Keywords: سندرم تیموتی; hypoglycemia; sudden cardiac death; syndactyly; Timothy syndrome; T-wave alternans; ventricular fibrillation; ACA; aborted cardiac arrest; AED; automatic external defibrillator; AV; atrioventricular; CHD; congenital heart disease; CIED; cardiac implantabl
مقالات ISI سندرم تیموتی (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندرم تیموتی; EKG; pediatric; syndactyly; timothy syndrome
Keywords: سندرم تیموتی; Autism spectrum disorders; Stem cells; Induced pluripotent stem cells; Animal model; Fragile X syndrome; Rett syndrome; Angelman syndrome; Timothy syndrome; Genomic editing
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
Keywords: سندرم تیموتی; Electrophysiology; Genetics; Long QT syndrome; L-type calcium channel; Timothy syndrome;
Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current
Keywords: سندرم تیموتی; CACNA1C; the CACNA1C-encoded α1c α-subunit of the L-type calcium channel; COTS; cardiac-only Timothy syndrome; LQTS; long QT syndrome; LTCC; L-type calcium channel; SCD; sudden cardiac death; SIDS; sudden infant death syndrome; TS; Timothy syndrome; CAC
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome
Keywords: سندرم تیموتی; Arrhythmia; Timothy syndrome; LQT8; Cav1.2; Gain-of-function;
Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8)
Keywords: سندرم تیموتی; CaV1.2; Timothy syndrome; Ventricular myocyte; Excitation–contraction coupling; Calcium wave
Electronic “expression” of the inward rectifier in cardiocytes derived from human-induced pluripotent stem cells
Keywords: سندرم تیموتی; AP; action potential; APD; action potential duration; DAD; delayed afterdepolarization; dV/dtmax; maximum rate of change of voltage with time; EAD; early afterdepolarization; h-iPSC; human-induced pluripotent stem cell; ICa; calcium current; If; pacemaker
Management of asthma in children with long QT syndrome
Keywords: سندرم تیموتی; Asthma; Long QT syndrome [LQTS]; Adrenergic beta receptors; Cardiac arrhythmias; Syncope; Management; LQTS; Long QT syndrome; RWS; Romano-Ward syndrome; JLNS; Jervell-Lange-Nielsen syndrome; AS; Anderson-Tawil Syndrome; TS; Timothy syndrome; ICD; Implanta
Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders
Keywords: سندرم تیموتی; Timothy syndrome; SYNGAP1; ERK1; Circadian rhythm;
Cellular reprogramming: a novel tool for investigating autism spectrum disorders
Keywords: سندرم تیموتی; induced pluripotent stem cells; neurodevelopmental disorder; reprogramming; disease modeling; autism spectrum disorder; Rett syndrome; fragile X syndrome; Timothy syndrome
Molecular and Cellular PharmacologyTwo mechanistically distinct effects of dihydropyridine nifedipine on CaV1.2 L-type Ca2+ channels revealed by Timothy syndrome mutation
Keywords: سندرم تیموتی; CaV1.2 L-type Ca2+ channel; Voltage-dependent inactivation; Dihydropyridine; Nifedipine; Timothy syndrome; Allosteric model;
Different subcellular populations of L-type Ca2+ channels exhibit unique regulation and functional roles in cardiomyocytes
Keywords: سندرم تیموتی; LTCC; L-type Ca2+ channel; EC; excitation-contraction; ICa,L; L-type Ca2+ current; SR; sarcoplasmic reticulum; T-tubules; transverse tubules; CICR; Ca2+-induced Ca2+ release; [Ca2+]i; free intracellular Ca2+ concentration; PKA; protein kinase A; Cav; ca
Hallmarks of the channelopathies associated with L-type calcium channels : A focus on the Timothy mutations in Cav1.2 channels
Keywords: سندرم تیموتی; Calcium channelopathies; Timothy syndrome; L-type calcium channels; Calcium current
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8)
Keywords: سندرم تیموتی; Timothy syndrome; Long QT syndrome; Ventricular fibrillation; Implantable cardioverter-defibrillator;