Expression of connexin 26
and Na, K-ATPase in the developing mouse cochlear lateral wall: functional implications.
A novel connexin 26
compound heterozygous mutation results in deafness.
To create mice with hearing loss, the researchers deleted the connexin 26
Hearing loss and connexin 26
. J R Soc Med 2002;95:171-7.
Boyle, "GJB2 (connexin 26
) variants and nonsyndromic sensorineural hearing loss: a HuGE review," Genetics in Medicine, vol.
Connexin 30 and connexin 26
are upregulated in psoriatic skin and have been associated with epidermal hyperproliferation [99, 102, 103].
In 2003, researchers from Italy identified autoantibodies produced in CS patients against a "Cogan peptide," which shared homology with laminin, connexin 26
, cell density-enhanced protein tyrosine phosphatase-1 (DEP-1/CD148), SSA/Ro, and reovirus III major core protein lambda 1.
mutations in hereditary non-syndromic sensorineural deafness.
A somatic mutation in the GJB2 gene, which encodes the gap junction protein connexin 26
, has recently been implicated in the pathogenesis of PEODDN.
Reported mutations occur more frequently in GJB2 gene, which encodes the gap junction protein connexin 26
(beta 2, GJB2) .
GJB2 encodes the gap junction protein Connexin 26
(CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
In mice with a deletion of connexin 26
, prenatal or postnatal supplementation with beta-carotene, vitamins C and E, and magnesium slowed hearing loss progression and improved hearing thresholds.