Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E180V
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TPM1

NM_001018005.2:p.E180V

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

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

Matyushenko AM et al.

International Journal of Molecular Sciences, 2023

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

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

Nefedova VV et al.

International Journal of Biological Macromolecules, 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

The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.

Lynn ML et al.

Journal of Molecular and Cellular Cardiology, 2017

Structural and Functional Effects of Cardiomyopathy-Causing Mutations in the Troponin T-Binding Region of Cardiac Tropomyosin.

Matyushenko AM et al.

Biochemistry, 2017

Primary prevention of sudden cardiac death in a low-risk child with familial hypertrophic cardiomyopathy: the role of cardiac magnetic resonance imaging.

Yamazawa H et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 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

VIP gene deletion in mice causes cardiomyopathy associated with upregulation of heart failure genes.

Szema AM et al.

Plos One, 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

Thin filament mutations: developing an integrative approach to a complex disorder.

Tardiff JC

Circulation Research, 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

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

Ochala J et al.

The Journal of Physiology, 2008

Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression.

Keren A et al.

Nature Clinical Practice. Cardiovascular Medicine, 2008

Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis.

Jagatheesan G et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

Genetic causes of human heart failure.

Morita H et al.

The Journal of Clinical Investigation, 2005

Diminished myofibril organization in mutant axolotl hearts transfected with site-directed mutants of sarcomeric tropomyosins.

Zajdel RW et al.

Cardiovascular Toxicology, 2005

Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin.

Hilario E et al.

European Journal of Biochemistry, 2004

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Erdmann J et al.

Clinical Genetics, 2003

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

Van Driest SL 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

A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood.

Van Driest SL et al.

The American Journal of Cardiology, 2002

Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

Regitz-Zagrosek V et al.

Circulation, 2000

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