These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. 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 Heart Rhythm; 2016 Oct; 13(10):2012-9. PubMed ID: 27374306 [TBL] [Abstract][Full Text] [Related]
9. Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel. McCormick L; Wadmore K; Milburn A; Gupta N; Morris R; Held M; Prakash O; Carr J; Barrett-Jolley R; Dart C; Helassa N J Physiol; 2023 Sep; 601(17):3739-3764. PubMed ID: 37428651 [TBL] [Abstract][Full Text] [Related]
10. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Tester DJ; Kopplin LJ; Will ML; Ackerman MJ Heart Rhythm; 2005 Oct; 2(10):1099-105. PubMed ID: 16188589 [TBL] [Abstract][Full Text] [Related]
11. Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish. Da'as SI; Thanassoulas A; Calver BL; Beck K; Salem R; Saleh A; Kontogianni I; Al-Maraghi A; Nasrallah GK; Safieh-Garabedian B; Toft E; Nounesis G; Lai FA; Nomikos M Ann N Y Acad Sci; 2019 Jul; 1448(1):19-29. PubMed ID: 30937913 [TBL] [Abstract][Full Text] [Related]
17. Calmodulin Mutations in Human Disease. Hussey JW; Limpitikul WB; Dick IE Channels (Austin); 2023 Dec; 17(1):2165278. PubMed ID: 36629534 [TBL] [Abstract][Full Text] [Related]
18. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. Landstrom AP; Boczek NJ; Ye D; Miyake CY; De la Uz CM; Allen HD; Ackerman MJ; Kim JJ Int J Cardiol; 2016 Oct; 220():290-8. PubMed ID: 27390944 [TBL] [Abstract][Full Text] [Related]
19. Single Construct Suppression and Replacement Gene Therapy for the Treatment of All Hamrick SK; Kim CSJ; Tester DJ; Gencarelli M; Tobert KE; Gluscevic M; Ackerman MJ Circ Arrhythm Electrophysiol; 2024 Aug; 17(8):e012036. PubMed ID: 39069900 [TBL] [Abstract][Full Text] [Related]
20. Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. Yamamoto Y; Makiyama T; Harita T; Sasaki K; Wuriyanghai Y; Hayano M; Nishiuchi S; Kohjitani H; Hirose S; Chen J; Yokoi F; Ishikawa T; Ohno S; Chonabayashi K; Motomura H; Yoshida Y; Horie M; Makita N; Kimura T Hum Mol Genet; 2017 May; 26(9):1670-1677. PubMed ID: 28335032 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]