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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati… See abstract for full author list ➔ Barc J, et al. Among authors: torchio m. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Crotti L, et al. Among authors: torchio m. J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8. doi: 10.1016/j.jacc.2012.04.037. Epub 2012 Jul 25. J Am Coll Cardiol. 2012. PMID: 22840528 Free PMC article.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Among authors: torchio m. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
FGF12 is a candidate Brugada syndrome locus.
Hennessey JA, Marcou CA, Wang C, Wei EQ, Wang C, Tester DJ, Torchio M, Dagradi F, Crotti L, Schwartz PJ, Ackerman MJ, Pitt GS. Hennessey JA, et al. Among authors: torchio m. Heart Rhythm. 2013 Dec;10(12):1886-94. doi: 10.1016/j.hrthm.2013.09.064. Epub 2013 Oct 4. Heart Rhythm. 2013. PMID: 24096171 Free PMC article.
A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
Savastano S, Rordorf R, Vicentini A, Petracci B, Taravelli E, Castelletti S, D'Errico A, Torchio M, Dossena C, Novara P, Dagradi F, Landolina M, Spazzolini C, Crotti L, Schwartz PJ. Savastano S, et al. Among authors: torchio m. Heart Rhythm. 2014 Jul;11(7):1176-83. doi: 10.1016/j.hrthm.2014.04.010. Epub 2014 Apr 8. Heart Rhythm. 2014. PMID: 24721456
Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.
Boczek NJ, Ye D, Johnson EK, Wang W, Crotti L, Tester DJ, Dagradi F, Mizusawa Y, Torchio M, Alders M, Giudicessi JR, Wilde AA, Schwartz PJ, Nerbonne JM, Ackerman MJ. Boczek NJ, et al. Among authors: torchio m. Circ Res. 2014 Aug 1;115(4):460-9. doi: 10.1161/CIRCRESAHA.115.303657. Epub 2014 Jun 24. Circ Res. 2014. PMID: 24963029 Free PMC article.
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium; Jamshidi Y. Behr ER, et al. Among authors: torchio m. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17. Cardiovasc Res. 2015. PMID: 25691538 Free PMC article.
Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy.
Maurizi N, Rella V, Fumagalli C, Salerno S, Castelletti S, Dagradi F, Torchio M, Marceca A, Meda M, Gasparini M, Boschi B, Girolami F, Parati G, Olivotto I, Crotti L, Cecchi F. Maurizi N, et al. Among authors: torchio m. Int J Cardiol. 2020 Feb 1;300:191-195. doi: 10.1016/j.ijcard.2019.07.051. Epub 2019 Jul 17. Int J Cardiol. 2020. PMID: 31371117
Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk.
Musa H, Marcou CA, Herron TJ, Makara MA, Tester DJ, O'Connell RP, Rosinski B, Guerrero-Serna G, Milstein ML, Monteiro da Rocha A, Ye D, Crotti L, Nesterenko VV, Castelletti S, Torchio M, Kotta MC, Dagradi F, Antzelevitch C, Mohler PJ, Schwartz PJ, Ackerman MJ, Anumonwo JM. Musa H, et al. Among authors: torchio m. Am J Physiol Heart Circ Physiol. 2020 Jun 1;318(6):H1357-H1370. doi: 10.1152/ajpheart.00481.2019. Epub 2020 Mar 20. Am J Physiol Heart Circ Physiol. 2020. PMID: 32196358 Free PMC article.
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD, Tanck MW, Mizusawa Y, Batchvarov V, Barc J, Crotti L, Bos JM, Tester DJ, Muir A, Veltmann C, Ohno S, Page SP, Galvin J, Tadros R, Muggenthaler M, Raju H, Denjoy I, Schott JJ, Gourraud JB, Skoric-Milosavljevic D, Nannenberg EA, Redon R, Papadakis M, Kyndt F, Dagradi F, Castelletti S, Torchio M, Meitinger T, Lichtner P, Ishikawa T, Wilde AAM, Takahashi K, Sharma S, Roden DM, Borggrefe MM, McKeown PP, Shimizu W, Horie M, Makita N, Aiba T, Ackerman MJ, Schwartz PJ, Probst V, Bezzina CR, Behr ER. Wijeyeratne YD, et al. Among authors: torchio m. Circ Genom Precis Med. 2020 Dec;13(6):e002911. doi: 10.1161/CIRCGEN.120.002911. Epub 2020 Nov 9. Circ Genom Precis Med. 2020. PMID: 33164571 Free PMC article.
89 results