555 results on '"Tester, David J"'
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2. Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy
3. Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes
4. Abstract 17329: Histone Modifications Regulate Hypertrophy Pathways in Obstructive Hypertrophic Cardiomyopathy
5. SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome
6. De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation
7. Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential
8. Abstract 15036: Suppression-Replacement Gene Therapy for CALM1-Mediated Long QT Syndrome
9. Abstract 13153: Proteomic Differences in Sarcomere Positive HCM May Explain More Severe Clinical Differences
10. Abstract 12634: A Novel in-vitro Patient-Specific Re-Engineered Cardiomyocyte Model of Multifocal Ectopic Purkinje-Related Premature Contractions
11. Abstract 12083: Highly Caffeinated Energy Drinks and Genetic Heart Disease-Associated Sudden Cardiac Arrest
12. Abstract 12044: Injectable Contraceptive, Medroxyprogesterone Acetate, Produces Erratic Beating Patterns in Patient-Specific Re-Engineered Heart Cells With Type 2 Long QT Syndrome
13. Abstract 11976: Functional Characterization of Calcium Handling Kinetics in Patient-Derived Ipsc-Cm Models of Pkp2-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy
14. 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
15. Abstract 11027: SGK1 Inhibition and Attenuation of the Action Potential Duration in Re-Engineered Heart Cell Models of Drug-Induced QT Prolongation
16. Abstract 10986: SGK1 Inhibition Attenuated the Action Potential Duration In-Patient and Genotype-Specific Re-Engineered Heart Cells With Congenital Long QT Syndrome
17. 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
18. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
19. Noncardiac genetic predisposition in sudden infant death syndrome
20. 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
21. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
22. Variant Frequency and Clinical Phenotype Call Into Question the Nature of Minor, Nonsyndromic Long-QT Syndrome–Susceptibility Gene-Disease Associations
23. The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most
24. Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China
25. SARS-CoV-2 spike protein-mediated cardiomyocyte fusion may contribute to increased arrhythmic risk in COVID-19
26. Elucidation of ALG10B as a Novel Long-QT Syndrome–Susceptibility Gene
27. Multi-Omic Architecture of Obstructive Hypertrophic Cardiomyopathy
28. Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias
29. Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome
30. Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series
31. Functional Invalidation of Putative Sudden Infant Death Syndrome–Associated Variants in the KCNH2-Encoded Kv11.1 Channel
32. Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes
33. Medicina personalizada: diagnóstico genético de cardiopatías/canalopatías hereditarias
34. Abstract 19352: Utilizing the Genome Aggregation Database, in silico Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations From Pathogenic to Benign
35. Abstract 16767: Re-Engineered Heart Cells From a Patient With R58Q-MYL2 Shows Increased Heart Rate, Cellular Hypertrophy, and Reduced L-Type Calcium Currents
36. Abstract 15885: A Novel Pore Region CACNA1C Missense Mutation Identified in a Patient With Ventricular Tachyarrhythmia Results in L-type Calcium Channel Selectivity Alteration
37. Abstract 14872: Utility of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Variants of Uncertain Significance
38. Abstract 14550: LQT5-Lite: Defining the Clinical Phenotype Associated With the Potentially Pro-Arrhythmic KCNE1-D85N Common Variant
39. Whole exome sequencing with genomic triangulation implicates CDH2‐encoded N‐cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy
40. Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing
41. Syntrophin Mutation Associated with Long QT Syndrome through Activation of the nNOS-SCN5A Macromolecular Complex
42. Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series
43. Mutation of an A-Kinase-Anchoring Protein Causes Long-QT Syndrome
44. Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant
45. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death
46. A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome
47. A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions
48. Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death
49. Abstract 13342: Transcriptional Profiling of Surgical Myectomy Tissue in Patients With Hypertrophic Cardiomyopathy Reveals Genotype Independent Counterregulatory Alterations in Hypertrophy Pathways
50. Abstract 13281: Idiopathic Ventricular Fibrillation Endophenotype Determines the Yield of Ultra-Rare RYR2 Variants in Youthful Unexplained Sudden Cardiac Arrest
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