Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.A277V
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TPM1

NM_001018005.2:p.A277V

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

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

Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin.

Nefedova VV et al.

International Journal of Molecular Sciences, 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

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

Functional outcomes of structural peculiarities of striated muscle tropomyosin.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2020

Cardiomyopathy Mutation Alters End-to-End Junction of Tropomyosin and Reduces Calcium Sensitivity.

Sundar S et al.

Biophysical Journal, 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

The effects of cardiomyopathy-associated mutations in the head-to-tail overlap junction of α-tropomyosin on its properties and interaction with actin.

Matyushenko AM et al.

International Journal of Biological Macromolecules, 2019

Deviations in conformational rearrangements of thin filaments and myosin caused by the Ala155Thr substitution in hydrophobic core of tropomyosin.

Karpicheva OE et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017

Alpha-tropomyosin mutations in inherited cardiomyopathies.

Redwood C et al.

Journal of Muscle Research and Cell Motility, 2013

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Rampersaud E et al.

Progress in Pediatric Cardiology, 2011

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE et al.

Circulation. Cardiovascular Genetics, 2010

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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."