| http://purl.uniprot.org/citations/23810379 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23810379 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23810379 | http://www.w3.org/2000/01/rdf-schema#comment | "The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). This mutation led to impaired interaction between p85α and IRS-1 and reduced AKT-mediated insulin signaling in fibroblasts from affected subjects and in reconstituted Pik3r1-knockout preadipocytes. Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.05.023"xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.05.023"xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Kahn C.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Kahn C.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Johansson S."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Johansson S."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Johansson B."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Johansson B."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Konig R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Konig R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Molven A."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Molven A."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Sagen J.V."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Sagen J.V."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Woo J.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Woo J.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Njolstad P.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Njolstad P.R."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Aarskog D."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Aarskog D."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Chudasama K.K."xsd:string |
| http://purl.uniprot.org/citations/23810379 | http://purl.uniprot.org/core/author | "Chudasama K.K."xsd:string |