Mutations in Cx26 gene are found in most cases of human genetic deafness. Some
mutations produce syndromic deafness associated with skin disorders, like the Keratitis …

Mutations in the human gene encoding connexin 26 (Cx26 or GJB2) cause either
nonsyndromic deafness or syndromic deafness associated with skin diseases. That distinct …

Mutations in the GJB2 gene-encoding connexin 26 (Cx26) have been linked to skin
disorders and genetic deafness. However, the severity and type of the skin disorders caused …

Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various
forms of hereditary deafness and skin disease. While it has proven difficult to discern the …

Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function
mutations and cause nonsyndromic deafness. Some mutations produce a gain of function …

Connexin (Cx) proteins form intercellular gap junction channels by first assembling into
single membrane hemichannels that then dock to connect the cytoplasm of two adjacent …

Gap junctions allow the exchange of ions and small molecules between adjacent cells
through intercellular channels formed by connexin proteins, which can also form functional …

Mutations in GJB2 (connexin [Cx] 26) cause either deafness or deafness associated with
skin diseases. That different disorders can be caused by distinct mutations within the same …

We examined the subcellular localization and function of several Cx26 mutants that exhibit
both sensorineural deafness and various skin disease phenotypes. To facilitate these aims …

Mutations in GJB2, which encodes Cx26, are one of the most common causes of inherited
deafness in humans. More than 100 mutations have been identified scattered throughout the …