| http://purl.uniprot.org/citations/23541344 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23541344 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23541344 | http://www.w3.org/2000/01/rdf-schema#comment | "Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.03.002"xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.03.002"xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Reichenberger E."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Reichenberger E."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Bamshad M.J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Bamshad M.J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Smith J.D."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Smith J.D."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Le Merrer M."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Le Merrer M."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Amiel J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Amiel J."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Field M."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Field M."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Plessis G."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Plessis G."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Gordon C.T."xsd:string |
| http://purl.uniprot.org/citations/23541344 | http://purl.uniprot.org/core/author | "Gordon C.T."xsd:string |