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- ABCC9 mutations identified in human dilated cardiomyopathy disrupt . . .
Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardiomyopathy identified two mutations in ABCC9, which encodes the regulatory SUR2A subunit of the cardiac K ATP channel
- ABCC9 mutations identified in human dilated cardiomyopathy disrupt . . .
hannels in human heart disease Here, we report the first mutations in ABCC9, encoding SUR2A Identified in individuals with idiopathic dilated cardiomy-opathy, these defects in the regulatory
- Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic . . .
In this study, the authors sought to elucidate whether the coexistence of other cardiovascular disease (CVD)–related variants is associated with progression to end-stage HCM in patients with HCM harboring pathogenic or likely pathogenic (P LP) sarcomeric variants
- An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and . . .
We performed a genome-wide association study for SCDY DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene ABCC9 Sanger sequencing revealed an ABCC9 p R1186Q variant present in a homozygous state in all SCDY DCM-affected dogs (n = 26)
- Abcc9 is required for the transition to oxidative metabolism in the . . .
We now deleted exon 5 of Abcc9 to ablate expression of both plasma membrane and mitochondria-associated Abcc9-encoded proteins, and found that the myocardium failed to acquire normal mature metabolism, resulting in neonatal cardiomyopathy
- Hypertrophic Cardiomyopathy: Clinical Update - JACC: Heart Failure
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect ∼1 of 500 people (Online Ref 1), with recent investigations suggesting even greater prevalence (1) Diagnosis can be challenging given phenotypic heterogeneity
- ABCC9 is a novel Brugada and early repolarization syndrome . . .
Here we test the hypothesis that genetic variants in ABCC9, encoding the ATP-binding cassette transporter of I K-ATP (SUR2A), are also associated with both BrS and ERS Direct sequencing of all ERS BrS susceptibility genes was performed on 150 probands and family members
- Current management of hypertrophic cardiomyopathy | The BMJ
Hypertrophic cardiomyopathy is a common yet under-recognized genetic structural heart condition characterized by left ventricular hypertrophy Patients may present with obstructive disease characterized by an elevated left ventricular outflow tract gradient or non-obstructive disease
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