Associated Papers
Novel mutation associated with non-compaction ventricular myocardium: A case report.
Li Y et al.
Esc Heart Failure, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Heterogeneous Dysregulation of Myosin Super-Relaxation and Energetics in Hypertrophic Cardiomyopathy.
Ochala J et al.
Circulation. Heart Failure, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Unravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.
Kissopoulou A et al.
Genes, 2025
Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.
Lv C et al.
Nature Communications, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy.
Hong Y et al.
World Journal of Cardiology, 2025
Long noncoding RNA VENTHEART is required for ventricular cardiomyocyte specification and function.
Yang Y et al.
Journal of Molecular and Cellular Cardiology, 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
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.
Sun Q et al.
Bmj Paediatrics Open, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes.
Dababneh S et al.
The Canadian Journal of Cardiology, 2024
Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases.
Hiraya D et al.
Frontiers in Genetics, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy].
Sun Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Phosphorylation Mimetic of Myosin Regulatory Light Chain Mitigates Cardiomyopathy-Induced Myofilament Impairment in Mouse Models of RCM and DCM.
Kazmierczak K et al.
Life (basel, Switzerland), 2023
Human-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for TNNT2 Δ160E-Induced Cardiomyopathy.
Kondo T et al.
Circulation. Genomic and Precision Medicine, 2022
Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2022
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal DS et al.
Journal of Cardiovascular Development and Disease, 2022
Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.
Shen H 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
Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.
Trachoo O et al.
Plos One, 2022
Functional comparison of phosphomimetic S15D and T160D mutants of myosin regulatory light chain exchanged in cardiac muscle preparations of HCM and WT mice.
Kazmierczak K et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic Testing in Patients with Hypertrophic Cardiomyopathy.
Bonaventura J et al.
International Journal of Molecular Sciences, 2021
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Hughes RK et al.
Journal of the American Heart Association, 2021
Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca2+ sensitivity.
Zhang J et al.
The Febs Journal, 2021
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.
Ignatieva E et al.
International Journal of Molecular Sciences, 2021
Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin.
Rasicci DV et al.
The Journal of General Physiology, 2021
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.
Pan Z et al.
Pflugers Archiv : European Journal of Physiology, 2021
Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.
Kim M et al.
Circulation. Genomic and Precision Medicine, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 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
Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.
Tamamitsu AM et al.
International Heart Journal, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.
Schmid M et al.
Biology Open, 2021
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Patients With Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing With Next-Generation Sequencing.
O'Hare BJ et al.
Circulation. Genomic and Precision Medicine, 2020
Beyond Family: Modeling Non-hereditary Heart Diseases With Human Pluripotent Stem Cell-Derived Cardiomyocytes.
Martewicz S et al.
Frontiers in Physiology, 2020