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MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.
Lee YK, Sala L, Mura M, Rocchetti M, Pedrazzini M, Ran X, Mak TSH, Crotti L, Sham PC, Torre E, Zaza A, Schwartz PJ, Tse HF, Gnecchi M. Lee YK, et al. Among authors: pedrazzini m. Cardiovasc Res. 2021 Feb 22;117(3):767-779. doi: 10.1093/cvr/cvaa019. Cardiovasc Res. 2021. PMID: 32173736 Free PMC article.
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K, Wada Y, Sala L, Denjoy I, Egly C, O'Neill MJ, Aiba T, Shimizu W, Makita N, Ishikawa T, Crotti L, Spazzolini C, Kotta MC, Dagradi F, Castelletti S, Pedrazzini M, Gnecchi M, Leenhardt A, Salem JE, Ohno S, Zuo Y, Glazer AM, Mosley JD, Roden DM, Knollmann BC, Blume JD, Extramiana F, Schwartz PJ, Horie M, Kroncke BM. Kozek K, et al. Among authors: pedrazzini m. Circ Genom Precis Med. 2021 Aug;14(4):e003289. doi: 10.1161/CIRCGEN.120.003289. Epub 2021 Jul 26. Circ Genom Precis Med. 2021. PMID: 34309407 Free PMC article.
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
Schwartz PJ, Moreno C, Kotta MC, Pedrazzini M, Crotti L, Dagradi F, Castelletti S, Haugaa KH, Denjoy I, Shkolnikova MA, Brink PA, Heradien MJ, Seyen SRM, Spätjens RLHMG, Spazzolini C, Volders PGA. Schwartz PJ, et al. Among authors: pedrazzini m. Eur Heart J. 2021 Dec 7;42(46):4743-4755. doi: 10.1093/eurheartj/ehab582. Eur Heart J. 2021. PMID: 34505893 Free PMC article.
Gene symbol: KCNQ1.
Crotti L, Insolia R, Pedrazzini M, Ferrandi C, Tosin L, Moncalvo C, Turco A, Agnetti A, De Ferrari GM, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Hum Genet. 2007 Feb;120(6):912. Hum Genet. 2007. PMID: 17438609 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Insolia R, Ferrandi C, Pedrazzini M, Cuoretti A, Gandolfi E, Sanzo A, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960614 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Celano G, Dagradi F, Stramba-Badiale M, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Hum Genet. 2008 Jun;123(5):543. Hum Genet. 2008. PMID: 20960619 No abstract available.
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, Yang P, Roden DM, George AL Jr, Schwartz PJ. Crotti L, et al. Among authors: pedrazzini m. Circulation. 2005 Aug 30;112(9):1251-8. doi: 10.1161/CIRCULATIONAHA.105.549071. Epub 2005 Aug 22. Circulation. 2005. PMID: 16116052
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