TMEM16 proteins, also known as anoctamins, are involved in a variety of functions that
include ion transport, phospholipid scrambling, and regulation of other membrane proteins …

Muscular dystrophies are a heterogeneous group of inherited disorders that share similar
clinical features and dystrophic changes on muscle biopsy. An improved understanding of …

Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Asymmetrical distribution of phospholipids between the inner and outer plasma membrane
leaflets is disrupted in various biological processes. We recently identified TMEM16F, an …

Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle
disorders, which first affect the voluntary muscles of the hip and shoulder areas. The …

Endothelial cells (ECs) normally form an anticoagulant surface under physiological
conditions, but switch to support coagulation following pathogenic stimuli. This switch …

The TMEM16 family of membrane proteins displays a remarkable functional dichotomy–
while some family members function as Ca 2+-activated anion channels, the majority of …

The muscular dystrophies are a group of heterogeneous genetic diseases characterized by
progressive degeneration and weakness of skeletal muscle. Since the discovery of the first …

In this study, we combined linkage analysis with whole-exome sequencing of two individuals
to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal …

Disruption of the plasma membrane often accompanies cellular injury, and in muscle,
plasma membrane resealing is essential for efficient recovery from injury. Muscle …