Most secretory proteins travel through a well-documented conventional secretion pathway
involving the endoplasmic reticulum (ER) and the Golgi complex. However, recently, it has …

Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Background: An in-depth understanding of the fundamental principles that regulate thyroid
hormone homeostasis is critical for the development of new diagnostic and treatment …

Research in the genetics of hearing and deafness has evolved rapidly over the past years,
providing the molecular foundation for different aspects of the mechanism of hearing …

Bicarbonate is one of the major anions in mammalian tissues and fluids, is utilized by
various exchangers to transport other ions and organic substrates across cell membranes …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome
to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of …

Background Mutations in SLC26A4, which encodes pendrin, are a common cause of
deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic …

Hearing impairments are the most common symptom of congenital defects, and they
generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic …

Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …