Tokunaga, Katsushi

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus

Yasuda, K., Miyake, K., Horikawa, Y., Hara, K., Osawa, H., Furuta, H., Hirota, Y., Mori, H., Jonsson, A., Sato, Y., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyPancreatic function and diabetes

Cited by 776

Transcriptional regulation of endochondral ossification by HIF-2α during skeletal growth and osteoarthritis development

Saito, T., Fukai, A., Mabuchi, A., Ikeda, T., Yano, F., Ohba, S., Nishida, N., Akune, T., Yoshimura, N., Nakagawa, T., et al. (2010) · Nature Medicine

Osteoarthritis Treatment and MechanismsBone Metabolism and Diseases

Cited by 532

A Practical Genome Scan for Population-Specific Strong Selective Sweeps That Have Reached Fixation.

Kimura, R., Fujimoto, A., Tokunaga, K., & Ohashi, J. (2007) · PLoS ONE

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 461

Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population

Nakamura, M., Nishida, N., Kawashima, M., Aiba, Y., Tanaka, A., Yasunami, M., Nakamura, H., Komori, A., Nakamuta, M., Zeniya, M., et al. (2012) · The American Journal of Human Genetics

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 267

A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness

Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., et al. (2008) · Human Molecular Genetics

Hair Growth and DisordersGenetic Associations and Epidemiology

Cited by 231

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

Miyashita, A., Koike, A., Jun, G., Wang, L.-S., Takahashi, S., Matsubara, E., Kawarabayashi, T., Shoji, M., Tomita, N., Arai, H., et al. (2013) · PLoS ONE

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 196

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Liu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., et al. (2010) · Journal of Human Genetics

Autism Spectrum Disorder ResearchNeuroendocrine regulation and behavior

Cited by 195

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Cordell, H. J., Fryett, J. J., Ueno, K., Darlay, R., Aiba, Y., Hitomi, Y., Kawashima, M., Nishida, N., Khor, S.-S., Gervais, O., et al. (2021) · Journal of Hepatology

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 182

Human leukocyte antigen matching estimations in a hypothetical bank of human embryonic stem cell lines in the Japanese population for use in cell transplantation therapy

Nakajima, F., Tokunaga, K., & Nakatsuji, N. (2007) · Stem Cells

Pluripotent Stem Cells ResearchHematopoietic Stem Cell Transplantation

Cited by 168

Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection

Ohashi, J., Naka, I., Patarapotikul, J., Hananantachai, H., Brittenham, G., Looareesuwan, S., Clark, A. G., & Tokunaga, K. (2004) · The American Journal of Human Genetics

Malaria Research and ControlGenetic Associations and Epidemiology

Cited by 137

Discerning the Origins of the Negritos, First Sundaland People: Deep Divergence and Archaic Admixture

Jinam, T. A., Phipps, M. E., Aghakhanian, F., Majumder, P. P., Datar, F., Stoneking, M., Sawai, H., Nishida, N., Tokunaga, K., Kawamura, S., et al. (2017) · Genome Biology and Evolution

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 103

Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

Adachi, S., Tajima, A., Quan, J., Haino, K., Yoshihara, K., Masuzaki, H., Katabuchi, H., Ikuma, K., Suginami, H., Nishida, N., et al. (2010) · Journal of Human Genetics

Endometriosis Research and TreatmentGenetic Associations and Epidemiology

Cited by 103

Worldwide Differences in the Incidence of Insulin Autoimmune Syndrome (Hirata Disease) with Respect to the Evolution of HLA-DR4 Alleles

Uchigata, Y., Hirata, Y., Omori, Y., Iwamoto, Y., & Tokunaga, K. (2000) · Human Immunology

Diabetes and associated disordersGenetic Associations and Epidemiology

Cited by 99

Practical guide for managing large-scale human genome data in research

Tanjo, T., Kawai, Y., Tokunaga, K., Ogasawara, O., & Nagasaki, M. (2021) · Journal of Human Genetics

Scientific Computing and Data ManagementGenomics and Phylogenetic Studies

Cited by 62

Epigenome-wide association study of DNA methylation in panic disorder

Shimada-Sugimoto, M., Otowa, T., Miyagawa, T., Umekage, T., Kawamura, Y., Bundo, M., Iwamoto, K., Tochigi, M., Kasai, K., Kaiya, H., et al. (2017) · Clinical Epigenetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 61

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Asselta, R., Paraboschi, E. M., Gerussi, A., Cordell, H. J., Mells, G. F., Sandford, R. N., Jones, D. E., Nakamura, M., Ueno, K., Hitomi, Y., et al. (2021) · Gastroenterology

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 55

Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

Kawashima, M., Hitomi, Y., Aiba, Y., Nishida, N., Kojima, K., Kawai, Y., Nakamura, H., Tanaka, A., Zeniya, M., Hashimoto, E., et al. (2017) · Human Molecular Genetics

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 52

Association study between the TNXB locus and schizophrenia in a Japanese population

Tochigi, M., Zhang, X., Ohashi, J., Hibino, H., Otowa, T., Rogers, M., Kato, T., Okazaki, Y., Kato, N., Tokunaga, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 25

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

Liu, X., Kawashima, M., Miyagawa, T., Otowa, T., Latt, K. Z., Thiri, M., Nishida, H., Sugiyama, T., Tsurusaki, Y., Matsumoto, N., et al. (2015) · Human Genome Variation

Autism Spectrum Disorder ResearchNeuroendocrine regulation and behavior

Cited by 18

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Higgins, J., Dalgleish, R., Dunnen, J. T., Barsh, G., Freeman, P. J., Cooper, D. N., Cullinan, S., Davies, K. E., Dorkins, H., Gong, L., et al. (2021) · Human Mutation

Academic Writing and PublishingGenomics and Rare Diseases

Cited by 13

A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia

Yamanouchi, Y., Takano, T., Hamaguchi, H., & Tokunaga, K. (2001) · Journal of Human Genetics

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 8

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy

Kaburagi, K., Hagiwara, Y., Tachikawa, K., Miyake, N., Akiyama, H., Kawai, Y., Omae, Y., Tokunaga, K., Yamano, Y., Shimizu, T., et al. (2024) · BMC Neurology

Congenital Heart Disease StudiesCardiovascular and Diving-Related Complications

Cited by 1