Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D190G
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TNNI3

NM_000363.5:p.D190G

Associated Papers

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

Han D et al.

Animal Cells and Systems, 2025

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

Gerber D et al.

Pediatric Discovery, 2024

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

Chintanaphol M et al.

Reviews in Cardiovascular Medicine, 2022

Genetic predisposition study of heart failure and its association with cardiomyopathy.

Kaviarasan V et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2022

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.

Keyt LK et al.

Frontiers in Cardiovascular Medicine, 2022

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.

Kim KH et al.

Korean Circulation Journal, 2021

Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

Cimiotti D et al.

International Journal of Molecular Sciences, 2021

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

Pantou MP et al.

Bmc Medical Genetics, 2019

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

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

Liu X et al.

Frontiers in Physiology, 2016

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

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

Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy.

Li Y 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

Cardiac troponin mutations and restrictive cardiomyopathy.

Parvatiyar MS et al.

Journal of Biomedicine & Biotechnology, 2010

Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.

Wen Y et al.

Journal of Molecular Biology, 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

Sarcomeric proteins and inherited cardiomyopathies.

Morimoto S

Cardiovascular Research, 2008

Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

Kubo T et al.

Journal of the American College of Cardiology, 2007

Is there a common genetic basis for all familial cardiomyopathies?

Perrot A et al.

European Journal of Heart Failure, 2007

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.

Du J et al.

Archives of Biochemistry and Biophysics, 2006

Genetic engineering and therapy for inherited and acquired cardiomyopathies.

Day S et al.

Annals of the New York Academy of Sciences, 2006

Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

Yumoto F et al.

Biochemical and Biophysical Research Communications, 2005

Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.

Gomes AV et al.

The Journal of Biological Chemistry, 2005

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

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

Mogensen J et al.

The Journal of Clinical Investigation, 2003

Chondroid and Osseous Metaplasia of the Central Fibrous Body in Adolescent Hearts with Mutations in TNNI3 and TNNT2 genes.

Carreon CK et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."