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Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
Estes SI, Ye D, Zhou W, Dotzler SM, Tester DJ, Bos JM, Kim CSJ, Ackerman MJ. Estes SI, et al. Among authors: kim csj. Circ Genom Precis Med. 2019 Aug;12(8):e002534. doi: 10.1161/CIRCGEN.119.002534. Epub 2019 Aug 20. Circ Genom Precis Med. 2019. PMID: 31430211 Free article.
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ, Kim CSJ, Hamrick SK, Ye D, O'Hare BJ, Bombei HM, Fitzgerald KK, Haglund-Turnquist CM, Atkins DL, Nunez LAO, Law I, Temple J, Ackerman MJ. Tester DJ, et al. Among authors: kim csj. JCI Insight. 2020 Aug 6;5(15):e135952. doi: 10.1172/jci.insight.135952. JCI Insight. 2020. PMID: 32663189 Free PMC article.
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.
Stutzman MJ, Kim CSJ, Tester DJ, Hamrick SK, Dotzler SM, Giudicessi JR, Miotto MC, Gc JB, Frank J, Marks AR, Ackerman MJ. Stutzman MJ, et al. Among authors: kim csj. Stem Cell Reports. 2022 Sep 13;17(9):2023-2036. doi: 10.1016/j.stemcr.2022.07.002. Epub 2022 Aug 4. Stem Cell Reports. 2022. PMID: 35931078 Free PMC article.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Tester DJ, et al. Among authors: kim csj. JAMA Cardiol. 2020 Mar 1;5(3):13-18. doi: 10.1001/jamacardio.2019.5400. JAMA Cardiol. 2020. PMID: 31913406 Free PMC article.
Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes.
Ye D, Zhou W, Hamrick SK, Tester DJ, Kim CSJ, Barajas-Martinez H, Hu D, Giudicessi JR, Antzelevitch C, Ackerman MJ. Ye D, et al. Among authors: kim csj. Circ Genom Precis Med. 2022 Oct;15(5):e003238. doi: 10.1161/CIRCGEN.120.003238. Epub 2022 Jul 12. Circ Genom Precis Med. 2022. PMID: 35861988 Free PMC article.
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