Associated Papers
Redox Imbalance and Genetic Mutations in Heart Failure: Synergistic Mechanisms and Therapeutic Strategies.
Balakrishnan VK et al.
Genes, 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
Phenotype specific nuclear lamina remodeling in hiPSC derived cardiomyocytes bearing TNNT2 sarcomeric variants.
Coscarella IL et al.
Iscience, 2025
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Hypertrophic Cardiomyopathy: Genes and Mechanisms.
Chen J et al.
Frontiers in Bioscience (landmark Edition), 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Dilated Cardiomyopathy - Exploring the Underlying Causes.
Wieczorek DF
Medical Research Archives, 2024
Focus on cardiac troponin complex: From gene expression to cardiomyopathy.
Ragusa R et al.
Genes & Diseases, 2024
Structural dynamics of the intrinsically disordered linker region of cardiac troponin T.
Cubuk J et al.
Biorxiv : the Preprint Server for Biology, 2024
Tropomyosin-troponin complex in inherited cardiomyopathies.
Juárez CK et al.
Heart Rhythm, 2024
Integrated machine learning and multimodal data fusion for patho-phenotypic feature recognition in iPSC models of dilated cardiomyopathy.
Wali R et al.
Biological Chemistry, 2024
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.
Sun Q et al.
Bmj Paediatrics Open, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
Cas13b-mediated RNA targeted therapy alleviates genetic dilated cardiomyopathy in mice.
Li J et al.
Cell & Bioscience, 2024
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 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
Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.
Wang L et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
An Alternative Mechanism of Subcellular Iron Uptake Deficiency in Cardiomyocytes.
Dai Y et al.
Circulation Research, 2023
Pathogenic Roles of Cardiac Fibroblasts in Pediatric Dilated Cardiomyopathy.
Tsuru H et al.
Journal of the American Heart Association, 2023
A perspective on Notch signalling in progression and arrhythmogenesis in familial hypertrophic and dilated cardiomyopathies.
Langa P et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.
Weis A et al.
Journal of Personalized Medicine, 2023
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) in Cardiovascular Disease: A Comprehensive Clinical Review on Dilated Cardiomyopathy.
Ganipineni VDP et al.
Cureus, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
A case of fetal isolated ventricular noncompaction with TNNT2 gene mutation and literature review.
Zhang H et al.
Echocardiography (mount Kisco, N.y.), 2022
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
Li B et al.
Protein & Cell, 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
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Non-negative blind deconvolution for signal processing in a CRISPR-edited iPSC-cardiomyocyte model of dilated cardiomyopathy.
Xu H et al.
Febs Letters, 2021
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 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
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
Quiat D et al.
Journal of the American Heart Association, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Docking Troponin T onto the Tropomyosin Overlapping Domain of Thin Filaments.
Pavadai E et al.
Biophysical Journal, 2020
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I et al.
Open Medicine (warsaw, Poland), 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Disrupted mechanobiology links the molecular and cellular phenotypes in familial dilated cardiomyopathy.
Clippinger SR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Pathogenic troponin T mutants with opposing effects on myofilament Ca2+ sensitivity attenuate cardiomyopathy phenotypes in mice.
Dieseldorff Jones KM et al.
Archives of Biochemistry and Biophysics, 2019
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Insights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.
Dewan S et al.
Frontiers in Physiology, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Celestino-Soper PB et al.
Frontiers in Cardiovascular Medicine, 2017