Sensorineural hearing impairment is the most common sensory disorder and a major health
and socio-economic issue in industrialized countries. It is primarily due to the degeneration …

Intercalated cells (ICs) are found in the connecting tubule and the collecting duct. Of the
three IC subtypes identified, type B intercalated cells are one of the best characterized and …

The dilemma of how to categorize and classify diseases has been debated for centuries.
The field of medical genetics has historically approached nosology based on clinical …

Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH),
however familial forms are uncommon. CH can be due to morphogenetic or functional …

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 …

Thyroid peroxidase (TPO) is the key enzyme involved in thyroid hormone synthesis.
Autoantibodies to TPO (TPOAbs) are a hallmark of autoimmune thyroid disease (AITD) …

Aim Cystic fibrosis patients have an increased risk of developing metabolic alkalosis
presumably as a result of altered renal HCO3− handling. In this study, we directly assess the …

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 …

Background: Perchlorate-induced natrium-iodide symporter (NIS) interference is a well-
recognized thyroid disrupting mechanism. It is unclear, however, whether a chronic low …

Iodide transport and storage in the thyroid follicles is crucial for thyroid hormone synthesis.
Pendrin, the iodide exporter that transports iodide to thyroid follicles, is responsible for …