Associated Papers
Promoting Autophagy Mitigates Stress-Induced Remodeling in Patient iPSC-CMs with the Phospholamban R9C Mutation.
Yu Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
PLN-related obstructive hypertrophic cardiomyopathy responsive to mavacamten.
Beltrami M et al.
European Heart Journal, 2025
Dilated cardiomyopathy: from genes and molecules to potential treatments.
Wang X et al.
Molecular and Cellular Biochemistry, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Environmental Risk Factors Are Associated With the Natural History of Familial Dilated Cardiomyopathy.
Peters SA et al.
Journal of the American Heart Association, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic landscape of phospholamban cardiomyopathies.
Vafiadaki E et al.
Frontiers in Cell and Developmental Biology, 2025
RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
Du X et al.
Clinical Case Reports, 2024
Homozygous Phospholamban Mutation Causing Dilated Cardiomyopathy in a Young Man: From Cardiogenic Shock to Tennis Tournaments.
Mazzone F et al.
Clinical Transplantation, 2024
"Acquired" sudden cardiac death high-risk genetic mutation in a heart transplant recipient.
Fazzini L et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2024
Impact of Genetic Testing on the Diagnosis, Management, and Prognosis of Hypertrophic Cardiomyopathy: A Systematic Review.
McBenedict B et al.
Cureus, 2024
A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature.
Gencheva D et al.
International Journal of Molecular Sciences, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Mitigation of Stress-induced Structural Remodeling and Functional Deficiency in iPSC-CMs with PLN R9C Mutation by Promoting Autophagy.
Yu Q et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Voinescu OR et al.
International Journal of Molecular Sciences, 2024
A Heterozygous Phospholamban Variant (p.R14del) Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy.
Mo H et al.
Phenomics (cham, Switzerland), 2024
Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review.
Afana AS et al.
Journal of Cardiovascular Development and Disease, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy.
Neves R et al.
International Journal of Cardiology, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
Phospholamban R14del disease: The past, the present and the future.
Vafiadaki E et al.
Frontiers in Cardiovascular Medicine, 2023
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del.
Deiman FE et al.
Current Heart Failure Reports, 2022
Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series.
Tabata T et al.
Internal Medicine (tokyo, Japan), 2022
Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants.
Peters S et al.
Circulation. Genomic and Precision Medicine, 2022
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
Antisense Therapy Attenuates Phospholamban p.(Arg14del) Cardiomyopathy in Mice and Reverses Protein Aggregation.
Eijgenraam TR et al.
International Journal of Molecular Sciences, 2022
An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation.
Rohner E et al.
Molecular Medicine (cambridge, Mass.), 2021
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello F et al.
Embo Molecular Medicine, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Dysregulation of Calcium Handling in Duchenne Muscular Dystrophy-Associated Dilated Cardiomyopathy: Mechanisms and Experimental Therapeutic Strategies.
Law ML et al.
Journal of Clinical Medicine, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode.
Li Z et al.
International Journal of Cardiology, 2019
Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.
Ceholski DK et al.
Journal of Molecular and Cellular Cardiology, 2018
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017