Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Sáez, Juan C., Viviana M. Berthoud, María C. Brañes, Agustín D. Martínez, and Eric C.
Beyer. Plasma Membrane Channels Formed by Connexins: Their Regulation and Functions …

Astrocytes play active roles in brain physiology by dynamic interactions with neurons.
Connexin 30, one of the two main astroglial gap-junction subunits, is thought to be involved …

Humans have over 70 potassium channel genes, but only some of these have been linked
to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations …

Gap junctions are clustered channels between contacting cells through which direct
intercellular communication via diffusion of ions and metabolites can occur. Two …

Hearing loss is the most common form of sensory impairment in humans and affects more
than 40 million people in the United States alone. No drug-based therapy has been …

Background Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50
percent of all patients with autosomal recessive nonsyndromic prelingual deafness in …

Sensory transduction in the cochlea and the vestibular labyrinth depends on the cycling of
K+. In the cochlea, endolymphatic K+ flows into the sensory hair cells via the apical …

Gap junctions and hemichannels comprised of connexins impact many cellular processes.
Significant advances in our understanding of the functional role of these channels have …

Ion channels serve many functions apart from electrical signal transduction: chemical
signalling (Ca2+ as a second messenger), transepithelial transport, regulation of …