Hearing loss due to mutations in the connexin gene family, which encodes gap junctional
proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) …

Gap-junction channels connect the cytoplasm of adjacent cells, allowing the diffusion of ions
and small metabolites. They are formed at the appositional plasma membranes by a family …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Connexin molecules form intercellular membrane channels facilitating electronic coupling
and the passage of small molecules between adjoining cells. Connexin26 (Cx26) is the …

The inner ear is a very complex sensory organ whose development and function depend on
finely balanced interactions among diverse cell types. The many different kinds of inner ear …

Eur J Clin Invest 2010; 41 (1): 103–116 Abstract Background Connexins are a family of
transmembrane proteins that are widely expressed in the human body. Connexins play an …

Normal development, function and repair of the sensory epithelia in the inner ear are all
dependent on gap junctional intercellular communication. Mutations in the connexin genes …

Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive
sensorineural hearing loss. The classification of c. 101T> C/p. Met34Thr and c. 109G> A/p …

Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …

The importance of electrical and molecular signaling through connexin (Cx) channels is now
widely recognized. The transfer of ions and other small molecules between adjacent cells is …