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Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A. Beffagna G, et al. Among authors: occhi g. BMC Med Genet. 2007 Oct 26;8:65. doi: 10.1186/1471-2350-8-65. BMC Med Genet. 2007. PMID: 17963498 Free PMC article.
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. Lorenzon A, et al. Among authors: occhi g. Am J Cardiol. 2015 Oct 15;116(8):1245-51. doi: 10.1016/j.amjcard.2015.07.037. Epub 2015 Jul 28. Am J Cardiol. 2015. PMID: 26310507
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
Pilichou K, Lazzarini E, Rigato I, Celeghin R, De Bortoli M, Perazzolo Marra M, Cason M, Jongbloed J, Calore M, Rizzo S, Regazzo D, Poloni G, Iliceto S, Daliento L, Delise P, Corrado D, Van Tintelen JP, Thiene G, Rampazzo A, Basso C, Bauce B, Lorenzon A, Occhi G. Pilichou K, et al. Among authors: occhi g. Circ Arrhythm Electrophysiol. 2017 Oct;10(10):e005324. doi: 10.1161/CIRCEP.117.005324. Circ Arrhythm Electrophysiol. 2017. PMID: 29038103
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy.
Poloni G, Calore M, Rigato I, Marras E, Minervini G, Mazzotti E, Lorenzon A, Li Mura IEA, Telatin A, Zara I, Simionati B, Perazzolo Marra M, Ponti J, Occhi G, Vitiello L, Daliento L, Thiene G, Basso C, Corrado D, Tosatto S, Bauce B, Rampazzo A, De Bortoli M. Poloni G, et al. Among authors: occhi g. Heart Rhythm. 2019 May;16(5):773-780. doi: 10.1016/j.hrthm.2018.11.015. Epub 2018 Nov 17. Heart Rhythm. 2019. PMID: 30453078
82 results