| http://purl.uniprot.org/citations/28663585 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28663585 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28663585 | http://www.w3.org/2000/01/rdf-schema#comment | "Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows of graded heights. Calcium and integrin-binding protein 2 is essential for hearing and localizes to stereocilia, but its exact function is unknown. Here, we have characterized two mutant mouse lines, one lacking calcium and integrin-binding protein 2 and one carrying a human deafness-related Cib2 mutation, and show that both are deaf and exhibit no mechanotransduction in auditory hair cells, despite the presence of tip links that gate the mechanotransducer channels. In addition, mechanotransducing shorter row stereocilia overgrow in hair cell bundles of both Cib2 mutants. Furthermore, we report that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations. We conclude that calcium and integrin-binding protein 2 is required for normal operation of the mechanotransducer channels and is involved in limiting the growth of transducing stereocilia.Inner ear hair cells detect sound through deflection of stereocilia that harbor mechanically-gated channels. Here the authors show that protein responsible for Usher syndrome, CIB2, interacts with these channels and is essential for their function and hearing in mice."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-017-00061-1"xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-017-00061-1"xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Parker A."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Parker A."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Ahmed Z.M."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Ahmed Z.M."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Riazuddin S."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Riazuddin S."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Schafer W.R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Schafer W.R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Bowl M.R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Bowl M.R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Brown S.D.M."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Brown S.D.M."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Fettiplace R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Fettiplace R."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Freeman M.J."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Freeman M.J."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Frolenkov G.I."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Frolenkov G.I."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Giese A.P.J."xsd:string |
| http://purl.uniprot.org/citations/28663585 | http://purl.uniprot.org/core/author | "Giese A.P.J."xsd:string |