Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D190H
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TNNI3

NM_000363.5:p.D190H

Associated Papers

Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.

Jin Y et al.

Frontiers in Cardiovascular Medicine, 2024

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

Chintanaphol M et al.

Reviews in Cardiovascular Medicine, 2022

New insights provided by myofibril mechanics in inherited cardiomyopathies.

Lin YH et al.

Conditioning Medicine, 2019

Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.

Hwang JW et al.

Korean Circulation Journal, 2017

Genetic cardiomyopathies causing heart failure.

Cahill TJ et al.

Circulation Research, 2013

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

Liu B 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

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

Cardiac troponin mutations and restrictive cardiomyopathy.

Parvatiyar MS et al.

Journal of Biomedicine & Biotechnology, 2010

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

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

Mogensen J et al.

The Journal of Clinical Investigation, 2003

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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."