Associated Papers
Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy.
Guo Y et al.
Anatolian Journal of Cardiology, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.
Teresi L et al.
Biomedicines, 2025
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
A South Asian Indian PRKAG2 patient-derived induced pluripotent stem cell (iPSC) line to model glycogen storage-associated hypertrophic cardiomyopathy.
Chakrabarti S et al.
Stem Cell Research, 2025
Identification of marker genes associated with oxidative stress in hypertrophic cardiomyopathy using bioinformatics analysis and experimental validation.
Zhuo J et al.
Scientific Reports, 2025
Identifying PRKAG2 syndrome-a rare cause of wolff-Parkinson-white syndrome and left ventricular hypertrophy: a case report.
Jang JH et al.
European Heart Journal. Case Reports, 2025
PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events.
Sudomir M et al.
Biomedicines, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The metabolic sensor AMPK: Twelve enzymes in one.
Smiles WJ et al.
Molecular Metabolism, 2024
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
Micaglio E et al.
International Journal of Molecular Sciences, 2024
Fasciculoventricular accessory pathway masked extensive atrioventricular conduction system disease in a patient with PRKAG2 syndrome.
Gong F et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2024
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes.
Dababneh S et al.
The Canadian Journal of Cardiology, 2024
Cardiomyogenic differentiation of an induced pluripotent stem cell line carrying PRKAG2 R302Q mutation.
Gu Y et al.
Medcomm, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients.
Chen X et al.
American Heart Journal, 2024
Wolf-Parkinson-White Syndrome: Diagnosis, Risk Assessment, and Therapy-An Update.
Vătășescu RG et al.
Diagnostics (basel, Switzerland), 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
A Contemporary Review of the Genomic Associations of Coronary Artery Myocardial Bridging.
Moore P et al.
Genes, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation-Family Case Report and Review of the Literature.
Marcu AS et al.
Life (basel, Switzerland), 2022
Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.
Zhang J et al.
Bmc Medical Genomics, 2022
Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics.
Magalhães EFS et al.
Arquivos Brasileiros De Cardiologia, 2022
Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling.
Vučković S et al.
Stem Cell Research & Therapy, 2022
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Gong X et al.
Molecular Genetics & Genomic Medicine, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
AKT-mTOR signaling-mediated rescue of PRKAG2 R302Q mutant-induced familial hypertrophic cardiomyopathy by treatment with β-adrenergic receptor (β-AR) blocker metoprolol.
Zhuo J et al.
Cardiovascular Diagnosis and Therapy, 2022
Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.
Rodríguez Ortuño J et al.
Medicina Clinica, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Atrial Lesions in a Pedigree With PRKAG2 Cardiomyopathy: Involvement of Disrupted AMP-Activated Protein Kinase Signaling.
Chen S et al.
Frontiers in Cardiovascular Medicine, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose.
Cadena-Ullauri S et al.
Frontiers in Cardiovascular Medicine, 2022
Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.
Santini L et al.
Cells, 2021
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 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
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021