Calcium-selective channel TRPV6 (Transient Receptor Potential channel family, Vanilloid
subfamily member 6) belongs to the TRP family of cation channels and plays critical roles in …

Prestin, the motor protein of cochlear outer hair cells, was identified 14 years ago. Prestin-
based outer hair cell motility is responsible for the exquisite sensitivity and frequency …

Iodine deficiency affects an estimated 241 million school-aged children in the world. Little is
known about iodine deficiency in relation to auditory function, except for the fact that deaf …

Objectives: Describe the typical presentation and physical examination of patients with
genetic hearing loss. Summarize the different inheritance patterns of genetic hearing loss …

Abstract Solute carrier family 26 (SLC26) is a family of functionally diverse anion
transporters found in all kingdoms of life. Anions transported by SLC26 proteins include …

Molecular mechanisms governing the development of the human cochlea remain largely
unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c …

Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the
prevalence of different HL forms significantly varies among populations worldwide …

OBJECTIVES: SLC26A4 (PDS) mutations are common cause of congenital hearing loss in
East Asia. Hearing loss caused by PDS mutations tends to have delayed presentation; thus …

Thyroid hormone is essential for inner ear development and is required for auditory system
maturation. Human mutations in SLC26A4 lead to a syndromic form of deafness with …