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6] Nonstandard abbreviations: ICC, inherited cardiac condition; FH, familial hypercholesterolemia; SCD, sudden cardiac death; CHD, coronary heart disease; HCM, hypertrophic cardiomyopathy; LV, left ventricular; DCM, dilated cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; RV, right ventricular; LQTS, long QT syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; LDL-C, LDL cholesterol; QTc, corrected QT; dHPLC, denaturing HPLC; NGS, next generation sequencing; WES, whole exome sequencing; WGS, whole genome sequencing; VUS, variant of unknown significance; ExAC, exome aggregation consortium; SNP, single nucleotide polymorphism.
5% DSC2 Desmocollin 2 <2% JUP Junction plakoglobin N/A LQTS KCNQ1 Potassium voltage-gated 40%-55% channel subfamily Q member 1 KCNH2 Potassium voltage-gated 35%-45% channel subfamily H member 2 SCN5A Sodium voltage-gated 2%-8% channel alpha subunit 5 Brugada SCN5A Sodium voltage-gated channel alpha subunit 5 CPVT RYR2 Ryanodine receptor 2 50% (cardiac) CASQ2 Calsequestrin 2 (cardiac N/A muscle) TRDN Triadin N/A CALM1 Calmodulin 1 (phosphorylase N/A kinase, delta) KCNJ2 Potassium voltage-gated N/A channel subfamily J member 2 FH LDLR Low density lipoprotein 70%-80% receptor APOB Apolipoprotein B 2%-7% PCSK9 Proprotein convertase <1% subtilisin/ kexin type 9 ICC Gene References HCM MYBPC3 Alfares et al.
To model CPVT in vivo, mice that had mutations in RyR2 or were CASQ2 knockouts were used.
This agreed with clinical data, according to which CPVT type II patients had bradycardia at rest.
Following WES and variant annotation, variant filtration involving the exclusion of all noncoding regions and synonymous variants (ie, a DNA nucleotide alteration that does not alter the amino acid sequence of the protein) and gene-specific surveillance of all known LQTS, CPVT, BrS, HCM, DCM, and ACM genes (90 total; Table 1 and Figure 1) were performed to identify possible pathogenic mutation(s).
London, Mar 30 (ANI): Vanderbilt University Medical Center researchers have found that a drug can prevent potentially lethal arrhythmias caused due to exercise or stress, called CPVT.
The addition of new genes to the FAMILION LQTS, CPVT and DCM panels is also a strong indication of the speed at which genetic discovery and validation of these markers is taking place, and PGxHealth's leadership and ability to bring these innovations to patients.
Objective: Solar Energy for Food IndustryProposal for the elaboration of a feasibility study, including a CPVT market study, for the application of concentrated PV-T solar energy and Large Thermal Storage (LTS) as support to the development of sustainable Food Security, through the construction of 2 CPVT demonstration plants in food-processing facilities in southern and northern Europe.
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