Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.L185R
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TPM1

NM_001018005.2:p.L185R

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

A Novel TPM1 Mutation Causes Familial Hypertrophic Cardiomyopathy in an Indian Family: Genetic and Clinical Correlation.

Kumar P et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2024

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

Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Li X et al.

Frontiers in Cardiovascular Medicine, 2021

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

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

Moraczewska J

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

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

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

Takasaki A et al.

Pediatric Research, 2018

Abstracts of EMC2017.

Unknown Author

Journal of Muscle Research and Cell Motility, 2017

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

Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.

Zheng W et al.

Journal of Muscle Research and Cell Motility, 2016

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Marston SB

Frontiers in Physiology, 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

Structural and protein interaction effects of hypertrophic and dilated cardiomyopathic mutations in alpha-tropomyosin.

Chang AN et al.

Frontiers in Physiology, 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

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

Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood.

Makhoul M et al.

Pediatric Cardiology, 2011

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

Jagatheesan G et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.

Vasile VC et al.

Molecular Genetics and Metabolism, 2006

Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin.

Chang AN et al.

The Journal of Biological Chemistry, 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

Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy-linked alpha-tropomyosin mutations.

Coutu P et al.

Circulation Research, 2004

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

Van Driest SL et al.

Circulation, 2003

Diastolic ventricular dysfunction as a marker for hypertrophic cardiomyopathy in a family with a novel alpha-tropomyosin mutation.

Earing MG et al.

Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography, 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

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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."