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362 results

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Page 1
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Clatot J, et al. Among authors: george al jr. Epilepsia. 2024 Dec 21. doi: 10.1111/epi.18234. Online ahead of print. Epilepsia. 2024. PMID: 39707911
Transient titin-dependent ventricular defects during development lead to adult atrial arrhythmia and impaired contractility.
Jiang X, Ly OT, Chen H, Zhang Z, Ibarra BA, Pavel MA, Brown GE, Sridhar A, Tofovic D, Swick A, Marszalek R, Vanoye CG, Navales F, George AL Jr, Khetani SR, Rehman J, Gao Y, Darbar D, Saxena A. Jiang X, et al. Among authors: george al jr. iScience. 2024 Jun 27;27(7):110395. doi: 10.1016/j.isci.2024.110395. eCollection 2024 Jul 19. iScience. 2024. PMID: 39100923 Free PMC article.
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB, Cornett SL, Wang LA, Jo S, Brünger T, Budnik N, Hegde M, DeKeyser JM, Thompson CH, Doench JG, Lal D, George AL Jr, Pan JQ. Pablo JLB, et al. Among authors: george al jr. Cell Rep. 2024 Jun 25;43(6):114327. doi: 10.1016/j.celrep.2024.114327. Epub 2024 May 31. Cell Rep. 2024. PMID: 38823014 Free PMC article. No abstract available.
Molecular and cellular context influences SCN8A variant function.
Vanoye CG, Abramova TV, DeKeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL Jr. Vanoye CG, et al. Among authors: george al jr. JCI Insight. 2024 May 21;9(12):e177530. doi: 10.1172/jci.insight.177530. JCI Insight. 2024. PMID: 38771640 Free PMC article.
Susceptibility to innate immune activation in genetically mediated myocarditis.
Selgrade DF, Fullenkamp DE, Chychula IA, Li B, Dellefave-Castillo L, Dubash AD, Ohiri J, Monroe TO, Blancard M, Tomar G, Holgren C, Burridge PW, George AL Jr, Demonbreun AR, Puckelwartz MJ, George SA, Efimov IR, Green KJ, McNally EM. Selgrade DF, et al. Among authors: george al jr. J Clin Invest. 2024 May 16;134(13):e180254. doi: 10.1172/JCI180254. J Clin Invest. 2024. PMID: 38768074 Free PMC article.
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Ohiri JC, Dellefave-Castillo L, Tomar G, Wilsbacher L, Choudhury L, Barefield DY, Fullenkamp D, Gacita AM, Monroe TO, Pesce L, Blancard M, Vaught L, George AL Jr, Demonbreun AR, Puckelwartz MJ, McNally EM. Ohiri JC, et al. Among authors: george al jr. J Am Heart Assoc. 2024 May 21;13(10):e030467. doi: 10.1161/JAHA.123.030467. Epub 2024 May 18. J Am Heart Assoc. 2024. PMID: 38761081 Free PMC article.
362 results