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Article

Mechanism of the defect in gap-junctional communication by expression of a connexin 26 mutant associated with dominant deafness.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Sept 2005

Chen Y, Deng Y, Bao X, Reuss L, Altenberg G A

Abstract excerpt

Gap-junctional channels (connexin oligomers) are large-diameter aqueous pores formed by head-to-head association of two gap-junctional hemichannels, one from each of the adjacent cells. Profound hearing loss of genetic origin is common, and mutations of connexin 26 (Cx26) are the most frequent cause of this disorder. The Cx26 R75W mutant has been associated with disruption of cell-to-cell communication and...

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PMID: 16009703
DOI: 10.1096/fj.04-3491fje

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