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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: gnecchi 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.
Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Rocchetti M, Sala L, Dreizehnter L, Crotti L, Sinnecker D, Mura M, Pane LS, Altomare C, Torre E, Mostacciuolo G, Severi S, Porta A, De Ferrari GM, George AL Jr, Schwartz PJ, Gnecchi M, Moretti A, Zaza A. Rocchetti M, et al. Among authors: gnecchi m. Cardiovasc Res. 2017 Apr 1;113(5):531-541. doi: 10.1093/cvr/cvx006. Cardiovasc Res. 2017. PMID: 28158429
The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.
Mura M, Mehta A, Ramachandra CJ, Zappatore R, Pisano F, Ciuffreda MC, Barbaccia V, Crotti L, Schwartz PJ, Shim W, Gnecchi M. Mura M, et al. Among authors: gnecchi m. Int J Cardiol. 2017 Aug 1;240:367-371. doi: 10.1016/j.ijcard.2017.04.038. Epub 2017 Apr 12. Int J Cardiol. 2017. PMID: 28433559
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.
Mura M, Lee YK, Ginevrino M, Zappatore R, Pisano F, Boni M, Dagradi F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M. Mura M, et al. Among authors: gnecchi m. Stem Cell Res. 2018 May;29:157-161. doi: 10.1016/j.scr.2018.04.002. Epub 2018 Apr 7. Stem Cell Res. 2018. PMID: 29677589 Free article.
133 results