Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

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 …

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 …

The human genome contains hundreds of regions whose patterns of genetic variation
indicate recent positive natural selection, yet for most the underlying gene and the …

Identifying targets of positive selection in humans has, until recently, been frustratingly slow,
relying on the analysis of individual candidate genes. Genomics, however, has provided the …

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

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Usher syndrome type 1 F (USH1F), caused by mutations in the protocadherin-15 gene
(PCDH15), is characterized by congenital deafness, lack of balance, and progressive …

Hearing loss (HL) is the most prevalent sensory impairment in both childhood and
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …

Reactive oxygen species (ROS) production is involved in several apoptotic and necrotic cell
death pathways in auditory tissues. These pathways are the major causes of most types of …