Article
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness.
Cell communication & adhesion - 1 Jan 2001
Bruzzone R, Gomès D, Denoyelle E, Duval N, Perea J, Veronesi V, Weil D, Petit C, Gabellec M M, D'Andrea P, White T W
Abstract excerpt
Cx26 has been implicated in dominant (DFNA3) and recessive (DFNB1) forms of nonsyndromic sensorineural deafness. While most homozygous DFNB1 Cx26 mutations result in a simple loss of channel activity, it is less clear how heterozygous mutations in Cx26 linked to DFNA3 cause hearing loss. We have tested the ability of one dominant mutation (W44C) to interfere with wild-type human Cx26 (HCx26wt). HCx26wt induced...
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