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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 ELISA Kits) syndrome, and emphasizes that the presence of PPK (show GJB2 ELISA Kits) and skin fragility with or without additional symptoms should alert clinicians to consider DSG1 deficiency.
Desmoglein 1 mutation as cause of SAM (show TTN ELISA Kits) syndrome
Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 (show DSC2 ELISA Kits) 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 (show DSG3 ELISA Kits) positive, are able to recognize continuous linear epitope regions of both Dsg1 and Dsg3 (show DSG3 ELISA Kits) proteins using pin (show DYNLL1 ELISA Kits)-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.
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.
Transgenic expression of Dsg1 rescued the severe B6-Dsg3 (show DSG3 ELISA Kits)(-/-) phenotype and provided a syngeneic mouse model of pemphigus vulgaris (show DSG3 ELISA Kits).
Staphylococcal exfoliative toxins act as serine proteases with extremely focused molecular specificity to cleave mouse and human desmoglein 1 (Dsg1) once after glutamic acid residue 381 between extracellular domains 3 and 4.
Expression of desmoglein 1 compensates for genetic loss of desmoglein 3 (show DSG3 ELISA Kits) in keratinocyte adhesion.
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 beta
, desmoglein 1 gamma
, desmosomal glycoprotein I