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Cell Biol."},{"key":"10.1016\/j.bbamem.2011.09.004_bb0425","doi-asserted-by":"crossref","first-page":"10482","DOI":"10.1074\/jbc.M109902200","article-title":"Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels","volume":"277","author":"Stout","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamem.2011.09.004_bb0430","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.bbamem.2005.01.014","article-title":"Connexin-based gap junction hemichannels: gating mechanisms","volume":"1711","author":"Saez","year":"2005","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamem.2011.09.004_bb0435","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1089\/ars.2008.2130","article-title":"Modulation of brain hemichannels and gap junction channels by pro-inflammatory agents and their possible role in neurodegeneration","volume":"11","author":"Orellana","year":"2009","journal-title":"Antioxid. 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J."},{"key":"10.1016\/j.bbamem.2011.09.004_bb0650","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.0022-202X.2004.23204.x","article-title":"A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation","volume":"123","author":"van Steensel","year":"2004","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.bbamem.2011.09.004_bb0655","doi-asserted-by":"crossref","first-page":"416","DOI":"10.2353\/ajpath.2006.051242","article-title":"A novel N14Y mutation in Connexin26 in keratitis\u2013ichthyosis\u2013deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26","volume":"169","author":"Arita","year":"2006","journal-title":"Am. J. 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