Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Myopia is the most common eye disorder, caused by heterogeneous genetic and
environmental factors. Rare progressive and stationary inherited retinal disorders are often …

Recent success in functional recovery by photoreceptor precursor transplantation in
dysfunctional retina has led to an increased interest in using embryonic stem cell (ESC) or …

Ca V 1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of
skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type …

Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene
mutations predominantly affecting males who develop early-onset muscle degeneration …

Retinal bipolar cells (BCs) compose the canonical vertical excitatory pathway that conveys
photoreceptor output to inner retinal neurons. Although synaptic transmission from BC …

During retinal development, ribbon synapse assembly in the photoreceptors is a crucial step
involving numerous molecules. While the developmental sequence of plexiform layers in …

Cacna1s encodes the α1S subunit (Cav1. 1) of voltage-dependent calcium channels, and is
required for normal skeletal and cardiac muscle function, where it couples with the …

An increase in light intensity induces a depolarization in retinal ON-bipolar cells via a
reduced glutamate release from presynaptic photoreceptor cells. The underlying …

Mef2 transcription factors play a crucial role in cardiac and skeletal muscle differentiation.
We found that Mef2d is highly expressed in the mouse retina and its loss causes …