Genes > DSG4 >

References

These sources were used to develop the Genetics Home Reference gene summary on the DSG4 gene.

Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation. 2006 Mar;74(2-3):129-40. PubMed citation
Entrez Gene
Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound 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. Epub 2011 Jul 19. PubMed citation
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 underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res. 2006 Aug;298(3):135-7. Epub 2006 Jun 13. PubMed citation
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. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. PubMed citation
Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol. 2005 Nov;125(5):1077-9. PubMed citation
OMIM: DESMOGLEIN 4
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 families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul;123(1):247-8. PubMed citation
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1281-5. PubMed citation
Wajid M, Bazzi H, Rockey J, Lubetkin J, Zlotogorski A, Christiano AM. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. J Invest Dermatol. 2007 Jul;127(7):1779-82. Epub 2007 Mar 29. PubMed citation
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 of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources