| http://purl.uniprot.org/citations/18412279 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18412279 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18412279 | http://www.w3.org/2000/01/rdf-schema#comment | "Alterations in nuclear factor kappa B (NF-kappaB) essential modulator (NEMO; HUGO-approved symbol IKBKG) underlie most cases of ectodermal dysplasia with immune deficiency (EDI), a human disorder characterized by anhidrosis with diminished immunity. EDI has also been associated with a single heterozygous mutation at position Ser32 of the NF-kappaB inhibitor IkappaBalpha, one of two phosphorylation sites that are essential for targeting IkappaBalpha for proteasomal degradation and hence for activation of NF-kappaB. We report a novel heterozygous nonsense mutation in the IKBA (HUGO-approved symbol, NFKBIA) gene of a 1-year-old male child with EDI that introduces a premature termination codon at position Glu14. An in-frame methionine downstream of the nonsense mutation allows for reinitiation of translation. The resulting N-terminally truncated protein lacks both serine phosphorylation sites and inhibits NF-kappaB signaling by functioning as a dominant negative on NF-kappaB activity in lymphocytes and monocytes. These findings support the scanning model for translation initiation in eukaryotes and confirm the critical role of the NF-kappaB in the human immune response."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20740"xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20740"xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Gelfand E.W."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Gelfand E.W."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Ma C.A."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Ma C.A."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Jain N."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Jain N."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Lopez-Granados E."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Lopez-Granados E."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Keenan J.E."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Keenan J.E."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Kinney M.C."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Kinney M.C."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Leo H."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Leo H."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Quinones R."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/author | "Quinones R."xsd:string |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18412279 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |