| http://purl.uniprot.org/citations/16242304 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16242304 | http://www.w3.org/2000/01/rdf-schema#comment | "Transmembrane proteins of the cadherin superfamily, the desmogleins and desmocollins, mediate intercellular adhesion in desmosomes. Autoantibodies to desmoglein 1 (dsg1) are a hallmark of pemphigus foliaceus (PF), a disease characterized by skin blistering resulting from keratinocyte cell detachment. The etiology and pathogenesis of this disease remain poorly understood; however, genetic susceptibility is clearly involved. The aim of this study was to verify if genetic variants of dsg1 influence susceptibility/resistance to endemic PF (fogo selvagem). Two single nucleotide polymorphisms (SNPs) were analyzed: 809 (C,T), a synonymous variation, and 1660 (A,C), a tyrosine<-->serine variation in the fifth extracellular domain. Allelic, haplotypic and genotypic frequencies did not differ significantly between the patient (n=134) and the control (n=227) population samples. Moreover, there is no evidence of interaction between the DSG1 and the HLA-DRB1 and IL6 genes, whose alleles had been found associated with differential susceptibility to PF. The results of this study agree with the described and predicted B- and T-cell epitopes of the dsg1 molecule, which seemingly are not affected by the allelic variation. We conclude that genetic diversity of the autoantigen dsg1 is not a major factor for PF pathogenesis in the Brazilian population."xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jaut.2005.08.001"xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/author | "Petzl-Erler M.L."xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/author | "Malheiros D."xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/name | "J Autoimmun"xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/pages | "121-125"xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/title | "Pemphigus foliaceus and desmoglein 1 gene polymorphism: is there any relationship?"xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://purl.uniprot.org/core/volume | "25"xsd:string |
| http://purl.uniprot.org/citations/16242304 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16242304 |
| http://purl.uniprot.org/citations/16242304 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16242304 |
| http://purl.uniprot.org/uniprot/#_Q02413-mappedCitation-16242304 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16242304 |
| http://purl.uniprot.org/uniprot/#_Q712V6-mappedCitation-16242304 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16242304 |
| http://purl.uniprot.org/uniprot/Q02413 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/16242304 |
| http://purl.uniprot.org/uniprot/Q712V6 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/16242304 |