Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin (CaM) Variants in Long QT Syndrome (LQTS) and Functional Characterization of a Novel LQTS-Associated CaM Missense Variant, E141G

BACKGROUND: Calmodulin (CaM) is encoded by three genes, CALM1, CALM2, and CALM3, all of which harbor pathogenic variants linked to long QT syndrome (LQTS) with early and severe expressivity. These LQTS-causative variants reduce CaM affinity to Ca(2+) and alter the properties of the cardiac L-type ca...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Circ Cardiovasc Genet
Prif Awduron: Boczek, Nicole J., Gomez-Hurtado, Nieves, Ye, Dan, Calvert, Melissa L., Tester, David J., Kryshtal, Dmytro, Hwang, Hyun Seok, Johnson, Christopher N., Chazin, Walter J., Loporcaro, Christina G., Shah, Maully, Papez, Andrew L., Lau, Yung R., Kanter, Ronald, Knollmann, Bjorn C., Ackerman, Michael J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4907364/
https://ncbi.nlm.nih.gov/pubmed/26969752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001323
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