| http://purl.uniprot.org/citations/22729224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22729224 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22729224 | http://www.w3.org/2000/01/rdf-schema#comment | "Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2331"xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2331"xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Lin A.E."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Lin A.E."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Boycott K.M."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Boycott K.M."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Gripp K.W."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Gripp K.W."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Weksberg R."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Weksberg R."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Shendure J."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Albrecht B."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Albrecht B."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Zirn B."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Zirn B."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Sullivan C.T."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Sullivan C.T."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Majewski J."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Majewski J."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Graham J.M. Jr."xsd:string |
| http://purl.uniprot.org/citations/22729224 | http://purl.uniprot.org/core/author | "Graham J.M. Jr."xsd:string |