Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K206I
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TNNI3

NM_000363.5:p.K206I

Associated Papers

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

Gerber D et al.

Pediatric Discovery, 2024

Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.

Karpicheva OE et al.

International Journal of Molecular Sciences, 2023

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

Tamargo J et al.

Expert Opinion on Investigational Drugs, 2022

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

NH2-Terminal Cleavage of Cardiac Troponin I Signals Adaptive Response to Cardiac Stressors.

Warren CM et al.

Journal of Cellular Signaling, 2021

34541579 (PubMed )
Supplement: NIHMS1735512-supplement-JCS-20-048_Supplementary_File.zip › JCS-20-048_Supplementary_File.pdf

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.

Kresin N et al.

Frontiers in Physiology, 2019

The functional significance of the last 5 residues of the C-terminus of cardiac troponin I.

Gilda JE et al.

Archives of Biochemistry and Biophysics, 2016

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

Marston SB

Frontiers in Physiology, 2016

Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies.

Liu X et al.

Frontiers in Physiology, 2016

Green Tea Catechin Normalizes the Enhanced Ca2+ Sensitivity of Myofilaments Regulated by a Hypertrophic Cardiomyopathy-Associated Mutation in Human Cardiac Troponin I (K206I).

Warren CM et al.

Circulation. Cardiovascular Genetics, 2015

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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."