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http://purl.uniprot.org/citations/18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18591382http://www.w3.org/2000/01/rdf-schema#comment"CD40 signaling is critical for innate and adaptive immunity against pathogens, and the cytoplasmic domain of CD40 is highly conserved both within and between species. A novel missense single nucleotide polymorphism (SNP) in the cytoplasmic domain of CD40 at position 227 (P227A) was identified, which resides on a conserved ancestral haplotype highly enriched in persons of Mexican and South American descent. Functional studies indicated that signaling via human (h) CD40-P227A stably expressed in several B-cell lines led to increased phosphorylation of c-Jun, increased secretion of the pro-inflammatory cytokines interleukin (IL)-6 and TNF-alpha, and increased Ig production, compared with wild-type hCD40. Cooperation between hCD40-P227A signaling and B-cell receptor (BCR)- or Toll-like receptor 9 (TLR9)-mediated signaling was also enhanced, resulting in elevated and synergistic production of IL-6 and Ig. We have thus identified a novel genetic variant of hCD40 with a gain-of-function immune phenotype."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.org/dc/terms/identifier"doi:10.1182/blood-2008-02-138925"xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Graham R.R."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Altshuler D.M."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Bishop G.A."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Gaffney P.M."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Plenge R.M."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Moser K.L."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/author"Peters A.L."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/name"Blood"xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/pages"1863-1871"xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/title"A novel polymorphism of the human CD40 receptor with enhanced function."xsd:string
http://purl.uniprot.org/citations/18591382http://purl.uniprot.org/core/volume"112"xsd:string
http://purl.uniprot.org/citations/18591382http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18591382
http://purl.uniprot.org/citations/18591382http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/18591382
http://purl.uniprot.org/uniprot/#_A0A087X1D0-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_A0A0S2Z349-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_A0A0S2Z3C7-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_A0A8Q3SI60-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_A0A8Q3WKP3-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_P25942-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_Q59F01-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382
http://purl.uniprot.org/uniprot/#_Q09LL4-mappedCitation-18591382http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18591382