RNA Binding Protein with Multiple Splicing (RBPMS) Promotes Contractile Phenotype Splicing in Human Embryonic Stem Cell-Derived Vascular Smooth Muscle Cells

The Critical Role of RNA-Binding Protein RBPMS in Vascular Smooth Muscle Cells Academic Background Vascular Smooth Muscle Cells (VSMCs) are the primary structural components of large arteries. In healthy blood vessels, VSMCs exhibit a mature contractile phenotype, responsible for regulating vascular tone and blood flow. However, VSMCs possess pheno...

Biallelic Variants in SNUPN Cause a Limb Girdle Muscular Dystrophy with Myofibrillar-like Features

Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...