| http://purl.uniprot.org/citations/25668204 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25668204 | http://www.w3.org/2000/01/rdf-schema#comment | "The immunoglobulin (Ig)-like domain containing receptor 1 (ILDR1) gene encodes angulin-2/ILDR1, a recently discovered tight junction protein, which forms tricellular tight junction (tTJ) structures with tricellulin and lipolysis-stimulated lipoprotein receptor (LSR) at tricellular contacts (TCs) in the inner ear. Previously reported recessive mutations within ILDR1 have been shown to cause severe to profound nonsyndromic sensorineural hearing loss (SNHL), DFNB42. Whole-exome sequencing of a Korean multiplex family segregating partial deafness identified a novel homozygous ILDR1 variant (p.P69H) within the Ig-like domain. To address the pathogenicity of p.P69H, the angulin-2/ILDR1 p.P69H variant protein, along with the previously reported pathogenic ILDR1 mutations, was expressed in angulin-1/LSR knockdown epithelial cells. Interestingly, partial mislocalization of the p.P69H variant protein and tricellulin at TCs was observed, in contrast to a severe mislocalization and complete failure of tricellulin recruitment of the other reported ILDR1 mutations. Additionally, three-dimensional protein modeling revealed that angulin-2/ILDR1 contributed to tTJ by forming a homo-trimer structure through its Ig-like domain, and the p.P69H variant was predicted to disturb homo-trimer formation. In this study, we propose a possible role of angulin-2/ILDR1 in tTJ formation in the inner ear and a wider audiologic phenotypic spectrum of DFNB42 caused by mutations within ILDR1."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0116931"xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kim N.K."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kim D."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Chang M.Y."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Lee K.Y."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kim M.Y."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Higashi T."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Oh S.H."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Park W.Y."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Furuse M."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kim V."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Choi B.Y."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kim A.R."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/author | "Kitajiri S."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/name | "PLoS One"xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/pages | "e0116931"xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/title | "Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain."xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/25668204 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25668204 |
| http://purl.uniprot.org/citations/25668204 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25668204 |
| http://purl.uniprot.org/uniprot/#_Q86SU0-mappedCitation-25668204 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25668204 |
| http://purl.uniprot.org/uniprot/Q86SU0 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25668204 |