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

The retinal pigment epithelium (RPE) forms the outer blood–retina barrier and facilitates the
transepithelial transport of glucose into the outer retina via GLUT1. Glucose is metabolized …

Immune checkpoint (IC) therapy provides substantial benefits to cancer patients but can also
cause distinctive toxicities termed immune-related adverse events (irAEs). Biomarkers to …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …

Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

Whole exome sequencing (WES) is a powerful technique for identifying sequence changes
in the human genome. The goal of this study was to delineate the genetic defects in patients …

An extracellular network of molecular chaperones protects a diverse array of proteins that
reside in or pass through extracellular spaces. Proteins in the extracellular milieu face …

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited
retinal disorder characterized by photoreceptor cell death and genetic heterogeneity …

BRI2 is a type II transmembrane protein ubiquitously expressed whose physiological
function remains poorly understood. Although several recent important advances have …