Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E180G
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TPM1

NM_001018005.2:p.E180G

Associated Papers

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

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Reduction in myofilament Ca2+ sensitivity partially ameliorates the cardiac phenotype in hypertrophic cardiomyopathy linked to a TnT-R92Q mutation.

Langa P et al.

Frontiers in Physiology, 2025

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

Nutraceuticals silybin B, resveratrol, and epigallocatechin-3 gallate-bind to cardiac muscle troponin to restore the loss of lusitropy caused by cardiomyopathy mutations in vitro, in vivo, and in silico.

Yang Z et al.

Frontiers in Physiology, 2024

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.

Matyushenko AM et al.

International Journal of Molecular Sciences, 2023

Effect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2023

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

Halder SS et al.

Pnas Nexus, 2023

Genetic variants, pathophysiological pathways, and oral anticoagulation in patients with hypertrophic cardiomyopathy and atrial fibrillation.

Wang S et al.

Frontiers in Cardiovascular Medicine, 2023

The Hippo Signaling Pathway as a Drug Target in Familial Dilated Cardiomyopathy.

Langa P et al.

International Journal of Drug Discovery and Pharmacology, 2022

Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.

Tamargo J et al.

Expert Opinion on Investigational Drugs, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.

Ahmad SA et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2022

Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Shen H 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

Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.

Mason AB et al.

Jci Insight, 2021

Ion Channel Impairment and Myofilament Ca2+ Sensitization: Two Parallel Mechanisms Underlying Arrhythmogenesis in Hypertrophic Cardiomyopathy.

Santini L et al.

Cells, 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

Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin.

Tobacman LS et al.

The Journal of General Physiology, 2021

Tropomyosin pseudo-phosphorylation can rescue the effects of cardiomyopathy-associated mutations.

Nefedova VV et al.

International Journal of Biological Macromolecules, 2021

NH2-Terminal Cleavage of Cardiac Troponin I Signals Adaptive Response to Cardiac Stressors.

Warren CM et al.

Journal of Cellular Signaling, 2021

34541579 (PubMed )
Supplement: NIHMS1735512-supplement-JCS-20-048_Supplementary_File.zip › JCS-20-048_Supplementary_File.pdf

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

M8R tropomyosin mutation disrupts actin binding and filament regulation: The beginning affects the middle and end.

Racca AW et al.

The Journal of Biological Chemistry, 2020

Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin TPM3 gene.

Matyushenko AM et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue.

Wijnker PJM et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Gene therapy for inherited arrhythmias.

Bezzerides VJ et al.

Cardiovascular Research, 2020

Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

Functional outcomes of structural peculiarities of striated muscle tropomyosin.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2020

Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

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

New insights provided by myofibril mechanics in inherited cardiomyopathies.

Lin YH et al.

Conditioning Medicine, 2019

[Hypertrophic cardiomyopathy: modern aspects of pharmacologic treatment].

Gudkova AY et al.

Terapevticheskii Arkhiv, 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

The Effect of Tropomyosin Mutations on Actin-Tropomyosin Binding: In Search of Lost Time.

Lehman W et al.

Biophysical Journal, 2019

Coronary arterial vasculature in the pathophysiology of hypertrophic cardiomyopathy.

Marszalek RJ et al.

Pflugers Archiv : European Journal of Physiology, 2019

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

Myopathic mutations in the β-chain of tropomyosin differently affect the structural and functional properties of ββ- and αβ-dimers.

Bershitsky SY et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

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

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

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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."