Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.K70T
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TPM1

NM_001018005.2:p.K70T

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

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

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

Takasaki A et al.

Pediatric Research, 2018

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

Energy landscapes reveal the myopathic effects of tropomyosin mutations.

Orzechowski M et al.

Archives of Biochemistry and Biophysics, 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

Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?

Chase PB 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

Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.

Bai F et al.

Biophysical Journal, 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

Molecular and functional characterization of a novel cardiac-specific human tropomyosin isoform.

Rajan S et al.

Circulation, 2010

An internal domain of beta-tropomyosin increases myofilament Ca(2+) sensitivity.

Jagatheesan G et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2009

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

Jagatheesan G et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2007

Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity.

Rajan S et al.

Circulation Research, 2007

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.

Mirza M et al.

The Journal of Biological Chemistry, 2007

The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.

Gafurov B et al.

Biochemistry, 2004

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

Hilario E et al.

European Journal of Biochemistry, 2004

Charged residue changes in the carboxy-terminus of alpha-tropomyosin alter mouse cardiac muscle contractility.

Gaffin RD et al.

The Journal of Physiology, 2004

Cardiomyopathic tropomyosin mutations that increase thin filament Ca2+ sensitivity and tropomyosin N-domain flexibility.

Heller MJ et al.

The Journal of Biological Chemistry, 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

Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations.

Hinkle A et al.

The Journal of Biological Chemistry, 2003

Molecular diagnosis of myocardial disease.

Towbin JA et al.

Expert Review of Molecular Diagnostics, 2002

Molecular mechanisms of inherited cardiomyopathies.

Fatkin D et al.

Physiological Reviews, 2002

Genetic bases of hypertrophic cardiomyopathy.

Mattos BP

Arquivos Brasileiros De Cardiologia, 2002

Calcium, contractions, and tropomyosin Focus on "divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins".

Marston SB et al.

Physiological Genomics, 2002

Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins.

Michele DE et al.

Physiological Genomics, 2002

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation.

Hernandez OM et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2001

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.

Karibe A et al.

Circulation, 2001

Molecular genetics of hypertrophic cardiomyopathy.

Towbin JA

Current Cardiology Reports, 2000

The molecular genetics of hypertrophic cardiomyopathy: prognostic implications.

Sorajja P et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2000

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.

Michele DE et al.

Journal of Molecular Medicine (berlin, Germany), 2000

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes.

Michele DE et al.

Nature Medicine, 1999

Familial hypertrophic cardiomyopathy: from mutations to functional defects.

Bonne G et al.

Circulation Research, 1998

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.

Yamauchi-Takihara K et al.

Heart (british Cardiac Society), 1996

[Hypertrophic cardiomyopathy. Electrocardiographic analysis of ventricular depolarization].

Mattos BP et al.

Arquivos Brasileiros De Cardiologia, 1984

[Hypertrophic cardiomyopathy].

Bersano E et al.

Arquivos Brasileiros De Cardiologia, 1982

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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."