| http://purl.uniprot.org/citations/29107558 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29107558 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29107558 | http://www.w3.org/2000/01/rdf-schema#comment | "Alternative splicing contributes to gene expression dynamics in many tissues, yet its role in auditory development remains unclear. We performed whole-exome sequencing in individuals with sensorineural hearing loss (SNHL) and identified pathogenic mutations in Epithelial Splicing-Regulatory Protein 1 (ESRP1). Patient-derived induced pluripotent stem cells showed alternative splicing defects that were restored upon repair of an ESRP1 mutant allele. To determine how ESRP1 mutations cause hearing loss, we evaluated Esrp1-/- mouse embryos and uncovered alterations in cochlear morphogenesis, auditory hair cell differentiation, and cell fate specification. Transcriptome analysis revealed impaired expression and splicing of genes with essential roles in cochlea development and auditory function. Aberrant splicing of Fgfr2 blocked stria vascularis formation due to erroneous ligand usage, which was corrected by reducing Fgf9 gene dosage. These findings implicate mutations in ESRP1 as a cause of SNHL and demonstrate the complex interplay between alternative splicing, inner ear development, and auditory function."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2017.09.026"xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2017.09.026"xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "McDermott-Roe C."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "McDermott-Roe C."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Kaur M."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Kaur M."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Krantz I.D."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Krantz I.D."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Musunuru K."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Musunuru K."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Barash Y."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Barash Y."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Epstein D.J."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Epstein D.J."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Carstens R.P."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Carstens R.P."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Bebee T.W."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Bebee T.W."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Cieply B."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Cieply B."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Germiller J.A."xsd:string |
| http://purl.uniprot.org/citations/29107558 | http://purl.uniprot.org/core/author | "Germiller J.A."xsd:string |