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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 (show GJB2 Proteins), 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 (show TTN Proteins) syndrome, and emphasizes that the presence of PPK (show GJB2 Proteins) and skin fragility with or without additional symptoms should alert clinicians to consider DSG1 deficiency.
Desmoglein 1 mutation as cause of SAM (show TTN Proteins) syndrome
Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 (show DSC2 Proteins) expression in human umbilical vein endothelial cells.
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