Associated Papers
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
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
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
Tropomyosin pseudo-phosphorylation can rescue the effects of cardiomyopathy-associated mutations.
Nefedova VV et al.
International Journal of Biological Macromolecules, 2021
Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.
Matyushenko AM et al.
Biochemistry. Biokhimiia, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.
Lynn ML et al.
Journal of Molecular and Cellular Cardiology, 2017
Structural and Functional Effects of Cardiomyopathy-Causing Mutations in the Troponin T-Binding Region of Cardiac Tropomyosin.
Matyushenko AM et al.
Biochemistry, 2017
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
Gupte TM et al.
The Journal of Biological Chemistry, 2015
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
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
Thin filament mutations: developing an integrative approach to a complex disorder.
Tardiff JC
Circulation Research, 2011
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
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Van Driest SL et al.
Circulation, 2003