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 ...

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 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 ...