| http://purl.uniprot.org/citations/31448880 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31448880 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31448880 | http://www.w3.org/2000/01/rdf-schema#comment | "Hearing relies on mechanically gated ion channels present in the actin-rich stereocilia bundles at the apical surface of cochlear hair cells. Our knowledge of the mechanisms underlying the formation and maintenance of the sound-receptive structure is limited. Utilizing a large-scale forward genetic screen in mice, genome mapping and gene complementation tests, we identified Clrn2 as a new deafness gene. The Clrn2clarinet/clarinet mice (p.Trp4* mutation) exhibit a progressive, early-onset hearing loss, with no overt retinal deficits. Utilizing data from the UK Biobank study, we could show that CLRN2 is involved in human non-syndromic progressive hearing loss. Our in-depth morphological, molecular and functional investigations establish that while it is not required for initial formation of cochlear sensory hair cell stereocilia bundles, clarin-2 is critical for maintaining normal bundle integrity and functioning. In the differentiating hair bundles, lack of clarin-2 leads to loss of mechano-electrical transduction, followed by selective progressive loss of the transducing stereocilia. Together, our findings demonstrate a key role for clarin-2 in mammalian hearing, providing insights into the interplay between mechano-electrical transduction and stereocilia maintenance."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.org/dc/terms/identifier | "doi:10.15252/emmm.201910288"xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.org/dc/terms/identifier | "doi:10.15252/emmm.201910288"xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Brown S.D."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Brown S.D."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Dawson S.J."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Dawson S.J."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Johnson S."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Johnson S."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Petit C."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Petit C."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Simon M.M."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Simon M.M."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Parker A."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Parker A."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Williams D."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Williams D."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Aguilar C."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Aguilar C."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Wells S."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Wells S."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Delmaghani S."xsd:string |
| http://purl.uniprot.org/citations/31448880 | http://purl.uniprot.org/core/author | "Delmaghani S."xsd:string |