Article
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Human mutation - 1 Jun 2005
Wattenhofer Marie, Reymond Alexandre, Falciola Véronique, Charollais Anne, Caille Dorothée, Borel Christelle, Lyle Robert, Estivill Xavier, Petersen Michael B, Meda Paolo, Antonarakis Stylianos E
Abstract excerpt
Mutations in claudin 14 (CLDN14) cause nonsyndromic DFNB29 deafness in humans. The analysis of a murine model indicated that this phenotype is associated with degeneration of hair cells, possibly due to cation overload. However, the mechanism linking these alterations to CLDN14 mutations is unknown. To investigate this mechanism, we compared the ability of wild-type and missense mutant CLDN14 to form tight...
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