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Article

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.

American journal of physiology. Cell physiology - 1 Jul 2007

Gerido Dwan A, DeRosa Adam M, Richard Gabriele, White Thomas W

Abstract excerpt

Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease. While it has proven difficult to discern the exact pathological mechanisms that cause these disorders, studies have shown that the loss or abnormal function of Cx26 protein has a profound effect on tissue homeostasis. Here, we used the Xenopus oocyte expression system to examine the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17428836
DOI: 10.1152/ajpcell.00626.2006

Genes

GJB2

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Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.PMID 17428836Read ↗

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