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A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.
Miyagawa T, Khor SS, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Higashiyama Y, Miyake R, Kondo H, Fujimura Y, Tamura Y, Taniyama Y, Omata N, Tanaka Y, Moriya S, Furuya H, Kato M, Kawamura Y, Otowa T, Miyashita A, Kojima H, Saji H, Shimada M, Yamasaki M, Kobayashi T, Misawa R, Shigematsu Y, Kuwano R, Sasaki T, Ishigooka J, Wada Y, Tsuruta K, Chiba S, Tanaka F, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: furuya h. J Hum Genet. 2018 Dec;63(12):1259-1267. doi: 10.1038/s10038-018-0518-8. Epub 2018 Sep 28. J Hum Genet. 2018. PMID: 30266950 Clinical Trial.
New susceptibility variants to narcolepsy identified in HLA class II region.
Miyagawa T, Toyoda H, Hirataka A, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Imai M, Fujimura Y, Tamura Y, Ikegami A, Wada Y, Moriya S, Furuya H, Kato M, Omata N, Kojima H, Kashiwase K, Saji H, Khor SS, Yamasaki M, Wada Y, Ishigooka J, Kuroda K, Kume K, Chiba S, Yamada N, Okawa M, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: furuya h. Hum Mol Genet. 2015 Feb 1;24(3):891-8. doi: 10.1093/hmg/ddu480. Epub 2014 Sep 25. Hum Mol Genet. 2015. PMID: 25256355
A polymorphism in CCR1/CCR3 is associated with narcolepsy.
Toyoda H, Miyagawa T, Koike A, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Imai M, Fujimura Y, Tamura Y, Ikegami A, Wada Y, Moriya S, Furuya H, Takeuchi M, Kirino Y, Meguro A, Remmers EF, Kawamura Y, Otowa T, Miyashita A, Kashiwase K, Khor SS, Yamasaki M, Kuwano R, Sasaki T, Ishigooka J, Kuroda K, Kume K, Chiba S, Yamada N, Okawa M, Hirata K, Mizuki N, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Toyoda H, et al. Among authors: furuya h. Brain Behav Immun. 2015 Oct;49:148-55. doi: 10.1016/j.bbi.2015.05.003. Epub 2015 May 15. Brain Behav Immun. 2015. PMID: 25986216
An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population.
Miyagawa T, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Hashizume Y, Ogi K, Hiejima H, Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Fujimura Y, Tamura Y, Omata N, Masuya Y, Kondo H, Moriya S, Furuya H, Kato M, Kojima H, Kashiwase K, Saji H, Khor SS, Yamasaki M, Ishigooka J, Wada Y, Chiba S, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K. Miyagawa T, et al. Among authors: furuya h. Hum Genome Var. 2015 Sep 17;2:15031. doi: 10.1038/hgv.2015.31. eCollection 2015. Hum Genome Var. 2015. PMID: 27081540 Free PMC article.
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.
Miyagawa T, Tanaka S, Shimada M, Sakai N, Tanida K, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H, Kanbayashi T, Imanishi A, Ikegami A, Kamei Y, Hida A, Wada Y, Miyamoto M, Takami M, Kondo H, Tamura Y, Taniyama Y, Omata N, Mizuno T, Moriya S, Furuya H, Kato M, Kato K, Ishigooka J, Tsuruta K, Chiba S, Yamada N, Okawa M, Hirata K, Kuroda K, Kume K, Uchimura N, Kitada M, Kodama T, Inoue Y, Nishino S, Mishima K, Tokunaga K, Honda M. Miyagawa T, et al. Among authors: furuya h. NPJ Genom Med. 2022 Apr 12;7(1):29. doi: 10.1038/s41525-022-00298-w. NPJ Genom Med. 2022. PMID: 35414074 Free PMC article.
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S. Ishiura H, et al. Among authors: furuya h. J Hum Genet. 2014 Mar;59(3):163-72. doi: 10.1038/jhg.2013.139. Epub 2014 Jan 23. J Hum Genet. 2014. PMID: 24451228
Independent strong association of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement.
Ueta M, Kaniwa N, Sotozono C, Tokunaga K, Saito Y, Sawai H, Miyadera H, Sugiyama E, Maekawa K, Nakamura R, Nagato M, Aihara M, Matsunaga K, Takahashi Y, Furuya H, Muramatsu M, Ikezawa Z, Kinoshita S. Ueta M, et al. Among authors: furuya h. Sci Rep. 2014 Apr 30;4:4862. doi: 10.1038/srep04862. Sci Rep. 2014. PMID: 24781922 Free PMC article.
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
Tohkin M, Kaniwa N, Saito Y, Sugiyama E, Kurose K, Nishikawa J, Hasegawa R, Aihara M, Matsunaga K, Abe M, Furuya H, Takahashi Y, Ikeda H, Muramatsu M, Ueta M, Sotozono C, Kinoshita S, Ikezawa Z; Japan Pharmacogenomics Data Science Consortium. Tohkin M, et al. Among authors: furuya h. Pharmacogenomics J. 2013 Feb;13(1):60-9. doi: 10.1038/tpj.2011.41. Epub 2011 Sep 13. Pharmacogenomics J. 2013. PMID: 21912425
898 results