Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.D175N
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SLC3A2

NM_001013251.3:p.D175N

Associated Papers

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

The Utility of Nuclear Imaging in Hypertrophic Cardiomyopathy: A Narrative Review.

Pradeep Kundur S et al.

Journal of Clinical Medicine, 2025

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

Mason AB et al.

Jci Insight, 2021

Cardiomyopathy-associated mutations in tropomyosin differently affect actin-myosin interaction at single-molecule and ensemble levels.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2019

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

Functional significance of HCM mutants of tropomyosin, V95A and D175N, studied with in vitro motility assays.

Ishii S et al.

Biophysics and Physicobiology, 2019

Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.

Ojala M et al.

Stem Cells International, 2016

A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.

Bai F et al.

Journal of Muscle Research and Cell Motility, 2013

Alpha-tropomyosin mutations in inherited cardiomyopathies.

Redwood C et al.

Journal of Muscle Research and Cell Motility, 2013

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.

Bai F et al.

Biophysical Journal, 2011

Role of animal models in HCM research.

Shephard R et al.

Journal of Cardiovascular Translational Research, 2009

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade.

Michele DE et al.

Circulation Research, 2002

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation.

Hernandez OM et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2001

Animal models of hypertrophic cardiomyopathy.

Maass A et al.

Current Opinion in Cardiology, 2000

Regulation of contraction in striated muscle.

Gordon AM et al.

Physiological Reviews, 2000

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes.

Michele DE et al.

Nature Medicine, 1999

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy.

Redwood CS et al.

Cardiovascular Research, 1999

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

Watkins H et al.

The New England Journal of Medicine, 1995

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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."