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

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 …

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 …

The identification of genes predisposing to familial cancer is an essential step towards
understanding the molecular events underlying tumorigenesis and is critical for the clinical …

Myosins constitute a large superfamily of actin-dependent molecular motors. Phylogenetic
analysis currently places myosins into 15 classes. The conventional myosins which form …

Potassium channels regulate electrical signaling and the ionic composition of biological
fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene …

Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an
autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense …

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

Mammals have an astonishing ability to sense and discriminate sounds of different
frequencies and intensities. Fundamental for this process are mechanosensory hair cells in …