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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. 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.
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. Hennessey JA, et al. Among authors: boczek nj. PLoS One. 2014 Sep 3;9(9):e106982. doi: 10.1371/journal.pone.0106982. eCollection 2014. PLoS One. 2014. PMID: 25184293 Free PMC article.
CALM3 mutation associated with long QT syndrome.
Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ. Reed GJ, et al. Among authors: boczek nj. Heart Rhythm. 2015 Feb;12(2):419-22. doi: 10.1016/j.hrthm.2014.10.035. Epub 2014 Oct 31. Heart Rhythm. 2015. PMID: 25460178 Free PMC article. No abstract available.
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
Boczek NJ, Ye D, Jin F, Tester DJ, Huseby A, Bos JM, Johnson AJ, Kanter R, Ackerman MJ. Boczek NJ, et al. Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1122-32. doi: 10.1161/CIRCEP.115.002745. Epub 2015 Aug 7. Circ Arrhythm Electrophysiol. 2015. PMID: 26253506 Free PMC article.
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL, Ye D, Boczek NJ, Tester DJ, Gavrilova RH, Patterson MC, Wieben ED, Ackerman MJ. Weyhrauch DL, et al. Among authors: boczek nj. Pediatr Neurol. 2016 Feb;55:46-51. doi: 10.1016/j.pediatrneurol.2015.10.014. Epub 2015 Nov 6. Pediatr Neurol. 2016. PMID: 26739101
56 results