Associated Papers
Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
Zaklyazminskaya EV et al.
International Journal of Molecular Sciences, 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
Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.
Sun Q et al.
Bmj Paediatrics Open, 2024
Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM).
Hanel Y et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2024
Circulating c-Met-Expressing Memory T Cells Define Cardiac Autoimmunity.
Fanti S et al.
Circulation, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.
Man Y et al.
Medicine, 2022
Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.
Hassoun R et al.
International Journal of Molecular Sciences, 2021
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
The Effect of Tropomyosin Mutations on Actin-Tropomyosin Binding: In Search of Lost Time.
Lehman W et al.
Biophysical Journal, 2019
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 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
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
Alpha-tropomyosin mutations in inherited cardiomyopathies.
Redwood C et al.
Journal of Muscle Research and Cell Motility, 2013
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
van de Meerakker JB et al.
Biochimica Et Biophysica Acta, 2013