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- W1998372181 abstract "Conclusion: This study demonstrated that five Cx26 mutations (R32H, S199F, 572delT, 631-632delGT, and Y155X) affect gap junction (GJ) functions by causing impaired membrane targeting and aberrant cellular localization, and one mutation (R165W) leads to a constriction of the channel pore with no dye coupling. Objective: To investigate the pathogenetic roles of six recessive Cx26 mutations (p.R32H, p.R165W, p.S199F, c.572delT, c.631-632delGT, and p.Y155X), which have not been functionally analyzed in vitro. Methods: The six mutants and wild-type Cx26 (wtCx26) were cloned into the EcoRI and SalI sites of pEGFP-N1 vector. We transfected the seven constructs into HeLa cells, followed by analysis of their protein expression using the western blot method, study of the protein localizations and gap junction-plaques on the cytomembrane under confocal microscopy, and assessment of the dye coupling of the mutated GJ channels by intercellular dye transfer experiment. Results: p.R165W targeted the cytomembrane and formed GJ-like structures in adjacent HeLa cells, causing null dye coupling. The mutants (p.R32H, p.S199F, c.572delT, c.631-632delGT, and p.Y155X) failed to reach the cell surface, and perfectly co-localized with endoplasmic reticulum (ER) throughout the cells." @default.
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- W1998372181 date "2010-09-23" @default.
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- W1998372181 title "Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss" @default.
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- W1998372181 doi "https://doi.org/10.3109/00016489.2010.506885" @default.
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