Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R146G
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TNNI3

NM_000363.5:p.R146G

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Exosomally derived Y RNA fragment alleviates hypertrophic cardiomyopathy in transgenic mice.

Huang F et al.

Molecular Therapy. Nucleic Acids, 2021

Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin.

Tobacman LS et al.

The Journal of General Physiology, 2021

Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.

Dvornikov AV et al.

The Journal of Biological Chemistry, 2016

Effects of Cardiac Troponin I Mutation P83S on Contractile Properties and the Modulation by PKA-Mediated Phosphorylation.

Cheng Y et al.

The Journal of Physical Chemistry. B, 2016

The Cardiomyopathy Mutation, R146G Troponin I, Stabilizes the Intermediate "C" State of Regulated Actin under High- and Low-Free Ca(2+) Conditions.

Johnson D et al.

Biochemistry, 2016

Troponins, intrinsic disorder, and cardiomyopathy.

Na I et al.

Biological Chemistry, 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

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

The myosin-activated thin filament regulatory state, M⁻-open: a link to hypertrophic cardiomyopathy (HCM).

Lehrer SS et al.

Journal of Muscle Research and Cell Motility, 2014

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

Integration of troponin I phosphorylation with cardiac regulatory networks.

Solaro RJ et al.

Circulation Research, 2013

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

Role of animal models in HCM research.

Shephard R et al.

Journal of Cardiovascular Translational Research, 2009

Ala scanning of the inhibitory region of cardiac troponin I.

Kobayashi T et al.

The Journal of Biological Chemistry, 2009

Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.

Mathur MC et al.

Biophysical Journal, 2009

Tyrosine phosphorylation modifies protein kinase C delta-dependent phosphorylation of cardiac troponin I.

Sumandea MP et al.

The Journal of Biological Chemistry, 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

Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants.

Davis J et al.

Journal of Molecular and Cellular Cardiology, 2008

Lys184 deletion in troponin I impairs relaxation kinetics and induces hypercontractility in murine cardiac myofibrils.

Iorga B et al.

Cardiovascular Research, 2008

Use of 2-D DIGE analysis reveals altered phosphorylation in a tropomyosin mutant (Glu54Lys) linked to dilated cardiomyopathy.

Warren CM et al.

Proteomics, 2008

Phosphorylation-dependent conformational transition of the cardiac specific N-extension of troponin I in cardiac troponin.

Howarth JW et al.

Journal of Molecular Biology, 2007

Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.

Davis J et al.

Circulation Research, 2007

Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy.

Tsoutsman T et al.

Journal of Molecular and Cellular Cardiology, 2006

Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.

Kobayashi T et al.

The Journal of Biological Chemistry, 2006

Transgenic rabbit model for human troponin I-based hypertrophic cardiomyopathy.

Sanbe A et al.

Circulation, 2005

Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.

Kruger M et al.

The Journal of Physiology, 2005

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Effects of protein kinase C dependent phosphorylation and a familial hypertrophic cardiomyopathy-related mutation of cardiac troponin I on structural transition of troponin C and myofilament activation.

Kobayashi T et al.

Biochemistry, 2004

Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.

Barta J et al.

Molecular and Cellular Biochemistry, 2003

Myofilament calcium sensitivity and cardiac disease: insights from troponin I isoforms and mutants.

Westfall MV et al.

Circulation Research, 2002

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

Morimoto S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy.

James J et al.

Circulation Research, 2000

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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."