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Here the authors identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.
Compared with immunocompetent patients, kidney transplant recipients systemically treated with calcineurin inhibitors and mycophenolate mofetil exhibited significantly reduced epidermal expression of Dsg1, a regulator of keratinocyte differentiation and barrier function.
Study identified DSG1 to be involved in the progressive intestinal injury associated with the development of Crohn's Disease complications via its effect on intestinal cell adhesion.
The authors report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.
Authors report a new family of severe dermatitis, multiple allergies and metabolic wasting syndrome of Asian decent and expand the spectrum of mutations in the DSG1 gene.
Case Report: striate palmoplantar keratoderma showing transgrediens in a patient with heterozygote nonsense mutations in DSG1 and SERPINB7.
Genetic deletion of sdrD in S. aureus NCTC8325-4 through allelic replacement resulted in decreased bacterial adherence to Dsg1- expressing HaCaT cells in vitro.
The results of this study describes the fourth family with a biallelic mutation in the DSG1 gene associated with SAM syndrome, and emphasizes that the presence of PPK and skin fragility with or without additional symptoms should alert clinicians to consider DSG1 deficiency.
Desmoglein 1 mutation as cause of SAM syndrome
Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells.
Desmoglein-1 regulates esophageal epithelial barrier function and immune responses in eosinophilic esophagitis.
Ectopic expression of Dsg1 in keratinocyte monolayers rescued the UVB-induced differentiation defect
The data showed that serum autoantibodies of patients, previously identified as Dsg1 and Dsg3 positive, are able to recognize continuous linear epitope regions of both Dsg1 and Dsg3 proteins using pin-bound overlapping peptides in modified ELISAs.
The loss of Bcr or MAL reduced levels of Dsg1 mRNA in keratinocytes, and ectopic expression of Dsg1 rescued defects in differentiation seen upon loss of Bcr or MAL signaling.
DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines
IgG autoantibodies against Dsg1 are mostly raised against preDsg1 and/or C-terminal domains of Dsg1 in healthy Tunisians in the endemic area of pemphigus foliaceus.
DSG1 and Erbin cooperate to repress MAPK signaling and promote keratinocyte differentiation.
we show that the LJM11 salivary protein from the sand fly are recognized by pemphigus foliaceus autoantibodies against desmoglein 1
Induced gene expression levels of plakoglobin, desmoglein-1 and desmoglein-2 correlated significantly with dilatation of intercellular spaces and basal cell hyperplasia in esophageal mucosa of patients with gastro-oesophageal reflux disease.
The identification of desmogleins 1 and 3, desmosomal adhesion glycoproteins, as targets in pemphigus, a fatal autoimmune blistering disease of the skin and mucous membranes, provided the first link between desmosomes, desmogleins, and human diseases.
The study indicated a possible correlation between the genotypes of two out of seven SNPs found in the porcine desmoglein 1 gene and the susceptibility to exudative epidermitis.
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
, cadherin family member 4
, desmosomal glycoprotein 1
, pemphigus foliaceus antigen
, desmoglein 1
, desmoglein 1 beta
, desmoglein 1 gamma