Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.R141W
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TNNI3

NM_000363.5:p.R141W

Associated Papers

Mass Spectrometric ITEM-FOUR Analysis Reveals Coding Single-Nucleotide Polymorphisms in Human Cardiac Troponin T That Evade Detection by Sandwich ELISAs Which Use Monoclonal Antibodies M7 and M11.7 from the Elecsys Troponin T® Assay.

Kormann K et al.

International Journal of Molecular Sciences, 2025

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) in Cardiovascular Disease: A Comprehensive Clinical Review on Dilated Cardiomyopathy.

Ganipineni VDP et al.

Cureus, 2023

Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament.

Mason AB et al.

Jci Insight, 2021

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.

Marey I et al.

Open Medicine (warsaw, Poland), 2020

Insights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.

Dewan S et al.

Frontiers in Physiology, 2017

Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.

Sommese RF et al.

Plos One, 2013

Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

Liu B et al.

Plos One, 2012

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

Willott RH 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

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

Morimoto S

Circulation Research, 2009

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

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

Role of troponin T in disease.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Different functional properties of troponin T mutants that cause dilated cardiomyopathy.

Venkatraman G et al.

The Journal of Biological Chemistry, 2003

[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."