Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

@article{Bruzzone2003LossoffunctionAR,
  title={Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.},
  author={Roberto Bruzzone and Valentina Veronesi and D{\'e}bora Regina Maia Gomes and Massimiliano Bicego and Nathalie Duval and Sandrine Marlin and Christine Petit and Paola D'andrea and Thomas W. White},
  journal={FEBS letters},
  year={2003},
  volume={533 1-3},
  pages={79-88}
}
Connexins are the protein subunits of gap junction channels that allow a direct signaling pathway between networks of cells. The specific role of connexin channels in the homeostasis of different organs has been validated by the association of mutations in several human connexins with a variety of genetic diseases. Several connexins are present in the mammalian cochlea and at least four of them have been proposed as genes causing sensorineural hearing loss. We have started our functional… CONTINUE READING
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