Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …

Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …

Cyclic nucleotide-gated (CNG) channels are ion channels which are activated by the
binding of cGMP or cAMP. The channels are important cellular switches which transduce …

RNA interference (RNAi) can be used to inhibit the expression of specific genes in vitro and
in vivo, thereby providing an extremely useful tool for investigating gene function. Progress …

Although Cas9-mediated genome editing has been widely used to engineer alleles in
animal models of human inherited diseases, very few homology-directed repair (HDR) …

The first step in vision is the absorption of photons by the photopigments in cone and rod
photoreceptors. After initial amplification within the phototransduction cascade the signal is …

The purpose of the present study was to test the therapeutic efficiency and safety of
compacted-DNA nanoparticle-mediated gene delivery into the subretinal space of a juvenile …

Retinitis pigmentosa (RP) is one of the most genetically heterogeneous inherited disorders.
Twelve genes have now been identified in the autosomal dominant form of the disease …

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal
diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) …

The purpose of this study was to investigate the presence of oxidative DNA damage in the
photoreceptors of the rd1 mouse, an animal model for retinitis pigmentosa, and to determine …