| http://purl.uniprot.org/citations/12925671 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12925671 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12925671 | http://www.w3.org/2000/01/rdf-schema#comment | "We identified previously a patient with recurrent bacterial infections who failed to respond to gram-negative LPS in vivo, and whose leukocytes were profoundly hyporesponsive to LPS and IL-1 in vitro. We now demonstrate that this patient also exhibits deficient responses in a skin blister model of aseptic inflammation. A lack of IL-18 responsiveness, coupled with diminished LPS and/or IL-1-induced nuclear factor-kappaB and activator protein-1 translocation, p38 phosphorylation, gene expression, and dysregulated IL-1R-associated kinase (IRAK)-1 activity in vitro support the hypothesis that the defect lies within the signaling pathway common to toll-like receptor 4, IL-1R, and IL-18R. This patient expresses a "compound heterozygous" genotype, with a point mutation (C877T in cDNA) and a two-nucleotide, AC deletion (620-621del in cDNA) encoded by distinct alleles of the IRAK-4 gene (GenBank/EMBL/DDBJ accession nos. AF445802 and AY186092). Both mutations encode proteins with an intact death domain, but a truncated kinase domain, thereby precluding expression of full-length IRAK-4 (i.e., a recessive phenotype). When overexpressed in HEK293T cells, neither truncated form augmented endogenous IRAK-1 kinase activity, and both inhibited endogenous IRAK-1 activity modestly. Thus, IRAK-4 is pivotal in the development of a normal inflammatory response initiated by bacterial or nonbacterial insults."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20030701"xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20030701"xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Zhang S."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Zhang S."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Gallin J.I."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Gallin J.I."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Arditi M."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Arditi M."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Vogel S.N."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Vogel S.N."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Kuhns D.B."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Kuhns D.B."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Blanco J.C.G."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Blanco J.C.G."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Lentschat A."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Lentschat A."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Medvedev A.E."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Medvedev A.E."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Salkowski C."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/author | "Salkowski C."xsd:string |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12925671 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |