| http://purl.uniprot.org/citations/26593112 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26593112 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26593112 | http://www.w3.org/2000/01/rdf-schema#comment | "Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. Functional characterization of patient cells using a variety of endpoints demonstrates increased phosphatidylinositol-3-kinase (PI3K) activity. The mutation lies in a linker region adjacent to the p85 (PIK3R2) binding domain of the p110α (PIK3CA) catalytic subunit of PI3K. We show that altered stoichiometry within the p85-p110 complex likely underlies the hyperactive PI3K-AKT-mTOR signaling in this instance. Our findings expand upon the recently proposed "PIK3CA-related overgrowth spectrum" associated with PIKC3A mutations and PI3K hyperactivation, adding constitutional PIK3CA mutations as an underlying cause of megalencephaly and macrosomia in newborns."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22933"xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22933"xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Rump A."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Rump A."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Mirzaa G.M."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Mirzaa G.M."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Alcantara D."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Alcantara D."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "O'Driscoll M."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "O'Driscoll M."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Schrock E."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Schrock E."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Oliver A."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Oliver A."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Donato N.D."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/author | "Donato N.D."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/26593112 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |