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A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP. Murray B, et al. Among authors: amat alarcon n. Am J Med Genet A. 2013 Feb;161A(2):371-6. doi: 10.1002/ajmg.a.35733. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307527
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. den Haan AD, et al. Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3. Circ Cardiovasc Genet. 2009. PMID: 20031617 Free PMC article.
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Shenje LT, et al. Among authors: amat alarcon n. Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416. Nat Commun. 2014. PMID: 24595103 Free PMC article.
Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy.
Chelko SP, Asimaki A, Andersen P, Bedja D, Amat-Alarcon N, DeMazumder D, Jasti R, MacRae CA, Leber R, Kleber AG, Saffitz JE, Judge DP. Chelko SP, et al. Among authors: amat alarcon n. JCI Insight. 2016 Apr 21;1(5):e85923. doi: 10.1172/jci.insight.85923. JCI Insight. 2016. PMID: 27170944 Free PMC article.
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: amat alarcon n. Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234. Cardiovasc Res. 2017. PMID: 28069705 Free PMC article.
Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice.
Rouf R, MacFarlane EG, Takimoto E, Chaudhary R, Nagpal V, Rainer PP, Bindman JG, Gerber EE, Bedja D, Schiefer C, Miller KL, Zhu G, Myers L, Amat-Alarcon N, Lee DI, Koitabashi N, Judge DP, Kass DA, Dietz HC. Rouf R, et al. Among authors: amat alarcon n. JCI Insight. 2017 Aug 3;2(15):e91588. doi: 10.1172/jci.insight.91588. eCollection 2017 Aug 3. JCI Insight. 2017. PMID: 28768908 Free PMC article.
Therapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy.
Chelko SP, Asimaki A, Lowenthal J, Bueno-Beti C, Bedja D, Scalco A, Amat-Alarcon N, Andersen P, Judge DP, Tung L, Saffitz JE. Chelko SP, et al. Among authors: amat alarcon n. Circulation. 2019 Oct 29;140(18):1491-1505. doi: 10.1161/CIRCULATIONAHA.119.040676. Epub 2019 Sep 19. Circulation. 2019. PMID: 31533459 Free PMC article.
12 results