{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T16:40:13Z","timestamp":1792255213866,"version":"4.4.0"},"reference-count":22,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G1001259"],"award-info":[{"award-number":["G1001259"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in connexin26 (Cx26) underlie a range of serious human pathologies. Previously we have shown that Cx26 hemichannels are directly opened by CO\n                    <jats:sub>2<\/jats:sub>\n                    (\n                    <jats:xref ref-type=\"bibr\">Meigh et al., 2013<\/jats:xref>\n                    ). However the effects of human disease-causing mutations on the CO\n                    <jats:sub>2<\/jats:sub>\n                    sensitivity of Cx26 are entirely unknown. Here, we report the first connection between the CO\n                    <jats:sub>2<\/jats:sub>\n                    sensitivity of Cx26 and human pathology, by demonstrating that Cx26 hemichannels with the mutation A88V, linked to Keratitis-Ichthyosis-Deafness syndrome, are both CO\n                    <jats:sub>2<\/jats:sub>\n                    insensitive and associated with disordered breathing in humans.\n                  <\/jats:p>","DOI":"10.7554\/elife.04249","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T07:32:53Z","timestamp":1416900773000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.04249","source":"Crossref","is-referenced-by-count":50,"title":["Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2"],"prefix":"10.7554","volume":"3","author":[{"given":"Louise","family":"Meigh","sequence":"first","affiliation":[{"name":"School of Life Sciences, University of Warwick, Coventry, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveed","family":"Hussain","sequence":"additional","affiliation":[{"name":"Division of Neonatal Pediatrics, Connecticut Children's Medical Center NICU, University of Connecticut Health Center, Farmington, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel K","family":"Mulkey","sequence":"additional","affiliation":[{"name":"Department of Physiology and Neurobiology, University of Connecticut, Storrs, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Dale","sequence":"additional","affiliation":[{"name":"School of Life Sciences, University of Warwick, Coventry, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4374","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/j.febslet.2014.03.040","article-title":"The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice","volume":"588","author":"Bosen","year":"2014","journal-title":"FEBS Letters"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.1525-1470.1996.tb01414.x","article-title":"Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology","volume":"13","author":"Caceres-Rios","year":"1996","journal-title":"Pediatric Dermatology"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1002\/(SICI)1096-8628(19990924)89:3<130::AID-AJMG3>3.0.CO;2-M","article-title":"Clinical phenotype and mutations in connexin 26 (DFNB1\/GJB2), the most common cause of childhood hearing loss","volume":"89","author":"Cohn","year":"1999","journal-title":"American Journal of Medical Genetics"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1007\/s00018-005-5571-8","article-title":"The vertebrate connexin family","volume":"63","author":"Cruciani","year":"2006","journal-title":"Cellular and Molecular Life Sciences"},{"key":"bib5","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1152\/ajpregu.2000.279.1.R1","article-title":"Multiple comparisons: philosophies and illustrations","volume":"279","author":"Curran-Everett","year":"2000","journal-title":"American Journal of Physiology. 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