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Glycine/Serine polymorphism at position 38 influences KCNE1 subunit's modulatory actions on rapid and slow delayed rectifier K+ currents.
Yamaguchi Y, Nishide K, Kato M, Hata Y, Mizumaki K, Kinoshita K, Nonobe Y, Tabata T, Sakamoto T, Kataoka N, Nakatani Y, Ichida F, Mori H, Fukurotani K, Inoue H, Nishida N. Yamaguchi Y, et al. Among authors: mori h. Circ J. 2014;78(3):610-8. doi: 10.1253/circj.cj-13-1126. Epub 2014 Jan 11. Circ J. 2014. PMID: 24419801 Free article. Clinical Trial.
A novel missense mutation causing a G487R substitution in the S2-S3 loop of human ether-à-go-go-related gene channel.
Kinoshita K, Yamaguchi Y, Nishide K, Kimoto K, Nonobe Y, Fujita A, Asano K, Tabata T, Mori H, Inoue H, Hata Y, Fukurotani K, Nishida N. Kinoshita K, et al. Among authors: mori h. J Cardiovasc Electrophysiol. 2012 Nov;23(11):1246-53. doi: 10.1111/j.1540-8167.2012.02383.x. Epub 2012 Jul 5. J Cardiovasc Electrophysiol. 2012. PMID: 22764740
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
Kinoshita K, Komatsu T, Nishide K, Hata Y, Hisajima N, Takahashi H, Kimoto K, Aonuma K, Tsushima E, Tabata T, Yoshida T, Mori H, Nishida K, Yamaguchi Y, Ichida F, Fukurotani K, Inoue H, Nishida N. Kinoshita K, et al. Among authors: mori h. J Mol Cell Cardiol. 2014 Jul;72:273-80. doi: 10.1016/j.yjmcc.2014.03.019. Epub 2014 Apr 5. J Mol Cell Cardiol. 2014. PMID: 24713462
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Miyao N, Hata Y, Izumi H, Nagaoka R, Oku Y, Takasaki I, Ishikawa T, Takarada S, Okabe M, Nakaoka H, Ibuki K, Ozawa S, Yoshida T, Hasegawa H, Makita N, Nishida N, Mori H, Ichida F, Hirono K. Miyao N, et al. Among authors: mori h. PLoS One. 2020 Apr 1;15(4):e0227393. doi: 10.1371/journal.pone.0227393. eCollection 2020. PLoS One. 2020. PMID: 32236096 Free PMC article.
6,302 results