Article
Assembly of the cochlear gap junction macromolecular complex requires connexin 26.
The Journal of clinical investigation - 1 Apr 2014
Kamiya Kazusaku, Yum Sabrina W, Kurebayashi Nagomi, Muraki Miho, Ogawa Kana, Karasawa Keiko, Miwa Asuka, Guo Xueshui, Gotoh Satoru, Sugitani Yoshinobu, Yamanaka Hitomi, Ito-Kawashima Shioko, Iizuka Takashi, Sakurai Takashi, Noda Tetsuo, Minowa Osamu, Ikeda Katsuhisa
Abstract excerpt
Hereditary deafness affects approximately 1 in 2,000 children. Mutations in the gene encoding the cochlear gap junction protein connexin 26 (CX26) cause prelingual, nonsyndromic deafness and are responsible for as many as 50% of hereditary deafness cases in certain populations. Connexin-associated deafness is thought to be the result of defective development of auditory sensory epithelium due to connexion...
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