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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: tsuruta k. 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.
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: tsuruta k. 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.
The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1.
Hayashida A, Li Y, Yoshino H, Daida K, Ikeda A, Ogaki K, Fuse A, Mori A, Takanashi M, Nakahara T, Yoritaka A, Tomizawa Y, Furukawa Y, Kanai K, Nakayama Y, Ito H, Ogino M, Hattori Y, Hattori T, Ichinose Y, Takiyama Y, Saito T, Kimura T, Aizawa H, Shoji H, Mizuno Y, Matsushita T, Sato M, Sekijima Y, Morita M, Iwasaki A, Kusaka H, Tada M, Tanaka F, Sakiyama Y, Fujimoto T, Nagara Y, Kashihara K, Todo H, Nakao K, Tsuruta K, Yoshikawa M, Hara H, Yokote H, Murase N, Nakamagoe K, Tamaoka A, Takamiya M, Morimoto N, Nokura K, Kako T, Funayama M, Nishioka K, Hattori N. Hayashida A, et al. Among authors: tsuruta k. Neurobiol Aging. 2021 Jan;97:146.e1-146.e13. doi: 10.1016/j.neurobiolaging.2020.06.017. Epub 2020 Jul 2. Neurobiol Aging. 2021. PMID: 32713623
360 results