Ontology highlight
ABSTRACT:
SUBMITTER: Yum SW
PROVIDER: S-EPMC2868926 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Yum Sabrina W SW Zhang Junxian J Scherer Steven S SS
Neurobiology of disease 20100121 2
Dominant mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause hearing loss. We investigated whether dominant Cx26 mutants interact directly with Cx30. HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemist ...[more]