Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.G203S
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TNNI3

NM_000363.5:p.G203S

Associated Papers

Novel Peptide Therapeutics Targeting the L-Type Calcium Channel Prevent Hypertrophic Cardiomyopathy by Decreasing Mitochondrial Energetics.

Er TS et al.

Jacc. Basic to Translational Science, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc2.xlsx › Data_extraction

Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.

Han D et al.

Animal Cells and Systems, 2025

Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review.

Menezes Junior ADS et al.

International Journal of Molecular Sciences, 2024

Non-Canonical Localization of Cardiac Troponins: Expanding Functions or Causing Pathologies?

Arifulin EA et al.

International Journal of Molecular Sciences, 2024

Exploring contractile protein mechanisms and target medications for cardiomyopathic patients with diastolic dysfunction.

Gerber D et al.

Pediatric Discovery, 2024

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

Genetic variants, pathophysiological pathways, and oral anticoagulation in patients with hypertrophic cardiomyopathy and atrial fibrillation.

Wang S et al.

Frontiers in Cardiovascular Medicine, 2023

Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.

Tamargo J et al.

Expert Opinion on Investigational Drugs, 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L et al.

Jama Cardiology, 2021

Preventative therapeutic approaches for hypertrophic cardiomyopathy.

Solomon T et al.

The Journal of Physiology, 2021

Electrophysiological and Structural Remodeling of the Atria in a Mouse Model of Troponin-I Mutation Linked Hypertrophic Cardiomyopathy: Implications for Atrial Fibrillation.

Lim WW et al.

International Journal of Molecular Sciences, 2021

Characterization and validation of a preventative therapy for hypertrophic cardiomyopathy in a murine model of the disease.

Viola HM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy.

Coats CJ et al.

Circulation. Genomic and Precision Medicine, 2018

Dystrophic Cardiomyopathy-Potential Role of Calcium in Pathogenesis, Treatment and Novel Therapies.

Johnstone VP et al.

Genes, 2017

The L-type Ca(2+) channel facilitates abnormal metabolic activity in the cTnI-G203S mouse model of hypertrophic cardiomyopathy.

Viola H et al.

The Journal of Physiology, 2016

Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

Cheng Y et al.

Archives of Biochemistry and Biophysics, 2016

Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

Marques MA et al.

Frontiers in Physiology, 2016

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

Marston SB

Frontiers in Physiology, 2016

Troponin I Mutations R146G and R21C Alter Cardiac Troponin Function, Contractile Properties, and Modulation by Protein Kinase A (PKA)-mediated Phosphorylation.

Cheng Y et al.

The Journal of Biological Chemistry, 2015

A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.

Mogensen J et al.

The Canadian Journal of Cardiology, 2015

A novel phosphorylation site, Serine 199, in the C-terminus of cardiac troponin I regulates calcium sensitivity and susceptibility to calpain-induced proteolysis.

Wijnker PJ et al.

Journal of Molecular and Cellular Cardiology, 2015

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Zhao Y et al.

Biomed Research International, 2015

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

CCN2 plays a key role in extracellular matrix gene expression in severe hypertrophic cardiomyopathy and heart failure.

Tsoutsman T et al.

Journal of Molecular and Cellular Cardiology, 2013

Structural and kinetic effects of hypertrophic cardiomyopathy related mutations R146G/Q and R163W on the regulatory switching activity of rat cardiac troponin I.

Zhou Z et al.

Archives of Biochemistry and Biophysics, 2013

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin.

Loong CK et al.

Febs Letters, 2012

Myocardial contractile and metabolic properties of familial hypertrophic cardiomyopathy caused by cardiac troponin I gene mutations: a simulation study.

Wu B et al.

Experimental Physiology, 2012

Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure.

Bagnall RD et al.

Plos One, 2012

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

van den Wijngaard A et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011

Opposing actions of extracellular signal-regulated kinase (ERK) and signal transducer and activator of transcription 3 (STAT3) in regulating microtubule stabilization during cardiac hypertrophy.

Ng DC et al.

The Journal of Biological Chemistry, 2011

Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

Kubo T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2011

Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.

Wang F et al.

Journal of Biomedicine & Biotechnology, 2011

Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene.

Murakami C et al.

Legal Medicine (tokyo, Japan), 2010

Differential protein expression profiling of myocardial tissue in a mouse model of hypertrophic cardiomyopathy.

Lam L et al.

Journal of Molecular and Cellular Cardiology, 2010

Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.

Xu Q et al.

Journal of Molecular and Cellular Cardiology, 2010

The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments.

Galińska A et al.

Circulation Research, 2010

Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.

Davis J et al.

Plos One, 2010

Defective dynamic properties of human cardiac troponin mutations.

Lassalle MW

Bioscience, Biotechnology, and Biochemistry, 2010

Role of animal models in HCM research.

Shephard R et al.

Journal of Cardiovascular Translational Research, 2009

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

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

Kelly M et al.

Circulation. Cardiovascular Genetics, 2009

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Tsoutsman T et al.

Clinical and Experimental Pharmacology & Physiology, 2008

Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice.

Wen Y et al.

The Journal of Biological Chemistry, 2008

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

Du J et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2008

Troponin: regulatory function and disorders.

Ohtsuki I et al.

Biochemical and Biophysical Research Communications, 2008

Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy.

Tsoutsman T et al.

Circulation, 2008

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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."