| http://purl.uniprot.org/citations/12766770 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12766770 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12766770 | http://www.w3.org/2000/01/rdf-schema#comment | "Loss of tight association between epidermis and dermis underlies several blistering disorders and is frequently caused by impaired function of extracellular matrix (ECM) proteins. Here we describe a new protein in mouse, Fras1, that is specifically detected in a linear fashion underlying the epidermis and the basal surface of other epithelia in embryos. Loss of Fras1 function results in the formation of subepidermal hemorrhagic blisters as well as unilateral or bilateral renal agenesis during mouse embryogenesis. Postnatally, homozygous Fras1 mutants have fusion of the eyelids and digits and unilateral renal agenesis or dysplasia. The defects observed in Fras1-/-mice phenocopy those of the existing bl (blebbed) mouse mutants, which have been considered a model for the human genetic disorder Fraser syndrome. We show that bl/bl homozygous embryos are devoid of Fras1 protein, consistent with the finding that Fras1 is mutated in these mice. In sum, our data suggest that perturbations in the composition of the extracellular space underlying epithelia could account for the onset of the blebbed phenotype in mouse and Fraser syndrome manifestation in human."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1168"xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1168"xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Petrou P."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Petrou P."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Imai K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Imai K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Yanagi M."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Yanagi M."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Scambler P.J."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Scambler P.J."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Chowdhury K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Chowdhury K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Meyer B.I."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Meyer B.I."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Chalepakis G."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Chalepakis G."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Vrontou S."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Vrontou S."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Galanopoulos K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Galanopoulos K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Vassilis K."xsd:string |
| http://purl.uniprot.org/citations/12766770 | http://purl.uniprot.org/core/author | "Vassilis K."xsd:string |