| http://purl.uniprot.org/citations/27771369 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27771369 | http://www.w3.org/2000/01/rdf-schema#comment | "Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic spectrum, including Pendred Syndrome and non-syndromic hearing loss with enlarged vestibular aqueduct (ns-EVA). No experimental structure of pendrin is currently available, making phenotype-genotype correlations difficult as predictions of transmembrane (TM) segments vary in number. Here, we propose a novel three-dimensional (3D) pendrin transmembrane domain model based on the SLC26Dg transporter. The resulting 14 TM topology was found to include two non-canonical transmembrane segments crucial for pendrin activity. Mutation mapping of 147 clinically validated pathological mutations shows that most affect two previously undescribed TM regions."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.biochi.2016.10.002"xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/author | "Minervini G."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/author | "Tosatto S.C."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/author | "Leonardi E."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/author | "Bassot C."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/name | "Biochimie"xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/pages | "109-120"xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/title | "Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain."xsd:string |
| http://purl.uniprot.org/citations/27771369 | http://purl.uniprot.org/core/volume | "132"xsd:string |
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