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Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr. Makita N, et al. Among authors: johnson cn. Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10. Circ Cardiovasc Genet. 2014. PMID: 24917665 Free PMC article.
Calmodulin mutations associated with recurrent cardiac arrest in infants.
Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr. Crotti L, et al. Among authors: johnson cn. Circulation. 2013 Mar 5;127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216. Epub 2013 Feb 6. Circulation. 2013. PMID: 23388215 Free PMC article.
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ. Boczek NJ, et al. Among authors: johnson cn. Circ Cardiovasc Genet. 2016 Apr;9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11. Circ Cardiovasc Genet. 2016. PMID: 26969752 Free PMC article.
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr. Pipilas DC, et al. Among authors: johnson cn. Heart Rhythm. 2016 Oct;13(10):2012-9. doi: 10.1016/j.hrthm.2016.06.038. Epub 2016 Jul 1. Heart Rhythm. 2016. PMID: 27374306 Free PMC article.
Genetic Mosaicism in Calmodulinopathy.
Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Wren LM, et al. Among authors: johnson cn. Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27. Circ Genom Precis Med. 2019. PMID: 31454269 Free PMC article.
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC. Gomez-Hurtado N, et al. Among authors: johnson cn. Circ Arrhythm Electrophysiol. 2016 Aug;9(8):10.1161/CIRCEP.116.004161 e004161. doi: 10.1161/CIRCEP.116.004161. Circ Arrhythm Electrophysiol. 2016. PMID: 27516456 Free PMC article.
A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.
Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL Jr, Chazin WJ. Johnson CN, et al. Structure. 2018 May 1;26(5):683-694.e3. doi: 10.1016/j.str.2018.03.005. Epub 2018 Apr 5. Structure. 2018. PMID: 29606593 Free PMC article.
307 results