Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Because there are currently no biological treatments for hearing loss, we sought to advance
gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a …

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 …

Hair cells of the inner ear are mechanosensors that transduce mechanical forces arising
from sound waves and head movement into electrochemical signals to provide our sense of …

Mechanotransduction—a cell's conversion of a mechanical stimulus into an electrical signal—
reveals vital features of an organism's environment. From hair cells and skin …

Although human epidemiological and genetic studies are essential to elucidate the
aetiology of normal and aberrant ocular development, animal models have provided us with …

Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked
mode of inheritance and an unusual expression pattern. Disorders arising from mutations on …

Cadherins are Ca2+-dependent cell-cell adhesion molecules that play critical roles in
animal morphogenesis. Various cadherin-related molecules have also been identified …