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Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2
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Meigh, Louise, Hussain, Naveed, Mulkey, Daniel K. and Dale, Nicholas (2014) Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. eLife, Volume 3 . Article number e04249. doi:10.7554/eLife.04249
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Official URL: http://dx.doi.org/10.7554/eLife.04249
Abstract
Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO2 (Meigh et al., 2013). However the effects of human disease-causing mutations on the CO2 sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO2 sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO2 insensitive and associated with disordered breathing in humans.
| Item Type: | Journal Article | ||||
|---|---|---|---|---|---|
| Subjects: | R Medicine > RC Internal medicine | ||||
| Divisions: | Faculty of Science > Life Sciences (2010- ) | ||||
| Library of Congress Subject Headings (LCSH): | Cornea -- Diseases, Deafness -- Genetic aspects, Carbon dioxide -- Physiological effect | ||||
| Journal or Publication Title: | eLife | ||||
| Publisher: | eLife sciences publications ltd. | ||||
| ISSN: | 2050-084X | ||||
| Official Date: | 24 November 2014 | ||||
| Dates: |
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| Volume: | Volume 3 | ||||
| Number of Pages: | 7 | ||||
| Article Number: | Article number e04249 | ||||
| DOI: | 10.7554/eLife.04249 | ||||
| Status: | Peer Reviewed | ||||
| Publication Status: | Published | ||||
| Access rights to Published version: | Open Access | ||||
| Funder: | Medical Research Council (Great Britain) (MRC) | ||||
| Grant number: | G1001259 (MRC) |
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