| http://purl.uniprot.org/citations/15345741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15345741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15345741 | http://www.w3.org/2000/01/rdf-schema#comment | "Fraser syndrome is a rare recessive disorder characterized by cryptophthalmos, syndactyly, renal defects, and a range of other developmental abnormalities. Because of their extensive phenotypic overlap, the mouse blebbing mutants have been considered models of this disorder, and the recent isolation of mutations in Fras1 in both the blebbed mouse and human Fraser patients confirms this hypothesis. Here we report the identification of mutations in an extracellular matrix gene Fras1-related extracellular matrix gene 1 (Frem1) in both the classic head blebs mutant and in an N-ethyl-N-nitrosourea-induced allele. We show that inactivation of the gene results in the formation of in utero epidermal blisters beneath the lamina densa of the basement membrane and also in renal agenesis. Frem1 is expressed widely in the developing embryo in regions of epithelial/mesenchymal interaction and epidermal remodeling. Furthermore, Frem1 appears to act as a dermal mediator of basement membrane adhesion, apparently independently of the other known "blebs" proteins Fras1 and Grip1. Unlike both Fras1 and Grip1 mutants, collagen VI and Fras1 deposition in the basement membrane is normal, indicating that the protein plays an independent role in epidermal differentiation and is required for epidermal adhesion during embryonic development."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0402760101"xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0402760101"xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Taylor M.S."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Taylor M.S."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Du X."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Du X."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Smyth I."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Smyth I."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Justice M.J."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Justice M.J."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Jackson I.J."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Jackson I.J."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Beutler B."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/author | "Beutler B."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/pages | "13560-13565"xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/pages | "13560-13565"xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/title | "The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis."xsd:string |
| http://purl.uniprot.org/citations/15345741 | http://purl.uniprot.org/core/title | "The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis."xsd:string |