Desmoglein 4 (DSG4) ELISA Kits

Human Desmoglein 4 (DSG4) interaction partners

1. Case Report: autosomal recessive keratosis pilaris atrophicans caused by mutation in DSG4.

2. This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair.

3. Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively.

4. Epitopes of Dsg4 may play a role in the pathogenesis of pemphigus vulgaris .

5. show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.

6. 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 and DSG3.

7. 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.

8. DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome.

9. A large, intragenic deletion in the desmoglein 4 gene (DSG4) is the underlying mutation in an autosomal recessive form of hypotrichosis.

10. The DSG4 protein is expressed in the more highly differentiated layers of the epidermis.

11. 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

Mouse (Murine) Desmoglein 4 (DSG4) interaction partners

1. show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.

2. Desmogleins 4, 5, and 6 are all expressed in the epidermis but are expressed during different times of mouse development.

3. The abnormal hair follicles in the mutant mice develop an amorphous keratinized bleb at the bulb of the hair follicle.

4. Mast cell hyperplasia is associated with Dsg4-deficient hypotrichosis mice.

5. Smad4 loss-associated Dsg4 depletion contributed, at least in part, to hair follicles degeneration in Smad4 deficient skin.