The P23H mutation within the rhodopsin gene (RHO) causes rhodopsin misfolding, endoplasmic reticulum (ER) stress, and activates the unfolded protein response (UPR), leading to rod photoreceptor ...

Rhodopsin, a pigment of the retina that is responsible for perception of light is also involved in temperature sensation. The work emerged from a collaboration between the laboratory of Andrew Chess, ...

The interpretation of genetic information has always been challenging, but next-generation sequencing produces data on such a vast scale that many more variants of uncertain pathogenicity will be ...

This is a preview. Log in through your library . Abstract The chromophore of visual pigments is 11-cis-retinal and, thus, in its absence, opsin is not photosensitive and no visual function exists.