Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.G159D
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TNNC1

NM_003280.3:p.G159D

Associated Papers

Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction.

Landim-Vieira M et al.

Circulation. Genomic and Precision Medicine, 2025

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

Troponin C gene mutations on cardiac muscle cell and skeletal Regulation: A comprehensive review.

Aborode AT et al.

Gene, 2024

Emerging Concepts of Mechanisms Controlling Cardiac Tension: Focus on Familial Dilated Cardiomyopathy (DCM) and Sarcomere-Directed Therapies.

Solaro RJ et al.

Biomedicines, 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

Modulation of Structure and Dynamics of Cardiac Troponin by Phosphorylation and Mutations Revealed by Molecular Dynamics Simulations.

Yang Z et al.

The Journal of Physical Chemistry. B, 2023

37791815 (PubMed )
Supplement: jp3c02337_si_006.zip › supplement_dataset › revised_Supplementary_material_text_for.pdf

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.

Reinoso TR et al.

Journal of Muscle Research and Cell Motility, 2021

The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.

Johnston JR et al.

The Journal of Biological Chemistry, 2019

New insights provided by myofibril mechanics in inherited cardiomyopathies.

Lin YH et al.

Conditioning Medicine, 2019

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.

Landim-Vieira M et al.

Frontiers in Physiology, 2019

Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.

Vikhorev PG et al.

International Journal of Molecular Sciences, 2018

The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.

Marston S

International Journal of Molecular Sciences, 2018

Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.

Sheehan A et al.

Frontiers in Physiology, 2018

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.

Vikhorev PG et al.

Scientific Reports, 2017

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

Marston SB

Frontiers in Physiology, 2016

Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.

Li MX et al.

Gene, 2015

Uncoupling of myofilament Ca2+ sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate.

Papadaki M et al.

Cardiovascular Research, 2015

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

The dilated cardiomyopathy-causing mutation ACTC E361G in cardiac muscle myofibrils specifically abolishes modulation of Ca(2+) regulation by phosphorylation of troponin I.

Vikhorev PG et al.

Biophysical Journal, 2014

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Messer AE et al.

Frontiers in Physiology, 2014

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

Memo M et al.

Cardiovascular Research, 2013

Genetic mutations and mechanisms in dilated cardiomyopathy.

McNally EM et al.

The Journal of Clinical Investigation, 2013

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

Parvatiyar MS et al.

The Journal of Biological Chemistry, 2012

Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

Pinto JR et al.

The Journal of Biological Chemistry, 2011

How do mutations in contractile proteins cause the primary familial cardiomyopathies?

Marston SB

Journal of Cardiovascular Translational Research, 2011

Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.

Frazier AH et al.

Progress in Pediatric Cardiology, 2011

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Rampersaud E et al.

Progress in Pediatric Cardiology, 2011

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

Song W et al.

Journal of Molecular and Cellular Cardiology, 2010

Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.

van Spaendonck-Zwarts KY et al.

Circulation, 2010

Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.

Dyer EC et al.

Circulation. Heart Failure, 2009

Expanded spectrum of gene causing both hypertrophic cardiomyopathy and dilated cardiomyopathy.

Morimoto S

Circulation Research, 2009

Sarcomeric proteins and inherited cardiomyopathies.

Morimoto S

Cardiovascular Research, 2008

Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood.

Kaski JP et al.

Cardiology in the Young, 2007

Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres.

Preston LC et al.

Pflugers Archiv : European Journal of Physiology, 2007

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

Mogensen J et al.

Journal of the American College of Cardiology, 2004

[Hypertrophic cardiomyopathy and dilated cardiomyopathy in six members of a family].

Tatsumi T et al.

Kokyu to Junkan. Respiration & Circulation, 1988

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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."