Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic
cause of combined hearing and vision loss. USH is classified into three types, based on the …

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

To serve vision, vertebrate rod and cone photoreceptors must detect photons, convert the
light stimuli into cellular signals, and then convey the encoded information to downstream …

Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by
sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to
the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary …

Defects in primary cilia lead to devastating disease because of their roles in sensation and
developmental signaling but much is unknown about ciliary structure and mechanisms of …

Whereas the mechanisms underlying hearing impairment in USH patients are being
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair …

The PDZ domain is a protein–protein interacting module that plays an important role in the
organization of signaling complexes. The recognition of short intrinsically disordered C …