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Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.
Watanabe H, Yang T, Stroud DM, Lowe JS, Harris L, Atack TC, Wang DW, Hipkens SB, Leake B, Hall L, Kupershmidt S, Chopra N, Magnuson MA, Tanabe N, Knollmann BC, George AL Jr, Roden DM. Watanabe H, et al. Circulation. 2011 Aug 30;124(9):1001-11. doi: 10.1161/CIRCULATIONAHA.110.987248. Epub 2011 Aug 8. Circulation. 2011. PMID: 21824921 Free PMC article.
Azithromycin Causes a Novel Proarrhythmic Syndrome.
Yang Z, Prinsen JK, Bersell KR, Shen W, Yermalitskaya L, Sidorova T, Luis PB, Hall L, Zhang W, Du L, Milne G, Tucker P, George AL Jr, Campbell CM, Pickett RA, Shaffer CM, Chopra N, Yang T, Knollmann BC, Roden DM, Murray KT. Yang Z, et al. Circ Arrhythm Electrophysiol. 2017 Apr;10(4):e003560. doi: 10.1161/CIRCEP.115.003560. Circ Arrhythm Electrophysiol. 2017. PMID: 28408648 Free PMC article.
High-Throughput Reclassification of SCN5A Variants.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. Glazer AM, et al. Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12. Am J Hum Genet. 2020. PMID: 32533946 Free PMC article.
Dominant negative effects of SCN5A missense variants.
O'Neill MJ, Muhammad A, Li B, Wada Y, Hall L, Solus JF, Short L, Roden DM, Glazer AM. O'Neill MJ, et al. Genet Med. 2022 Jun;24(6):1238-1248. doi: 10.1016/j.gim.2022.02.010. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305865 Free PMC article.
191 results