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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster M, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner J, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM. O'Neill MJ, et al. Among authors: ohno s. medRxiv [Preprint]. 2024 Jun 18:2024.02.01.24301443. doi: 10.1101/2024.02.01.24301443. medRxiv. 2024. Update in: Circulation. 2024 Dec 3;150(23):1869-1881. doi: 10.1161/CIRCULATIONAHA.124.069828 PMID: 38370760 Free PMC article. Updated. Preprint.
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL Jr, Trégouët DA, Guicheney P, Schwartz PJ. Duchatelet S, et al. Among authors: ohno s. Circ Cardiovasc Genet. 2013 Aug;6(4):354-61. doi: 10.1161/CIRCGENETICS.113.000023. Epub 2013 Jul 15. Circ Cardiovasc Genet. 2013. PMID: 23856471 Free PMC article.
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.
Bartos DC, Giudicessi JR, Tester DJ, Ackerman MJ, Ohno S, Horie M, Gollob MH, Burgess DE, Delisle BP. Bartos DC, et al. Among authors: ohno s. Heart Rhythm. 2014 Mar;11(3):459-68. doi: 10.1016/j.hrthm.2013.11.021. Epub 2013 Nov 21. Heart Rhythm. 2014. PMID: 24269949 Free PMC article.
Author reply: To PMID 24394973.
Ohno S, Horie M. Ohno S, et al. Europace. 2014 Dec;16(12):1864-5. doi: 10.1093/europace/euu061. Epub 2014 Apr 12. Europace. 2014. PMID: 24728419 No abstract available.
Novel SCN10A variants associated with Brugada syndrome.
Fukuyama M, Ohno S, Makiyama T, Horie M. Fukuyama M, et al. Among authors: ohno s. Europace. 2016 Jun;18(6):905-11. doi: 10.1093/europace/euv078. Epub 2015 Apr 4. Europace. 2016. PMID: 25842276
The genetics underlying acquired long QT syndrome: impact for genetic screening.
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. Itoh H, et al. Among authors: ohno s. Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28. Eur Heart J. 2016. PMID: 26715165 Free PMC article.
Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest.
van der Werf C, Lieve KV, Bos JM, Lane CM, Denjoy I, Roses-Noguer F, Aiba T, Wada Y, Ingles J, Leren IS, Rudic B, Schwartz PJ, Maltret A, Sacher F, Skinner JR, Krahn AD, Roston TM, Tfelt-Hansen J, Swan H, Robyns T, Ohno S, Roberts JD, van den Berg MP, Kammeraad JA, Probst V, Kannankeril PJ, Blom NA, Behr ER, Borggrefe M, Haugaa KH, Semsarian C, Horie M, Shimizu W, Till JA, Leenhardt A, Ackerman MJ, Wilde AA. van der Werf C, et al. Among authors: ohno s. Eur Heart J. 2019 Sep 14;40(35):2953-2961. doi: 10.1093/eurheartj/ehz309. Eur Heart J. 2019. PMID: 31145795
2,945 results