Our publications in Cardiogenetics

Over the past two years, our center has published the following scientific articles in international specialty journals:

Articles are available on PubMed Cardiogetics

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome.

Micaglio E, Monasky MM, Resta N, Bagnulo R, Ciconte G, Gianelli L, Locati ET, Vicedomini G, Borrelli V, Ghiroldi A, Anastasia L, Benedetti S, Di Resta C, Ferrari M, Pappone C.

Int J Mol Sci. 2019 Oct 4;20(19). pii: E4920. doi: 10.3390/ijms20194920.

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants.

Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D’Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C.

Europace. 2019 Jul 10. pii: euz186. doi: 10.1093/europace/euz186.

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype.

Micaglio E, Monasky MM, Ciconte G, Vicedomini G, Conti M, Mecarocci V, Giannelli L, Giordano F, Pollina A, Saviano M, Pozzi PR, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Pappone C.

Front Genet. 2019 Jun 6;10:547. doi: 10.3389/fgene.2019.00547. eCollection 2019.

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene.

Monasky MM, Micaglio E, Ciconte G, Benedetti S, Di Resta C, Vicedomini G, Borrelli V, Ghiroldi A, Piccoli M, Anastasia L, Santinelli V, Ferrari M, Pappone C.

Front Physiol. 2019 May 28;10:666. doi: 10.3389/fphys.2019.00666. eCollection 2019.

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis.

Micaglio E, Monasky MM, Ciconte G, Vicedomini G, Conti M, Mecarocci V, Giannelli L, Giordano F, Pollina A, Saviano M, Crisà S, Borrelli V, Ghiroldi A, D’Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C.

Front Genet. 2019 Feb 15;10:50. doi: 10.3389/fgene.2019.00050. eCollection 2019.

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

Sommariva E, Pappone C, Martinelli Boneschi F, Di Resta C, Rosaria Carbone M, Salvi E, Vergara P, Sala S, Cusi D, Ferrari M, Benedetti S.

Eur J Hum Genet. 2013 Sep;21(9):911-7. doi: 10.1038/ejhg.2012.289. Epub 2013 Jan 16.

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Marangoni S, Di Resta C, Rocchetti M, Barile L, Rizzetto R, Summa A, Severi S, Sommariva E, Pappone C, Ferrari M, Benedetti S, Zaza A.

Cardiovasc Res. 2011 Sep 1;91(4):606-16. doi: 10.1093/cvr/cvr142. Epub 2011 Jun 24.

New-onset atrial fibrillation as first clinical manifestation of latent Brugada syndrome: prevalence and clinical significance.

Pappone C, Radinovic A, Manguso F, Vicedomini G, Sala S, Sacco FM, Ciconte G, Saviano M, Ferrari M, Sommariva E, Sacchi S, Ciaccio C, Kallergis EM, Santinelli V.

Eur Heart J. 2009 Dec;30(24):2985-92. doi: 10.1093/eurheartj/ehp326.

Natural history of Brugada syndrome: insights for risk stratification and management.

Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, Bloise R, Giustetto C, De Nardis R, Grillo M, Ronchetti E, Faggiano G, Nastoli J.

Circulation. 2002 Mar 19;105(11):1342-7.

Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families.

Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Brignole M, Giordano U, Giovannini T, Menozzi C, Bloise R, Crotti L, Terreni L, Schwartz PJ.

Circulation. 2000 Nov 14;102(20):2509-15.

Functional effects of periodic tryptophan substitutions in the alpha M4 transmembrane domain of the Torpedo californica nicotinic acetylcholine receptor.

Tamamizu S, Guzmán GR, Santiago J, Rojas LV, McNamee MG, Lasalde-Dominicci JA.

Biochemistry. 2000 Apr 25;39(16):4666-73.

Membrane responses to extracellular ATP in rat isolated white adipocytes.

Lee SC, Pappone PA.

Pflugers Arch. 1997 Aug;434(4):422-8.

Mutations in the M4 domain of the Torpedo californica nicotinic acetylcholine receptor alter channel opening and closing.

Ortiz-Miranda SI, Lasalde JA, Pappone PA, McNamee MG.

J Membr Biol. 1997 Jul 1;158(1):17-30.

Ossification of the posterior longitudinal ligament in one of a pair of identical twins concordant for ankylosing spondylitis.

Olivieri I, Pappone N, Padula A, Rengo C, Ruju GP, Pucino A, Trippi D, Ferri S, Pasero G.

Clin Rheumatol. 1994 Jun;13(2):309-11.

Mutations in the M4 domain of Torpedo californica acetylcholine receptor dramatically alter ion channel function.

Lee YH, Li L, Lasalde J, Rojas L, McNamee M, Ortiz-Miranda SI, Pappone P.

Biophys J. 1994 Mar;66(3 Pt 1):646-53.

Site-specific mutations of nicotinic acetylcholine receptor at the lipid-protein interface dramatically alter ion channel gating.

Li L, Lee YH, Pappone P, Palma A, McNamee MG.

Biophys J. 1992 Apr;62(1):61-3. No abstract available.

Effects of pH on acetylcholine receptor function.

Palma A, Li L, Chen XJ, Pappone P, McNamee M.

J Membr Biol. 1991 Feb;120(1):67-73.