DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE In this study, the genes for two autoantigens (DSG1 for pemphigus foliaceus and DSG3 for pemphigus vulgaris) were mapped on band q12 of human chromosome 18 by fluorescence in situ hybridization. 8034325 1994
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Epidermal desmogleins with molecular weights of 130/140 kDa (Dsg3 or PVA) and 150/160 kDa (Dsg1 or DGI) are recognized by autoantibodies from patients with pemphigus vulgaris (PV) and pemphigus foliaceus (PF), respectively. 7547386 1995
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 GeneticVariation disease BEFREE These data indicate that both pemphigus foliaceus and pemphigus vulgaris sera react with conformationally sensitive epitopes in the amino-terminal region of Dsg1. 7543545 1995
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are autoimmune skin diseases caused by autoantibodies against desmoglein (Dsg) 3 and Dsg1, respectively. 9257868 1997
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Pemphigus foliaceus (PF) is a dermatosis characterized by subcorneal vesicles and pathogenic IgG autoantibodies against desmoglein 1. 9325073 1997
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Pemphigus vulgaris (PV) and pemphigus foliaceus (PF) are caused by autoantibodies against keratinocyte adhesion molecules desmoglein 3 (Dsg3) and desmoglein 1 (Dsg1), respectively. 10551416 1999
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE The anti-Dsg 1 antibody also was not required, as its presence in PV IgG does not alter the PV-like phenotype in skin organ cultures and because pemphigus foliaceus IgGs produce a distinct phenotype in Dsg3(null) mice. 11120754 2000
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE We have analysed the characteristics of the 'pockets' of the susceptibility-associated molecules to PV and PF and we showed that (i) in PV, two kinds of Dsg3 derived peptides may be presented by HLA-DR according to HLA polymorphism (DRB1*0402 or DRB1*14/0406), (ii) the same Dsg1 peptides may be presented by DRB1*0102, DQB1*0404 or DRB1*14 in PF, (iii) the DRB1*14/0406 PV-related molecules may be able to present Dsg1 and Dsg3 peptides thereby providing an explanation for the cases of PV with combined responses to Dsg1 and to Dsg3 which are typified by a muco-cutaneous clinical phenotype. 10936030 2000
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 GeneticVariation disease BEFREE A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease. 11294567 2001
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 GeneticVariation disease BEFREE In addition, some sera of Brazilian PF patients or cases with mixed features of PV and PF also reacted with the intracellular domains of Dsg1 or Dsg3. 11154866 2001
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations. 12209366 2002
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 GeneticVariation disease BEFREE Combined analysis of HLA class II and DSG1 polymorphisms with several distinct statistical methods including logistic regression, showed that the DRB1*04 allele and the C/C(809) genotype interact to confer a higher susceptibility to PF. 12058255 2002
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Pemphigus foliaceus is an autoimmune blistering skin disease characterized by intraepidermal blisters and circulating autoantibodies directed against desmoglein 1, a 160 kDa transmembrane desmosomal molecule expressed in keratinocytes. 12190860 2002
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 AlteredExpression disease BEFREE Pemphigus vulgaris (PV) and pemphigus foliaceus (PF), in which autoantibodies bind, respectively, to desmoglein 3 and desmoglein 1, are strongly associated with HLA-class II DR4 and DR14 alleles. 12604316 2003
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE This recombinant canine Dsg1 produced by baculovirus shares the major epitopes of the authentic canine Dsg1 recognized by human PF sera, and will be useful in studying the molecular pathophysiological mechanisms in PF and impetigo in canine patients. 12963278 2003
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE We conclude that genetic diversity of the autoantigen dsg1 is not a major factor for PF pathogenesis in the Brazilian population. 16242304 2005
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 GeneticVariation disease BEFREE In particular, involvement of a polymorphic variant of desmoglein 1 gene was shown to be associated with pemphigus foliaceus and to interact in an epistatic manner with MHC class II genes to contribute to the autoimmune process. 15869862 2005
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Two Dsg are targeted by pathogenic autoantibodies produced in the course of autoimmune bullous skin diseases, Dsg1 in pemphigus foliaceus (PF), and Dsg3 and Dsg1 in pemphigus vulgaris. 17056584 2006
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Pemphigus foliaceus (PF) is an autoimmune bullous epidermal disease, characterized by autoantibodies specific to the desmosomal protein desmoglein 1 (dsg1) and by acantholysis, the rupture of the cellular junctions among keratinocytes. 16611260 2006
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE We provide evidence that both pemphigus foliaceus-IgG containing Dsg 1- but not Dsg 3-specific antibodies and pemphigus vulgaris-IgG with antibodies to Dsg 1 and Dsg 3 were equally effective in causing epidermal splitting in human skin and keratinocyte dissociation in vitro. 17640963 2007
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Dsg1 is the target autoantigen of pathogenic autoantibodies produced by pemphigus foliaceus and 50% of pemphigus vulgaris patients in a Dsg1-specific T-cell-dependent pathway. 18331528 2008
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Desmoglein 3 is targeted in pemphigus vulgaris while desmoglein 1 is targeted in pemphigus foliaceus and its endemic form, Fogo Selvagem. 18838249 2008
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE These mAbs will be useful for studying Dsg1 function and mechanisms of blister formation in PF and for developing targeted therapies and tools to monitor disease activity. 18007588 2008
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Following the candidate gene approach we analyzed the CD40L, CD40, BLYS and CD19 genes that participate of B-cell co-stimulation, for association with pemphigus foliaceus (PF), an organ-specific autoimmune disease, characterized by the detachment of epidermal cells from each other (acantholysis) and presence of autoantibodies specific for desmoglein 1 (dsg1), an epidermal cell-adhesion molecule. 19421221 2009
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus
0.100 Biomarker disease BEFREE Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. 19453789 2009