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
Phenotyping heart failure by genetics and associated conditions.
Wong J et al.
European Heart Journal. Cardiovascular Imaging, 2023
Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.
Matyushenko AM et al.
International Journal of Molecular Sciences, 2023
Mechanisms of Sarcomere Protein Mutation-Induced Cardiomyopathies.
Barefield DY et al.
Current Cardiology Reports, 2023
Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L.
Halder SS et al.
Pnas Nexus, 2023
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
Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
Kuruba B et al.
Molecules (basel, Switzerland), 2021
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
Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.
Matyushenko AM et al.
Biochemistry. Biokhimiia, 2020
Cardiomyopathy-associated mutations in tropomyosin differently affect actin-myosin interaction at single-molecule and ensemble levels.
Kopylova GV et al.
Journal of Muscle Research and Cell Motility, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Functional significance of HCM mutants of tropomyosin, V95A and D175N, studied with in vitro motility assays.
Ishii S et al.
Biophysics and Physicobiology, 2019
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.
Takasaki A et al.
Pediatric Research, 2018
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Hazebroek MR et al.
Circulation. Heart Failure, 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
Genetic testing for inherited cardiac disease.
Wilde AA et al.
Nature Reviews. Cardiology, 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
DCM-related tropomyosin mutants E40K/E54K over-inhibit the actomyosin interaction and lead to a decrease in the number of cycling cross-bridges.
Bai F et al.
Plos One, 2012
Heterogeneity of intramural function in hypertrophic cardiomyopathy: mechanistic insights from MRI late gadolinium enhancement and high-resolution displacement encoding with stimulated echoes strain maps.
Aletras AH et al.
Circulation. Cardiovascular Imaging, 2011
Thin filament mutations: developing an integrative approach to a complex disorder.
Tardiff JC
Circulation Research, 2011
Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.
Bai F et al.
Biophysical Journal, 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
Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.
Wang F et al.
Journal of Biomedicine & Biotechnology, 2011
A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy.
Friedrich FW et al.
European Heart Journal, 2009
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Ochala J et al.
The Journal of Physiology, 2008
Sarcomeric proteins and inherited cardiomyopathies.
Morimoto S
Cardiovascular Research, 2008
Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis.
Jagatheesan G et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2007
Diminished myofibril organization in mutant axolotl hearts transfected with site-directed mutants of sarcomeric tropomyosins.
Zajdel RW et al.
Cardiovascular Toxicology, 2005
The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.
Gafurov B et al.
Biochemistry, 2004
alpha-Tropomyosin mutations Asp(175)Asn and Glu(180)Gly affect cardiac function in transgenic rats in different ways.
Wernicke D et al.
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 2004
Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy-linked alpha-tropomyosin mutations.
Coutu P et al.
Circulation Research, 2004
A mouse model of familial hypertrophic cardiomyopathy caused by a alpha-tropomyosin mutation.
Prabhakar R et al.
Molecular and Cellular Biochemistry, 2003
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Van Driest SL et al.
Circulation, 2003
Genome-wide array analysis of normal and malformed human hearts.
Kaynak B et al.
Circulation, 2003
The role of tropomyosin in the regulation of myocardial contraction and relaxation.
Wolska BM et al.
Pflugers Archiv : European Journal of Physiology, 2003
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.
Jongbloed RJ et al.
Journal of the American College of Cardiology, 2003
Cardiomyopathies: from genetics to the prospect of treatment.
Franz WM et al.
Lancet (london, England), 2001
Advances in understanding hypertrophic cardiomyopathy.
Mohiddin S et al.
Hospital Practice (1995), 2001
Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation.
Hernandez OM et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2001
Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.
Karibe A et al.
Circulation, 2001
Regulation of contraction in striated muscle.
Gordon AM et al.
Physiological Reviews, 2000