Mutation of the GJB2 gene, which encodes the connexin 26 (Cx26) gap junction (GJ)
protein, is the most common cause of hereditary, sensorineural hearing loss. Cx26 is not …

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

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 …

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 …

Mutations in the GJB2 gene, which encodes Cx26, are the most common cause of
sensorineural deafness. In syndromic cases, such as keratitis-ichthyosis-deafness (KID) …

A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26)
hemichannels produce aberrant channel activity, which gives rise to deafness and skin …

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 …

Abstract Objectives: Mutations in connexin (Cx) 26 are the most common cause of
nonsyndromic hereditary hearing impairments. Our goal is to investigate molecular …

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 …