A5091520528- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Genetics and Physical Performance
- Muscle Physiology and Disorders
- Cardiac Arrhythmias and Treatments
- Genomics and Rare Diseases
- Cardiovascular Function and Risk Factors
- Cardiac Valve Diseases and Treatments
- Heart Failure Treatment and Management
- Cardiovascular Disease and Adiposity
- Genetic Associations and Epidemiology
- MicroRNA in disease regulation
- Diabetes Treatment and Management
- Chemotherapy-induced cardiotoxicity and mitigation
- RNA Research and Splicing
- Cardiac Imaging and Diagnostics
- Pancreatic function and diabetes
- Cancer-related molecular mechanisms research
- Atrial Fibrillation Management and Outcomes
- Genomic variations and chromosomal abnormalities
- Circular RNAs in diseases
Victor Chang Cardiac Research Institute
2012-2024
BACKGROUND: Exercise-induced cardiac remodeling can be profound, resulting in clinical overlap with dilated cardiomyopathy, yet the significance of reduced ejection fraction (EF) athletes is unclear. The aim to assess prevalence, consequences, and genetic predisposition EF athletes. METHODS: Young endurance were recruited from elite training programs underwent comprehensive phenotyping testing. Those using magnetic resonance imaging (defined as left ventricular <50%, or right <45%,...
MicroRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate gene expression. Sequential cleavage of miRNA precursors results in a ~22 nucleotide duplex which one strand, the mature miRNA, is typically loaded into RNA-induced silencing complex (RISC) while passenger strand degraded. Very little known about how genetic variation might affect biogenesis and function.We re-sequenced MIR1-1, MIR1-2, MIR133A1, MIR133A2, MIR133B genes, encode cardiac-enriched miRNAs, miR-1...
Background: KCNMA1 encodes the α-subunit of large-conductance Ca 2+ -activated K + channel, 1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into cardiac functions 1.1 are limited, has not been investigated as an AF candidate gene. Methods: The gene was sequenced in 118 patients with familial AF. role normal structure function evaluated humans, mice, zebrafish, fly. A novel variant functionally characterized. Results: complex identified 1 kindred To evaluate...
Background: Variants in the DMD gene, that encodes cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates heart failure, transplantation, and ventricular arrhythmias. Improved early detection individuals at risk is needed. Methods: Genetic testing 40 male probands potential X-linked genetic primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, array comparative genomic hybridization....
The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics resolve variants uncertain significance (VUS) in clinical management patients families with cardiomyopathies, primary arrhythmias, congenital heart disease (CHD).
Abstract Atrial cardiomyopathy is characterized by electrical and structural remodeling of the atria, which can predispose to arrhythmias thromboembolic stroke. Changes in atrial size function are frequently observed athletes engaged endurance sports, a phenomenon known as “athlete’s heart.” Common left observations may include larger volumes but lower atrioventricular volume ratios, mildly reduced strain, possible mild fibrosis, longer P-wave duration, greater ectopic activity. However, it...
ABSTRACT Background KCNMA1 encodes the α-subunit of large-conductance Ca 2+ -activated K + channel, 1.1, and lies within a linkage interval for atrial fibrillation (AF). Insights into cardiac functions 1.1 are limited has not been investigated as an AF candidate gene. Methods Results sequencing in 118 patients with familial identified novel complex variant one kindred. To evaluate potential disease mechanisms, we first evaluated distribution normal hearts using immunostaining immunogold...