Associated Papers
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy.
Fu J et al.
Frontiers in Genetics, 2025
Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.
Halder SS et al.
The Journal of Clinical Investigation, 2024
Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.
Azimi A et al.
Esc Heart Failure, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
A Novel TPM1 Mutation Causes Familial Hypertrophic Cardiomyopathy in an Indian Family: Genetic and Clinical Correlation.
Kumar P et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2024
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical 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
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks SLVM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Loss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation.
Sewanan LR et al.
The Journal of General Physiology, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.
Dorsch LM et al.
International Journal of Cardiology, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Tropomyosin pseudo-phosphorylation can rescue the effects of cardiomyopathy-associated mutations.
Nefedova VV et al.
International Journal of Biological Macromolecules, 2021
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Moving beyond simple answers to complex disorders in sarcomeric cardiomyopathies: the role of integrated systems.
Deranek AE et al.
Pflugers Archiv : European Journal of Physiology, 2019
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.
Takasaki A et al.
Pediatric Research, 2018
HCM and DCM cardiomyopathy-linked α-tropomyosin mutations influence off-state stability and crossbridge interaction on thin filaments.
Farman GP et al.
Archives of Biochemistry and Biophysics, 2018
Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.
Zheng W et al.
Journal of Muscle Research and Cell Motility, 2016
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
Gupte TM et al.
The Journal of Biological Chemistry, 2015
Energy landscapes reveal the myopathic effects of tropomyosin mutations.
Orzechowski M et al.
Archives of Biochemistry and Biophysics, 2014
Structural and protein interaction effects of hypertrophic and dilated cardiomyopathic mutations in alpha-tropomyosin.
Chang AN et al.
Frontiers in Physiology, 2014
A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.
Bai F et al.
Journal of Muscle Research and Cell Motility, 2013
Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?
Chase PB et al.
Journal of Muscle Research and Cell Motility, 2013
Alpha-tropomyosin mutations in inherited cardiomyopathies.
Redwood C et al.
Journal of Muscle Research and Cell Motility, 2013
Integrative structural modelling of the cardiac thin filament: energetics at the interface and conservation patterns reveal a spotlight on period 2 of tropomyosin.
Margaret Sunitha S et al.
Bioinformatics and Biology Insights, 2012
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness.
Rüssel IK et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2011
How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance.
Germans T et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2010
Molecular and functional characterization of a novel cardiac-specific human tropomyosin isoform.
Rajan S et al.
Circulation, 2010
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.
Michels M et al.
European Heart Journal, 2009