Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E54K
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TPM1

NM_001018005.2:p.E54K

Associated Papers

Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.

Wang Y et al.

Channels (austin, Tex.), 2025

5,7-Dimethoxychroman-3-yl 4-methoxybenzoate Has a Unique Effect upon the Modulation of Mutant Cardiac Muscle Thin Filament Function and Dynamics due to Phosphorylation of Troponin I.

Yang Z et al.

Acs Pharmacology & Translational Science, 2025

Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.

Halder SS et al.

The Journal of Clinical Investigation, 2024

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

Dilated Cardiomyopathy - Exploring the Underlying Causes.

Wieczorek DF

Medical Research Archives, 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

Protein phosphatase 2A anchoring disruptor gene therapy for familial dilated cardiomyopathy.

Li X et al.

Molecular Therapy. Methods & Clinical Development, 2024

Functional assays reveal the pathogenic mechanism of a de novo tropomyosin variant identified in patient with dilated cardiomyopathy.

Barrick SK et al.

Journal of Molecular and Cellular Cardiology, 2023

Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L.

Halder SS et al.

Pnas Nexus, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.

Giri P et al.

Heart Failure Reviews, 2022

Genetic predisposition study of heart failure and its association with cardiomyopathy.

Kaviarasan V et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 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

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

Upregulated Angiogenesis Is Incompetent to Rescue Dilated Cardiomyopathy Phenotype in Mice.

Arif M et al.

Cells, 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

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

Association of single nucleotide polymorphisms in the 3'UTR region of TPM1 gene with dilated cardiomyopathy: A case-control study.

Yao Q et al.

Medicine, 2019

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

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

Tropomyosin pseudo-phosphorylation results in dilated cardiomyopathy.

Rajan S et al.

The Journal of Biological Chemistry, 2019

Combinatorial interactions of genetic variants in human cardiomyopathy.

Deacon DC et al.

Nature Biomedical Engineering, 2019

Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.

Takasaki A et al.

Pediatric Research, 2018

Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.

Bondue A et al.

Cardiovascular Research, 2018

The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.

Marston S

International Journal of Molecular Sciences, 2018

Functional role of the core gap in the middle part of tropomyosin.

Matyushenko AM et al.

The Febs Journal, 2018

Structural destabilization of tropomyosin induced by the cardiomyopathy-linked mutation R21H.

Ly T et al.

Protein Science : a Publication of the Protein Society, 2018

Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.

Sheehan A et al.

Frontiers in Physiology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."