Publications by authors named "A N Boĭtsov"
Genetic variants in gene were identified in patients with various arrhythmogenic conditions including Brugada syndrome. Despite significant progress of last decades in studying the molecular mechanism of arrhythmia-associated mutations, the understanding of relationship between genetics, electrophysiological consequences and clinical phenotype is lacking. We have found a novel genetic variant Y739D in the encoded sodium channel Na1.
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- The study investigates how mutations in voltage sensors affect ion channel behavior, particularly in the hNa1.5 channel linked to cardiac arrhythmias.
- Variants of interest include E1230K, E1295K, and R1739W/Q, causing dysfunctions that likely stem from their effects on protein interactions at the interface between important structural domains.
- Biophysical analysis of generated mutants revealed that certain mutations altered inactivation properties of the channel, impacting its performance and stability, potentially contributing to the understanding of disease mechanisms.
This study is a survey of in vivo experiments on transfection of laboratory mouse muscle fibers by electroporation using an original device generating electric impulses. Transfection efficiency proved to depend on DNA dose and the number of electric impulses. It can be increased significantly by electroporation at varying pulse burst polarity.
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