Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder, and a
common cause of preventable intellectual disability and neurological alterations, affecting …

Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes
of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator …

Importance Approximately one-half of all subjects with unilateral or bilateral hearing loss
with enlargement of the vestibular aqueduct (EVA) will haveSLC26A4gene mutations. The …

Background: We recently reported that aquaporin 5 (AQP5), a water channel never identified
in the kidney before, co-localizes with pendrin at the apical membrane of type-B intercalated …

Objective: Evaluation of the effectiveness of imaging and genetic testing, and establishment
of a cost-effective diagnostic protocol for the etiologic diagnosis of sensorineural hearing …

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

Background: The anion exchanger pendrin (SLC26A4) is required for proper development
of the inner ear, and contributes to iodide organification in thyroid glands as well as anion …

Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in
humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 …

Hypertension affects 30% of adults and is the leading risk factor for cardiovascular disease.
Kidney sodium reabsorption plays a vital role in the initial stage and development of …

Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …