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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC).Expand
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Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
Mutations in genes encoding sarcomeric proteins cause hypertrophic cardiomyopathy (HCM). The sarcomeric protein actin plays a central, dual role in cardiac myocytes, generating contractile force byExpand
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Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
CONTEXT Dilated cardiomyopathy (DCM), a genetically heterogeneous disorder, causes heart failure and rhythm disturbances. The majority of identified DCM genes encode structural proteins of theExpand
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Metavinculin Mutations Alter Actin Interaction in Dilated Cardiomyopathy
Background—Vinculin and its isoform metavinculin are protein components of intercalated discs, structures that anchor thin filaments and transmit contractile force between cardiac myocytes. We testedExpand
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Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.
Atrial fibrillation is a rhythm disorder characterized by chaotic electrical activity of cardiac atria. Predisposing to stroke and heart failure, this common condition is increasingly recognized as aExpand
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Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
Proteins in cardiac myocytes assemble into contractile units known as sarcomeres. Contractile force is generated by interaction between sarcomeric thick and thin filaments. Thin filaments alsoExpand
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Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
OBJECTIVES We sought to identify a novel gene for dilated cardiomyopathy (DCM). BACKGROUND DCM is a heritable, genetically heterogeneous disorder that remains idiopathic in the majority ofExpand
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ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (KATP) channels that adjust membrane potential–dependent functions to match cellular energeticExpand
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Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
Atrial fibrillation is a common arrhythmia that is hereditary in a small subgroup of patients. In a family with 11 clinically affected members, we mapped an atrial fibrillation locus to chromosomeExpand
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Gene Mutations in Apical Hypertrophic Cardiomyopathy
Background— Nonobstructive hypertrophy localized to the cardiac apex is an uncommon morphological variant of hypertrophic cardiomyopathy (HCM) that often is further distinguished by distinct giantExpand
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