Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4).
genes
References
Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd,Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytesand trichocytes in human epidermis and hair follicle. Differentiation. 2006Mar;74(2-3):129-40.
Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novelcompound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol.2011 Aug;165(2):425-31. doi: 10.1111/j.1365-2133.2011.10373.x.
John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I, Ansar M,Ahmad W. Recurrent intragenic deletion mutation in desmoglein 4 gene underliesautosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhiorigins. Arch Dermatol Res. 2006 Aug;298(3):135-7.
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, ChristianoAM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion:evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003Apr 18;113(2):249-60.
Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. A missensemutation in the cadherin interaction site of the desmoglein 4 gene underlieslocalized autosomal recessive hypotrichosis. J Invest Dermatol. 2005Nov;125(5):1077-9.
Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani familieswith autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247-8.
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M. Mutations in thedesmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1281-5.
Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM.Localized autosomal recessive hypotrichosis due to a frameshift mutation in thedesmoglein 4 gene exhibits extensive phenotypic variability within a Pakistanifamily. J Invest Dermatol. 2007 Jul;127(7):1779-82.
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A,Frydman M, Reznik-Wolf H, Vardy DA, Pras E. An autosomal recessive form ofmonilethrix is caused by mutations in DSG4: clinical overlap with localizedautosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6.
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