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Page 1
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L. Gerull B, et al. Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489853
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators. Xu T, et al. J Am Coll Cardiol. 2010 Feb 9;55(6):587-97. doi: 10.1016/j.jacc.2009.11.020. J Am Coll Cardiol. 2010. PMID: 20152563 Free PMC article.
Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N. Antoniades L, et al. Eur Heart J. 2006 Sep;27(18):2208-16. doi: 10.1093/eurheartj/ehl184. Epub 2006 Aug 7. Eur Heart J. 2006. PMID: 16893920
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P. Fressart V, et al. Europace. 2010 Jun;12(6):861-8. doi: 10.1093/europace/euq104. Epub 2010 Apr 16. Europace. 2010. PMID: 20400443
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN. Cox MG, et al. Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23. Circulation. 2011. PMID: 21606396
15 results