| http://purl.uniprot.org/citations/16550169 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16550169 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16550169 | http://www.w3.org/2000/01/rdf-schema#comment | "Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1767"xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1767"xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Sergeant A."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Sergeant A."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Zhao Y."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Zhao Y."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Mukhopadhyay S."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Mukhopadhyay S."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Lee S.P."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Lee S.P."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Goudie D.R."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Goudie D.R."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Irvine A.D."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Irvine A.D."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Munro C.S."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Munro C.S."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Sandilands A."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Sandilands A."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Fleckman P."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Fleckman P."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Watson R.M."xsd:string |
| http://purl.uniprot.org/citations/16550169 | http://purl.uniprot.org/core/author | "Watson R.M."xsd:string |