Documentos relacionados

1. RYR2-ryanodinopathies: from calcium overload to calcium deficiency.
2. A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia.
3. RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
4. The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca²⁺ and Mg².
5. Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants.
6. Cardiac ryanodine receptors: is a severe loss-of-function not so severe after all?
7. 50 Years of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - Time to Explore the Dark Side of the Moon.
8. The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
9. Unique genetic signature and selection footprints in Dutch population of German Longhaired Pointer dogs.
10. The reduced contraction capacity of palatopharyngeal muscle in OSAHS is related to the decreased intra-cellular [Ca²⁺] mediated by low RyR1 and DHPRα1s expression.