1,040 results on '"Tester, David J"'
Search Results
2. Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1-, CALM2-, and CALM3-Mediated Arrhythmia Disorders
3. Temporal Association Between Vaping and Risk of Cardiac Events
4. Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy
5. Injectable contraceptive Depo-Provera induces erratic beating patterns in patient-specific induced pluripotent stem cell–derived cardiomyocytes with long QT syndrome type 2
6. Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes
7. Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies
8. Abstract 17329: Histone Modifications Regulate Hypertrophy Pathways in Obstructive Hypertrophic Cardiomyopathy
9. SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome
10. SGK1 inhibition attenuates the action potential duration in reengineered heart cell models of drug-induced QT prolongation
11. Curcumin, a dietary natural supplement, prolongs the action potential duration of KCNE1-D85N–induced pluripotent stem cell–derived cardiomyocytes
12. De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation
13. Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential
14. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant
15. Patient-specific, re-engineered cardiomyocyte model confirms the circumstance-dependent arrhythmia risk associated with the African-specific common SCN5A polymorphism p.S1103Y: Implications for the increased sudden deaths observed in black individuals during the COVID-19 pandemic
16. A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
17. Histone Modifications and miRNA Perturbations Contribute to Transcriptional Dysregulation of Hypertrophy in Obstructive Hypertrophic Cardiomyopathy
18. Mapping human calreticulin regions important for structural stability
19. Abstract 15036: Suppression-Replacement Gene Therapy for CALM1-Mediated Long QT Syndrome
20. Abstract 13153: Proteomic Differences in Sarcomere Positive HCM May Explain More Severe Clinical Differences
21. Abstract 12634: A Novel in-vitro Patient-Specific Re-Engineered Cardiomyocyte Model of Multifocal Ectopic Purkinje-Related Premature Contractions
22. Abstract 12083: Highly Caffeinated Energy Drinks and Genetic Heart Disease-Associated Sudden Cardiac Arrest
23. Abstract 12044: Injectable Contraceptive, Medroxyprogesterone Acetate, Produces Erratic Beating Patterns in Patient-Specific Re-Engineered Heart Cells With Type 2 Long QT Syndrome
24. Abstract 11976: Functional Characterization of Calcium Handling Kinetics in Patient-Derived Ipsc-Cm Models of Pkp2-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy
25. Abstract 11556: Sodium/Glucose Co-Transporter 2 Inhibition and Attenuation of the Action Potential Duration in Patient-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome
26. Abstract 11027: SGK1 Inhibition and Attenuation of the Action Potential Duration in Re-Engineered Heart Cell Models of Drug-Induced QT Prolongation
27. Abstract 10986: SGK1 Inhibition Attenuated the Action Potential Duration In-Patient and Genotype-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome
28. Abstract 10669: Phenytoin, an Anti-Epileptic Sodium Channel Blocker, May Be a Novel Therapy for Type 3 Long Qt Syndrome Mediated by the Lidocaine-Insensitive SCN5A-F1760C Variant
29. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
30. KCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome.
31. Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve
32. Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit
33. Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript
34. Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign
35. A Multi-Omics Atlas of Sex-Specific Differences in Obstructive Hypertrophic Cardiomyopathy
36. Noncardiac genetic predisposition in sudden infant death syndrome
37. A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel
38. Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young
39. Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)
40. Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome
41. Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant
42. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
43. Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign
44. Induced Pluripotent Stem Cell–Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations
45. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
46. Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome–Susceptibility Gene-Disease Associations
47. J Wave Syndrome-Susceptibility Mutations Versus Benign Rare Variants: How Do We Decide?
48. The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most
49. Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China
50. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
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