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 an autosomal recessive syndromic ciliopathy characterized by
sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction …

The vertebrate inner ear is a sensory organ of exquisite design and sensitivity. It responds to
sound, gravity and movement, serving both auditory (hearing) and vestibular (balance) …

Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …

Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal
recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms …

The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular
transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and …

Our ears are remarkable sensory organs, providing the important senses of balance and
hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted …

Hearing loss is a significant public health concern, affecting over 250 million people
worldwide. Both genetic and environmental etiologies are linked to hearing loss, but in many …

The non-conventional neurotrophic factor mesencephalic astrocyte-derived neurotrophic
factor (MANF) is an endoplasmic reticulum (ER)-resident protein that promotes ER …

Coatomer complexes function in the sorting and trafficking of proteins between subcellular
organelles. Pathogenic variants in coatomer subunits or associated factors have been …