Keywords: Brugada syndrome; Channelopathy; Genetic testing; Nav1.5; SCN5A;
مقالات ISI (ترجمه نشده)
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Keywords: Brugada Syndrome; Tissue Velocity Imaging; Gender; Conduction delay; Syncope; SCN5A;
Keywords: BrS, Brugada syndrome; ECG, electrocardiogram/electrocardiographic; FM, family member; ICS, intercostal space; MC, mutation carrier; RVOT, right ventricular outflow tractBrugada syndrome; Electrocardiography; Echocardiography; Diagnostic criteria; SCN5A
Keywords: Sodium channel; SCN5A; Mutation; Sudden cardiac death; Arrhythmia; Brugada syndrome; Long QT syndrome type 3 (LQT3); Sodium channel overlap syndrome;
Keywords: KCNQ1; KCNH2; SCN5A; Mutations; Novel; India
SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers
Keywords: Brugada syndrome; SCN5A; Mutation; Ajmaline; PVC; Arrhythmia;
Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D)
Keywords: AF; atrial fibrillation; DCM; dilated cardiomyopathy; ECG; electrocardiogram; EPS; electrophysiological study; LA; left atrium; LV; left ventricle; LVEF; left ventricular ejection fraction; MEPPC; multifocal ectopic Purkinje-related premature contractions
Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Nav1.5
Keywords: SAR1A and SAR1B; SCN5A; Nav1.5 sodium channel; MOG1; Trafficking;
Beauty and the beat: A complicated case of multifocal ectopic Purkinje-related premature contractions
Keywords: Amiodarone; Cardiomyopathy; Premature ventricular contractions; SCN5A; Sudden cardiac death; Torsades de pointes;
Copy number variations of SCN5A in Brugada syndrome
Keywords: Brugada syndrome; Copy number variation; Deletion; Duplication; Multiplex ligation-dependent probe amplification; SCN5A;
Identification of circular RNAs in human aortic valves
Keywords: AGO; argonaute; ANK3; ankyrin 3; BAV; bicuspid aortic valve; CASP3; Caspase-3; circRNA; circular RNA; COL6A6; collagen, type VI, alpha 6; ECM; extracellular matrix; ERBB4; V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4; FBN; fibrillin 1;
Arrhythmias precede cardiomyopathy and remodeling of Ca2+ handling proteins in a novel model of long QT syndrome
Keywords: Scn5a; Long QT syndrome; Arrhythmias; Intracellular Ca2+ homeostasis; Structural defects;
Original ArticleCardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation
Keywords: SCN5A; Overlap syndrome; Children; Pilsicainide challenge test;
Abnormal sodium channel mRNA splicing in hypertrophic cardiomyopathy
Keywords: Sodium channels; Hypertrophic cardiomyopathy; Sudden cardiac death; Human; SCN5A; Perk; Splicing variants;
Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation
Keywords: SCN5A; the gene encoding the α-subunit of the cardiac sodium channel; NaV1.5; cardiac sodium channel; AF; atrial fibrillation; AP; action potential; ECG; electrocardiogram; HEK; human embryonic kidney cell; INa; voltage gated sodium current; MRI; magneti
Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene
Keywords: SCN5A; Long QT syndrome; Brugada syndrome; Promoter; Sudden death;
Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification
Keywords: Brugada syndrome; Sudden cardiac death; Early repolarization syndrome; Inherited cardiac arrhythmia; Implantable cardioverter-defibrillator; SCN5A;
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction
Keywords: Mutation; HCN4; Pacemaker; Sick sinus syndrome; Left ventricular noncompaction; SCN5A; Atrial fibrillation;
(Re-)programming of subtype specific cardiomyocytes
Keywords: ADSC; adipose tissue-derived mesenchymal stem cell; Alcam; activated leukocyte cell adhesion molecule; AMI; acute myocardial infarction; ANF; natriuretic factor; AP; action potential; ASC; adult stem cell; AV; atrioventricular; AVB; atrioventricular bundl
Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death
Keywords: Gender differences; Genetics; SCN5A; Sudden cardiac death; Ventricular fibrillation;
Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel
Keywords: Long QT syndrome; Long QT syndrome type 3; Lidocaine attenuation test; VUS; SCN5A;
Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene
Keywords: Brugada syndrome; MLPA; SCN5A; Ventricular fibrillation;
Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3
Keywords: beta-blocker; mutation; SCN5A; sodium channel; sudden cardiac death; CI; confidence interval; ECG; electrocardiogram; LQT3; long QT syndrome type 3; LQTS; long QT syndrome;
Misexpression of Tbx18 in cardiac chambers of fetal mice interferes with chamber-specific developmental programs but does not induce a pacemaker-like gene signature
Keywords: ASD; atrial septal defects; AP; action potential; AVN; atrioventricular node; ChIP-Seq; chromatin immunoprecipitation-sequencing; Cx; Connexin; DAPI; 4,6-diamidino-2-phenylindol; E; embryonic day; FC; fold change; Gapdh; glyceraldehyde-3-phosphate dehydro
IRX3 variant as a modifier of Brugada syndrome with frequent ventricular fibrillation
Keywords: Brugada syndrome; Genes; IRX3; SCN5A; Ventricular fibrillation;
Short communicationComplex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy
Keywords: SCN8A; Epileptic encephalopathy; SCN5A; fQRS; Mosaicism;
Overexpression of SCN5A in mouse heart mimics human syndrome of enhanced atrioventricular nodal conduction
Keywords: A-H; atrial-to-His; A-V; atrioventricular; AV-ERP; atrioventricular effective refractory period; CL; cycle length; EAVNC; enhanced atrioventricular nodal conduction; ECG; electrocardiogram; H-V; His-to-ventricular; INa; sodium current; LGL; Lown-Ganong-Le
Mutational analysis of SCN5A gene in long QT syndrome
Keywords: LQTS, Long QT syndrome; cLQTS, Congenital long QT syndrome; FDRs, First degree relatives; LQT3, Long QT syndrome type-3; SCN5A, Sodium channel, voltage-gated, type V, alpha subunitLQTS; SCN5A; Polymorphisms; Compound heterozygotes
Post-transcriptional regulation of cardiac sodium channel gene SCN5A expression and function by miR-192-5p
Keywords: Atrial fibrillation; Cardiac sodium channel Nav1.5; SCN5A; MicroRNA; MiR-192-5p
Regulation of SCN5A by microRNAs: miR-219 modulates SCN5A transcript expression and the effects of flecainide intoxication in mice
Keywords: ANOVA; analysis of variance; AP; action potential; ECG; electrocardiogram/electrocardiographic; GFP; green fluorescent protein; INa; sodium current; LQTS; long QT syndrome; qPCR; quantitative polymerase chain reaction; MicroRNAs; SCN5A; Posttranscriptiona
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology
Keywords: Cardiac sodium channel; Channelopathies; Nav1.5; SCN5A; Sodium channel kinetics; Nav1.5 biology;
Fever-induced atrial flutter associated with SCN5A mutation-A first report on successful catheter ablation in a very young child
Keywords: SCN5A; Fever-induced atrial flutter; Catheter ablation; Child;
Dilated Cardiomyopathy and Nav1.5
Keywords: Non-ischemic DCM; SCN5A; Nav1.5; Progressive conduction defect; Cardiac remodeling; Cardiac resynchronization therapy; CRT; Heart transplantation;
Atrial Fibrillation and SCN5A Variants
Keywords: Atrial fibrillation; SCN5A mutations; Electrophysiology; SCN5A; Gain of function; Loss of function; Action potential; “Two-hit” hypothesis;
Conduction Disorders and Nav1.5
Keywords: Atrioventricular block; Cardiac conduction disease; Lev/Lenègre disease; SCN5A; Nav1.5; Channelopathy; Inherited arrhythmia disorder;
A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation
Keywords: AF; atrial fibrillation; AP; action potential; BrS; Brugada syndrome; GFP; green fluorescent protein; HEK293; human embryonic kidney 293; HP; holding potential; INa; inward sodium current; LQTS; long QT syndrome; SNP; single nucleotide polymorphism; SSS;
Sfmbt2 10th intron-hosted miR-466(a/e)-3p are important epigenetic regulators of Nfat5 signaling, osmoregulation and urine concentration in mice
Keywords: 3â²UTR; 3â²-untranslated region; AVP; arginine vasopressin; Aqp1/2/3; aquaporin-1/2/3; Ar; aldose reductase; Cdkn1c or p57; Cyclin-dependent kinase inhibitor 1C; C2MC; Chromosome 2 miRNA cluster; Dcx; Doublecortin; ddAVP; 1-desamino-8-d-arginine vasopre
Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia
Keywords: SCN5A; Mutation; Common variants; Rare cardiac disorders; Channelopathy; GWAS; Polymorphisms; Noncoding region;
Diseases Caused by Mutations in Nav1.5 Interacting Proteins
Keywords: Arrhythmia; Macromolecular complex; Long QT syndrome; Brugada syndrome; Sudden infant death syndrome; Cardiomyopathy; Late sodium current; SCN5a;
Short communicationCoexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation
Keywords: Brugada syndrome; Epilepsy; Syncope; SCN5A; Channelopathy;
Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome
Keywords: AV block; Atrio-ventricular block; Bpm; Beats per minute; BrS; Brugada syndrome; CCD; Cardiac conduction defects; ECG; Electrocardiogram; HR; Heart rate; ICD; Implantable cardioverter defibrillator; K; Slope factor; LQTS; Long QT syndrome; QTc; QT interva
Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells
Keywords: Long QT syndrome; Cardiomyocytes; Induced pluripotent stem cells; SCN5A; Sodium channel;
Channelopathies from mutations in the cardiac sodium channel protein complex
Keywords: Sodium current; SCN5A; Arrhythmia; Long QT syndrome; Brugada Syndrome; SIDS;
A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
Keywords: ECG; electrocardiogram; LQTS; long QT syndrome; PAS; Per-Arnt-Sim; QTc; corrected QT interval; QTcb; QTc rectified using Bazett's formula; Digenic mutation; Compound mutation; KCNH2; SCN5A; KCNE1; molecular screening;
Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A
Keywords: Progressive cardiac conduction defect; SCN5A; Ventricular fibrillation; Sudden cardiac death; Electrophysiology
Genetic basis of Brugada syndrome
Keywords: Brugada syndrome; Gene mutations; SCN5A; Overlap syndrome
Analysis of the arrhythmogenic substrate in human heart failure
Keywords: Heart failure; mRNA; SCN5A; KCND3; Real Time PCR; Ischemia; Fibrosis
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1
Keywords: Myotonic dystrophy type 1; Brugada syndrome; SCN5A; Cardiac sodium channel Na(v)1.5; Human; Alternative splicingDystrophie myotonique de type 1; Syndrome de Brugada; SCN5A; Canal sodique cardiaque humain Na(v)1.5; Épissage alternatifcDNA, complementary de
Diagnostic criteria for the Brugada syndrome: Can they be improved?
Keywords: Brugada syndrome; Diagnostic score; SCN5A geneSíndrome de Brugada; Score diagnóstico; SCN5A
Quantification of gastrointestinal sodium channelopathy
Keywords: Ion channel; Markov; SCN5A; Computer model; Motility disorder;