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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(More)
Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial. By combining genetic, clinical, biochemical, electrophysiological and structural modeling studies, we have re-assessed the(More)
The X-linked form of Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32), a gap junction protein expressed by Schwann cells where it forms reflexive channels that allow the passage of ions and signaling molecules across the myelin sheath. Although most mutations result in loss of function, several studies have reported that some(More)
  • Ir K C A M Luyben, Rector Magnificus, +7 authors Yenisel Plasencia Cala˜na
  • 2015
Proefschrift ter verkrijging van de graad van doctor aan de Technische Universiteit Delft; op gezag van de Rector Magnificus prof. 3 Prototype selection by genetic algorithms 27 3.1 Prototype selection for dissimilarity representation by a genetic algorithm 28 4 Prototype models creation and selection 59 4.1 Selecting feature lines in generalized(More)
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