
A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes
Makiko Taira, Minako Imamura, Atsushi Takahashi, et al.
Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1
Varalee Yodsurang, Yaqi Tang, Yukie Takahashi, et al.
Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity
Saori Sakaue, Jun Hirata, Yuichi Maeda, et al.
Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21
Chizu Tanikawa, Yoichiro Kamatani, Osamu Toyoshima, et al.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent
Fumihiko Takeuchi, Masato Akiyama, Nana Matoba, et al.
Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn’s disease in Asians
Buhm Han, Masato Akiyama, Kyung-Kon Kim, et al.
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci
Anas M. Khanshour, Ikuyo Kou, Yanhui Fan, et al.
Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke
John W. Cole, Huichun Xu, Kathleen Ryan, et al.
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation
Alexander Teumer, Layal Chaker, Stefan Groeneweg, et al.
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls
Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, et al.
Development of a Highly Sensitive Device for Counting the Number of Disease-Specific Exosomes in Human Sera
Yasuaki Kabe, Makoto Suematsu, Satoshi Sakamoto, et al.
Trans-Ethnic Polygenic Analysis Supports Genetic Overlaps of Lumbar Disc Degeneration With Height, Body Mass Index, and Bone Mineral Density
Xueya Zhou, Ching-Lung Cheung, Tatsuki Karasugi, et al.
A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis
Ikuyo Kou, Kota Watanabe, Yohei Takahashi, et al.
Re-evaluating classical body type theories: genetic correlation between psychiatric disorders and body mass index
Masashi Ikeda, Satoshi Tanaka, Takeo Saito, et al.
Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population
Taisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, et al.
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
Natalie R. van Zuydam, Emma Ahlqvist, Niina Sandholm, et al.
Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease
Yumi Yamaguchi-Kabata, Takashi Morihara, Tomoyuki Ohara, et al.
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Mary F. Feitosa, Aldi T. Kraja, Daniel I. Chasman, et al.
Multi-ethnic genome-wide association study for atrial fibrillation
Carolina Roselli, Mark D. Chaffin, Lu-Chen Weng, et al.
Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age
Hea-Ji Kim, Sin Weon Yun, Jeong Jin Yu, et al.
Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese
Tomoyuki Tajima, Hiroyuki Morita, Kaoru Ito, et al.
Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study
Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, et al.
Elucidating the genetic architecture of reproductive ageing in the Japanese population
Momoko Horikoshi, Felix R. Day, Masato Akiyama, et al.
GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12
Chizu Tanikawa, Yoichiro Kamatani, Atsushi Takahashi, et al.
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Yukinori Okada, Yukihide Momozawa, Saori Sakaue, et al.
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma
Yukihiro Shiga, Masato Akiyama, Koji M. Nishiguchi, et al.
Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, et al.
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Rainer Malik, Ganesh Chauhan, Matthew Traylor, et al.
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
Masahiro Kanai, Masato Akiyama, Atsushi Takahashi, et al.
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure
Yun J. Sung, Thomas W. Winkler, Lisa de Las Fuentes, et al.
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes
M. Okuno, T. Ayabe, I. Yokota, et al.
Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility
Chizu Tanikawa, Koji Ueda, Akari Suzuki, et al.
Decrease in PSCA expression caused by Helicobacter pylori infection may promote progression to severe gastritis
Osamu Toyoshima, Chizu Tanikawa, Ryuta Yamamoto, et al.
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
Florence Demenais, Patricia Margaritte-Jeannin, Kathleen C. Barnes, et al.
Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders
Xiao Xiao, Lu Wang, Chuang Wang, et al.
Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population
Chikashi Terao, Yukinori Okada, Katsunori Ikari, et al.
Genetic Variants of RAMP2 and CLR are Associated with Stroke
Teruhide Koyama, Nagato Kuriyama, Etsuko Ozaki, et al.
Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis
Yosuke Omae, Licht Toyo-Oka, Hideki Yanai, et al.
