Condition: Atrial Septal Defect 5
rs121912673 in
ACTC1;LOC101928174 gene and
Atrial Septal Defect 5
PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.
PMID 22590617 2012 Subdomain location of mutations in cardiac actin correlate with type of functional change.
PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.
PMID 9563954 1998 Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.
PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.
rs121912677 in
LOC101928174;ACTC1 gene and
Atrial Septal Defect 5
PMID 17947298 2008 Alpha-cardiac actin mutations produce atrial septal defects.