Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other healthcare providers to help them provide quality medical …

Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics
within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six …

Inner ear disorders are among the most common congenital abnormalities; however, current
tissue culture models lack the cell type diversity to study these disorders and normal otic …

The Food and Drug Administration–approved drug sirolimus, which inhibits mechanistic
target of rapamycin (mTOR), is the leading candidate for targeting aging in rodents and …

The stria vascularis (SV) generates the endocochlear potential (EP) in the inner ear and is
necessary for proper hair cell mechanotransduction and hearing. While channels belonging …

Importance In the US, most childhood-onset bilateral sensorineural hearing loss is genetic,
with more than 120 genes and thousands of different alleles known. Primary treatments are …

At least two per thousand newborns are affected by hearing loss, with up to 40% with an
additional disability. Early identification by universal newborn hearing screening and early …

Sensorineural hearing loss and vestibular dysfunction are caused by damage to neurons
and mechanosensitive hair cells, which do not regenerate to any clinically relevant extent in …

Meniere's disease (MD) is a clinical spectrum of rare disorders characterized by vertigo
attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to …