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Cataract-Causing Mutation of Human Connexin 46 Impairs Gap Junction, but Increases Hemichannel Function and Cell Death

Connexin channels play a critical role in maintaining metabolic homeostasis and transparency of the lens. Mutations in connexin genes are linked to congenital cataracts in humans. The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts...

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Detalhes bibliográficos
Main Authors: Ren, Qian, Riquelme, Manuel A., Xu, Ji, Yan, Xiang, Nicholson, Bruce J., Gu, Sumin, Jiang, Jean X.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3760834/
https://ncbi.nlm.nih.gov/pubmed/24019978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0074732
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