Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone
outer segments. The relevance of this protein to photoreceptor outer segment morphology …

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 …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

The rd mouse, an accepted animal model for photoreceptor degeneration in retinitis
pigmentosa, has a recessive mutation for the gene encoding the β-subunit of the cGMP …

Abstract The World-Wide Web provides a globally distributed communication framework that
is essential for almost all scientific collaboration, including bioinformatics. However, several …

Apoptosis is the mode of cell death in retinitis pigmentosa, a group of retinal degenerative
disorders primarily affecting rod photoreceptors. Although caspases have been …

Luteinizing hormone receptor and follicle stimulating hormone receptor play a crucial role in
female and male reproduction. Significant new information has emerged about the structure …

Purpose: To provide a comprehensive overview of the molecular basis of autosomal
dominant retinitis pigmentosa (adRP) in Spanish families. Thus, we established the …

Mutations in the peripherin/RDS gene, which encodes a photoreceptor‐specific membrane
glycoprotein, have been identified in a variety of retinal phenotypes. However, the …

Tetraspanins (Tspans) comprise a membrane protein family structurally defined by four
transmembrane domains and intracellular N and C termini that is found in almost all cell …