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DSG4 encodes a member of the desmoglein subgroup of desmosomal cadherins. Additionally we are shipping Desmoglein 4 Antibodies (24) and Desmoglein 4 Kits (3) and many more products for this protein.
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This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair.
Epitopes of Dsg4 may play a role in the pathogenesis of pemphigus vulgaris (show DSG3 Proteins) .
show that HOXC13, LEF1 (show LEF1 Proteins) and FOXN1 (show FOXN1 Proteins) repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch (show NOTCH1 Proteins) pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.
the human desmoglein 4 gene (DSG4) demonstrates that it is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 (show DSG1 Proteins) and DSG3 (show DSG3 Proteins).
The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. We also show that DSG4 is an autoantigen in pemphigus vulgaris (show DSG3 Proteins).
DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome.
The DSG4 protein is expressed in the more highly differentiated layers of the epidermis.
identification of a single nucleotide deletion within exon 3 of DSG4, designated 87delG in a Pakistani family with localized autosomal recessive hypotrichosis; this results in a frameshift and premature termination codon 162 bp downstream of the deletion
show that HOXC13, LEF1 (show LEF1 Proteins) and FOXN1 (show FOXN2 Proteins) repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch (show NOTCH1 Proteins) pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.
Mast cell hyperplasia is associated with Dsg4-deficient hypotrichosis mice.
Smad4 (show SMAD4 Proteins) loss-associated Dsg4 depletion contributed, at least in part, to hair follicles degeneration in Smad4 (show SMAD4 Proteins) deficient skin.
This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants.
, CDH family member 13
, cadherin family member 13
, lanceolate hair