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| http://purl.uniprot.org/citations/15466487 | http://www.w3.org/2000/01/rdf-schema#comment | "Netherton syndrome (NS) is a human autosomal recessive skin disease caused by mutations in the SPINK5 gene, which encodes the putative proteinase inhibitor LEKTI. We have generated a transgenic mouse line with an insertional mutation that inactivated the mouse SPINK5 ortholog. Mutant mice exhibit fragile stratum corneum and perinatal death due to dehydration. Our analysis suggests that the phenotype is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin, an extracellular desmosomal component. Our mouse mutant provides a model system for molecular studies of desmosomal stability and keratinocyte adhesion, and for designing therapeutic strategies to treat NS."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.org/dc/terms/identifier | "doi:10.1101/gad.1232104"xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Yang T."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Hohl D."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Overbeek P.A."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Liang D."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Koch P.J."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/author | "Kheradmand F."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/name | "Genes Dev"xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/pages | "2354-2358"xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/title | "Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice."xsd:string |
| http://purl.uniprot.org/citations/15466487 | http://purl.uniprot.org/core/volume | "18"xsd:string |
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