Associated Papers
AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.
Bushway PJ et al.
Journal of Molecular and Cellular Cardiology, 2026
Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.
Chung H et al.
Korean Circulation Journal, 2025
Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.
Žebrauskienė D et al.
Genes, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Leinhos L et al.
Scientific Reports, 2025
The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.
Su W et al.
Frontiers in Cardiovascular Medicine, 2025
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Exploring contractile protein mechanisms and target medications for cardiomyopathic patients with diastolic dysfunction.
Gerber D et al.
Pediatric Discovery, 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
Modulation of Structure and Dynamics of Cardiac Troponin by Phosphorylation and Mutations Revealed by Molecular Dynamics Simulations.
Yang Z et al.
The Journal of Physical Chemistry. B, 2023
Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.
Tamargo J et al.
Expert Opinion on Investigational Drugs, 2022
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.
Patel AP et al.
Jama Cardiology, 2022
Functional Characterization of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G).
Hassoun R et al.
International Journal of Molecular Sciences, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
Keyt LK et al.
Frontiers in Cardiovascular Medicine, 2022
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
Exosomally derived Y RNA fragment alleviates hypertrophic cardiomyopathy in transgenic mice.
Huang F et al.
Molecular Therapy. Nucleic Acids, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.
Schmid M et al.
Biology Open, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling.
Robinson P et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations.
Sparrow AJ et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2020
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.
Johnston JR et al.
The Journal of Biological Chemistry, 2019
New insights provided by myofibril mechanics in inherited cardiomyopathies.
Lin YH et al.
Conditioning Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The inhibitory subunit of cardiac troponin (cTnI) is modified by arginine methylation in the human heart.
Onwuli DO et al.
International Journal of Cardiology, 2019
Disruption of embryonic ROCK signaling reproduces the sarcomeric phenotype of hypertrophic cardiomyopathy.
Bailey KE et al.
Jci Insight, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Hypertrophic cardiomyopathy mutations increase myofilament Ca2+ buffering, alter intracellular Ca2+ handling, and stimulate Ca2+-dependent signaling.
Robinson P et al.
The Journal of Biological Chemistry, 2018
A One Health Approach to Hypertrophic Cardiomyopathy.
Ueda Y et al.
The Yale Journal of Biology and Medicine, 2017
Molecular mechanisms in cardiomyopathy.
Dadson K et al.
Clinical Science (london, England : 1979), 2017
Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.
Zhao Y et al.
International Journal of Molecular Medicine, 2017
Cooperativity of myosin interaction with thin filaments is enhanced by stabilizing substitutions in tropomyosin.
Shchepkin DV et al.
Journal of Muscle Research and Cell Motility, 2017
Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.
Hwang JW et al.
Korean Circulation Journal, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
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
Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
Dvornikov AV et al.
The Journal of Biological Chemistry, 2016