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Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Te Riele AS, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TA, Tandri H, Fowler SJ, Hauer RN, Tomaselli G, van den Berg MP, Taylor MR, Brun F, Sinagra G, Wilde AA, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP. Te Riele AS, et al. Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234. Cardiovasc Res. 2017. PMID: 28069705 Free PMC article.
Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm.
Cerrone M, Montnach J, Lin X, Zhao YT, Zhang M, Agullo-Pascual E, Leo-Macias A, Alvarado FJ, Dolgalev I, Karathanos TV, Malkani K, Van Opbergen CJM, van Bavel JJA, Yang HQ, Vasquez C, Tester D, Fowler S, Liang F, Rothenberg E, Heguy A, Morley GE, Coetzee WA, Trayanova NA, Ackerman MJ, van Veen TAB, Valdivia HH, Delmar M. Cerrone M, et al. Nat Commun. 2017 Jul 24;8(1):106. doi: 10.1038/s41467-017-00127-0. Nat Commun. 2017. PMID: 28740174 Free PMC article.
The noncanonical functions of Cx43 in the heart.
Agullo-Pascual E, Delmar M. Agullo-Pascual E, et al. J Membr Biol. 2012 Aug;245(8):477-82. doi: 10.1007/s00232-012-9466-y. Epub 2012 Jul 24. J Membr Biol. 2012. PMID: 22825715 Free PMC article.
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, Novelli V, Kim C, Tirasawadichai T, Judge DP, Rothenberg E, Chen HS, Napolitano C, Priori SG, Delmar M. Cerrone M, et al. Circulation. 2014 Mar 11;129(10):1092-103. doi: 10.1161/CIRCULATIONAHA.113.003077. Epub 2013 Dec 18. Circulation. 2014. PMID: 24352520 Free PMC article.
Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.
Trembley MA, Quijada P, Agullo-Pascual E, Tylock KM, Colpan M, Dirkx RA Jr, Myers JR, Mickelsen DM, de Mesy Bentley K, Rothenberg E, Moravec CS, Alexis JD, Gregorio CC, Dirksen RT, Delmar M, Small EM. Trembley MA, et al. Circulation. 2018 Oct 23;138(17):1864-1878. doi: 10.1161/CIRCULATIONAHA.117.031788. Circulation. 2018. PMID: 29716942 Free PMC article.
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