The genetics of human skin diseases.
Molecular genetic analyses during the past half-decade have brought unexpected insights into the molecular defects underlying a wide variety of abnormal skin phenotypes. Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.
Epstein
E H
EH
San Francisco General Hospital, University of California, USA. ehepetsin@orca.ucsf.edu
D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics; D007633:Keratins / Q000235:genetics; D008545:Melanoma / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics
D007633:Keratins