Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory
mechanism in eukaryotic gene expression that controls the proper function of proteins. It is …

The “super-relaxed state”(SRX) of myosin represents a 'reserve'of motors in the heart.
Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate …

The cardiovascular system comprises multiple cell types that possess the capacity to
modulate their phenotype in response to acute or chronic injury. Transcriptional and post …

Gene expression is needed for the maintenance of heart function under normal conditions
and in response to stress. Each cell type of the heart has a specific program controlling …

RNA splicing represents a post-transcriptional mechanism to generate multiple functional
RNAs or proteins from a single transcript. The evolution of RNA splicing is a prime example …

Mutations in the cardiac splicing factor RBM20 lead to malignant dilated cardiomyopathy
(DCM). To understand the mechanism of RBM20-associated DCM, we engineered isogenic …

Proteomics is a systems physiology discipline to address the large-scale characterization of
protein species within a biological system, be it a cell, a tissue, a body biofluid, an organism …

Aims In the heart, splicing factors orchestrate the functional properties of cardiomyocytes by
regulating the alternative splicing of multiple genes. Work in embryonic stem cells has …

For clinicians grappling with quantifying the complex spatial and temporal patterns of
cardiac structure and function (such as myocardial trabeculae, coronary microvascular …