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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. Among authors: lin b, lin x. Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234. Cardiovasc Res. 2017. PMID: 28069705 Free PMC article.
Deletion of the last five C-terminal amino acid residues of connexin43 leads to lethal ventricular arrhythmias in mice without affecting coupling via gap junction channels.
Lübkemeier I, Requardt RP, Lin X, Sasse P, Andrié R, Schrickel JW, Chkourko H, Bukauskas FF, Kim JS, Frank M, Malan D, Zhang J, Wirth A, Dobrowolski R, Mohler PJ, Offermanns S, Fleischmann BK, Delmar M, Willecke K. Lübkemeier I, et al. Among authors: lin x. Basic Res Cardiol. 2013 May;108(3):348. doi: 10.1007/s00395-013-0348-y. Epub 2013 Apr 5. Basic Res Cardiol. 2013. PMID: 23558439 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. Among authors: lin x. 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.
Super-resolution imaging reveals that loss of the C-terminus of connexin43 limits microtubule plus-end capture and NaV1.5 localization at the intercalated disc.
Agullo-Pascual E, Lin X, Leo-Macias A, Zhang M, Liang FX, Li Z, Pfenniger A, Lübkemeier I, Keegan S, Fenyö D, Willecke K, Rothenberg E, Delmar M. Agullo-Pascual E, et al. Among authors: lin x. Cardiovasc Res. 2014 Nov 1;104(2):371-81. doi: 10.1093/cvr/cvu195. Epub 2014 Aug 18. Cardiovasc Res. 2014. PMID: 25139742 Free PMC article.
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