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
about
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine ReceptorFrom phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.Calcium Signaling and Cardiac Arrhythmias.A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest.CALMing Down Arrhythmogenic Calmodulinopathies via a Precision Medicine Approach.The Arrhythmogenic Calmodulin Mutation D129G Dysregulates Cell Growth, Calmodulin-dependent Kinase II Activity, and Cardiac Function in Zebrafish.A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.Cryo-EM Structure of a KCNQ1/CaM Complex Reveals Insights into Congenital Long QT Syndrome.Ion Channel Disorders and Sudden Cardiac Death.Modelling human calmodulinopathies with induced pluripotent stem cells: progress and challenges.
P2860
Q29347555-CF50E28A-F93F-444F-AA59-F2A6271D1B26Q37610015-4C80A17F-E16F-4FAE-AA24-37672DCB59F1Q38611619-728ECB28-788C-43A2-85FE-EB8C83877932Q39360546-2C463E22-CDE2-494B-9F10-67C447586354Q41885182-426AB3D4-6CCB-4DB9-8261-BD674F4D39A2Q46118392-C890B79D-7EC5-4C6B-9A11-82B50C9C1D36Q46179717-01AE486F-D2EE-4163-9507-9C03D2F29203Q47144880-FE9D2037-C8EB-4044-861D-D75E4B4B942EQ48232118-A82F5F4F-EFF8-4419-9E08-E2DD87D7123AQ50962093-35BD4FCE-7524-42FE-888B-90F082981C4AQ52679005-65EFE901-6198-4F62-A458-62837950FC67Q55060450-86A0EC3E-CC41-46BC-815C-E40690FD1612
P2860
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
description
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/04/01)
@nl
наукова стаття, опублікована у квітні 2016
@uk
مقالة علمية (نشرت في أبريل 2016)
@ar
name
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@ast
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@en
type
label
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@ast
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@en
prefLabel
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@ast
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@en
P2093
P2860
P1476
Spectrum and Prevalence of CAL ...... odulin Missense Variant, E141G
@en
P2093
Andrew L. Papez
Björn C. Knollmann
Christina G. Loporcaro
Christopher N. Johnson
David J. Tester
Dmytro O. Kryshtal
Hyun Seok Hwang
Maully Shah
Melissa L. Calvert
P2860
P304
P356
10.1161/CIRCGENETICS.115.001323
P577
2016-04-01T00:00:00Z