| http://purl.uniprot.org/citations/27383011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27383011 | http://www.w3.org/2000/01/rdf-schema#comment | "Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and exome sequencing revealed a Thr289Arg substitution in Sphingosine-1-Phosphate Receptor-2 (S1pr2). Mutants aged 2 weeks had normal hearing sensitivity, but at 4 weeks most showed variable degrees of hearing impairment, which became severe or profound in all mutants by 14 weeks. Endocochlear potential (EP) was normal at 2 weeks old but was reduced by 4 and 8 weeks old in mutants, and the stria vascularis, which generates the EP, showed degenerative changes. Three independent mouse knockout alleles of S1pr2 have been described previously, but this is the first time that a reduced EP has been reported. Genomic markers close to the human S1PR2 gene were significantly associated with auditory thresholds in the 1958 British Birth Cohort (n = 6099), suggesting involvement of S1P signalling in human hearing loss. The finding of early onset loss of EP gives new mechanistic insight into the disease process and suggests that therapies for humans with hearing loss due to S1P signalling defects need to target strial function."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.org/dc/terms/identifier | "doi:10.1038/srep28964"xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Chen J."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Buniello A."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Dawson S.J."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Ingham N.J."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Lewis M.A."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Steel K.P."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "White J.K."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Pearson S."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Pass J."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Isaacson R.L."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/author | "Carlisle F."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/name | "Sci Rep"xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/pages | "28964"xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/title | "S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse."xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://purl.uniprot.org/core/volume | "6"xsd:string |
| http://purl.uniprot.org/citations/27383011 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27383011 |
| http://purl.uniprot.org/citations/27383011 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27383011 |
| http://purl.uniprot.org/uniprot/#_A0A1L1ST05-mappedCitation-27383011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27383011 |
| http://purl.uniprot.org/uniprot/#_P52592-mappedCitation-27383011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27383011 |
| http://purl.uniprot.org/uniprot/#_Q8BPL4-mappedCitation-27383011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27383011 |
| http://purl.uniprot.org/uniprot/#_O95136-mappedCitation-27383011 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27383011 |