The implementation of universal screening programs to detect hearing defects in newborns
has dramatically increased the identification of hearing loss in infants. Recent advances in …

Compared to terrestrial animals, fish have to cope with more-challenging osmotic and ionic
gradients from aquatic environments with diverse salinities, ion compositions, and pH …

Cranial placodes are specialized regions of the ectoderm, which give rise to various sensory
ganglia and contribute to the pituitary gland and sensory organs of the vertebrate head …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

The kidneys have a central role in the control of acid–base homeostasis owing to
bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule …

A primary function of the H+-ATPase (or V-ATPase) is to create an electrochemical proton
gradient across eukaryotic cell membranes, which energizes fundamental cellular …

METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their
unaffected relatives from 31 families. A total of 84% of these families were Caucasian …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …

Cystic fibrosis (CF) is caused by defects in an anion channel, the cystic fibrosis
transmembrane conductance regulator (CFTR). Recently, a new airway epithelial cell type …