Mutations in connexin 26 (Cx26) cause hearing disorders of a varying degree. Herein, to identify compounds capable restoring the function mutated Cx26, novel miniaturized microarray-based screening system was developed perform an optical assay Cx26 functionality. These molecules were identified through viability using HeLa cells expressing wild-type (WT) which exhibited sensitivity toward HSP90...

Intercellular connexin channels (gap junction channels) have long been thought to mediate molecular signaling between cells, but the nature of the signaling has been unclear. This study shows that connexin channels from native tissue have selective permeabilities, partially based on pore diameter, that discriminate among cytoplasmic second messenger molecules. Permeability was assessed by measu...

Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235del...

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 gen...