| http://purl.uniprot.org/citations/22010916 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22010916 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22010916 | http://www.w3.org/2000/01/rdf-schema#comment | "We performed genetic and immunohistochemical studies in a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis; her brother had mild cardiomyopathy. We identified a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), as the probable cause of this syndrome. Peripheral-blood mononuclear cells (PBMCs) obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1β and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.)."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1100721"xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1100721"xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Blaydon D.C."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Blaydon D.C."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Harper J.I."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Harper J.I."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Kelsell D.P."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Kelsell D.P."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Lindley K."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Lindley K."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "O'Toole E.A."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "O'Toole E.A."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Abrams D.J."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Abrams D.J."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Biancheri P."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Biancheri P."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Brooke M.A."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Brooke M.A."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Cabral R.M."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Cabral R.M."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Di W.L."xsd:string |
| http://purl.uniprot.org/citations/22010916 | http://purl.uniprot.org/core/author | "Di W.L."xsd:string |