| Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families. | Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
Zhou C, Wang P, Yang D, Liao W, Guo Q, Li J, Wen G, Zheng S, Zhang X, Wang R, Zhang J., Free PMC Article | 04/23/2022 |
| Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4. | Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.
Moreno-Sosa T, Sánchez MB, Pietrobon EO, Fernandez-Muñoz JM, Zoppino FCM, Neira FJ, Germanó MJ, Cargnelutti DE, Innocenti AC, Jahn GA, Valdez SR, Mackern-Oberti JP., Free PMC Article | 09/18/2021 |
| Case Report: autosomal recessive keratosis pilaris atrophicans caused by mutation in DSG4. | Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.
Cohen-Barak E, Danial-Farran N, Hammad H, Aleme O, Krauz J, Gavish E, Khayat M, Ziv M, Shalev S. | 01/19/2019 |
| This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair. | A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
Ullah A, Raza SI, Ali RH, Naveed AK, Jan A, Rizvi SD, Satti R, Ahmad W. | 09/26/2015 |
| Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively. | Desmoglein as a target in skin disease and beyond.
Amagai M, Stanley JR., Free PMC Article | 04/14/2012 |
| Epitopes of Dsg4 may play a role in the pathogenesis of pemphigus vulgaris . | [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris].
Li W, Feng Y, Lu XY, Li JY, Ran YP. | 06/14/2010 |
| 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. | Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
Bazzi H, Demehri S, Potter CS, Barber AG, Awgulewitsch A, Kopan R, Christiano AM., Free PMC Article | 02/22/2010 |
| The DSG4 protein is expressed in the more highly differentiated layers of the epidermis. | Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle.
Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM. | 01/21/2010 |
| 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. | Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM. | 01/21/2010 |
| 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. | Genetic evidence for a novel human desmosomal cadherin, desmoglein 4.
Whittock NV, Bower C. | 01/21/2010 |
| DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome. | Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome.
Nagasaka T, Nishifuji K, Ota T, Whittock NV, Amagai M., Free PMC Article | 01/21/2010 |
| 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 | Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM. | 01/21/2010 |
| A large, intragenic deletion in the desmoglein 4 gene (DSG4) is the underlying mutation in an autosomal recessive form of hypotrichosis. | Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.
Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM. | 01/21/2010 |