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XB--955797
Papers associated with gjb2 (and OMIM)
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The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening., Valdez Capuccino JM, Chatterjee P, García IE, Botello-Smith WM, Zhang H, Harris AL, Luo Y, Contreras JE., J Gen Physiol. March 4, 2019; 151 (3): 328-341.  |
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Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine., Levit NA, Sellitto C, Wang HZ, Li L, Srinivas M, Brink PR, White TW., J Invest Dermatol. April 1, 2015; 135 (4): 1033-1042.  |
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Connexins in epidermal homeostasis and skin disease., Scott CA, Tattersall D, O'Toole EA, Kelsell DP., Biochim Biophys Acta. August 1, 2012; 1818 (8): 1952-61.  |
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GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M, Xia XJ, Erdenetungalag R, Cengiz FB, White TW, Radnaabazar J, Dangaasuren B, Tastan H, Nance WE, Pandya A., Ann Hum Genet. March 1, 2010; 74 (2): 155-64. |
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Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss., Meşe G, Londin E, Mui R, Brink PR, White TW., Hum Genet. August 1, 2004; 115 (3): 191-9. |
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Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ., FASEB J. May 1, 2004; 18 (7): 860-2. |
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