Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Primary congenital hypothyroidism (CH) is the most common endocrine disease in children
and one of the most common preventable causes of both cognitive and motor deficits. CH is …

Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Melatonin is a pleiotropic biofactor and an effective antioxidant and free radical scavenger
and, as such, can be protective in oxidative stress‐related brain conditions including …

Objectives: To provide an overview of the main evidence-based recommendations for the
diagnosis of hearing loss in children and adolescents aged 0 to 18 years. Methods: Task …

The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes
for the anion exchanger pendrin, are population-specific and account for at least 50% of …

Abstract Background/Aims: Pendrin is a Cl-/I-/HCO3-exchanger playing a fundamental role
in controlling blood pressure and airway function, therefore representing an attractive target …

Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …