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R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.
Bartos DC, Duchatelet S, Burgess DE, Klug D, Denjoy I, Peat R, Lupoglazoff JM, Fressart V, Berthet M, Ackerman MJ, January CT, Guicheney P, Delisle BP. Bartos DC, et al. Among authors: delisle bp. Heart Rhythm. 2011 Jan;8(1):48-55. doi: 10.1016/j.hrthm.2010.09.010. Epub 2010 Sep 17. Heart Rhythm. 2011. PMID: 20850564 Free PMC article.
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.
Bartos DC, Anderson JB, Bastiaenen R, Johnson JN, Gollob MH, Tester DJ, Burgess DE, Homfray T, Behr ER, Ackerman MJ, Guicheney P, Delisle BP. Bartos DC, et al. Among authors: delisle bp. J Cardiovasc Electrophysiol. 2013 May;24(5):562-9. doi: 10.1111/jce.12068. Epub 2013 Jan 25. J Cardiovasc Electrophysiol. 2013. PMID: 23350853 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: delisle bp. 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.
85 results