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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.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene.
Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M. Mura M, et al. Among authors: gnecchi m. Stem Cell Res. 2019 Apr;36:101416. doi: 10.1016/j.scr.2019.101416. Epub 2019 Mar 6. Stem Cell Res. 2019. PMID: 30878014 Free article.
133 results