Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E99K
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ACTG1

NM_001614.5:p.E99K

Associated Papers

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

Micheu MM et al.

World Journal of Stem Cells, 2021

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

Debold EP et al.

Journal of Molecular and Cellular Cardiology, 2010

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

Bookwalter CS et al.

The Journal of Biological Chemistry, 2006

Expression of actin mutants to study their roles in cardiomyopathy.

Rutkevich LA et al.

Canadian Journal of Physiology and Pharmacology, 2006

Actin binding proteins: regulation of cytoskeletal microfilaments.

dos Remedios CG et al.

Physiological Reviews, 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."