| http://purl.uniprot.org/citations/21768372 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21768372 | http://www.w3.org/2000/01/rdf-schema#comment | "The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins, and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome). We generated a conditional allele of the X-linked mouse Porcn gene and analyzed its requirement in Wnt signaling and embryonic development. We find that Porcn-deficient cells exhibit a cell-autonomous defect in Wnt ligand secretion but remain responsive to exogenous Wnts. Consistent with the female-specific inheritance pattern of FDH, Porcn hemizygous male embryos arrest during early embryogenesis and fail to generate mesoderm, a phenotype previously associated with loss of Wnt activity. Heterozygous Porcn mutant females exhibit a spectrum of limb, skin, and body patterning abnormalities resembling those observed in human patients with FDH. Many of these defects are recapitulated by ectoderm-specific deletion of Porcn, substantiating a long-standing hypothesis regarding the etiology of human FDH and extending previous studies that have focused on downstream elements of Wnt signaling, such as β-catenin. Conditional deletion of Porcn thus provides an experimental model of FDH, as well as a valuable tool to probe Wnt ligand function in vivo."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1006437108"xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/author | "Smith A.P."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/author | "Murtaugh L.C."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/author | "Barrow J.R."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/author | "Barrott J.J."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/author | "Cash G.M."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/pages | "12752-12757"xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/title | "Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome."xsd:string |
| http://purl.uniprot.org/citations/21768372 | http://purl.uniprot.org/core/volume | "108"xsd:string |
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