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MeSH Review

Skin Diseases, Genetic

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High impact information on Skin Diseases, Genetic

  • Of mice and men: genetic skin diseases of keratin [1].
  • In the rare genetic skin disease lipoid proteinosis, which is characterized by a loss-of-function mutation in the ECM1 gene, skin areas habitually exposed to the sun may show a more severely scarred and photoaged appearance [2].

Biological context of Skin Diseases, Genetic


Gene context of Skin Diseases, Genetic


  1. Of mice and men: genetic skin diseases of keratin. Fuchs, E., Coulombe, P.A. Cell (1992) [Pubmed]
  2. Expression of extracellular matrix protein 1 (ECM1) in human skin is decreased by age and increased upon ultraviolet exposure. Sander, C.S., Sercu, S., Ziemer, M., Hipler, U.C., Elsner, P., Thiele, J.J., Merregaert, J. Br. J. Dermatol. (2006) [Pubmed]
  3. Intermediate filament protein polymerization: molecular analysis of Drosophila nuclear lamin head-to-tail binding. Stuurman, N., Sasse, B., Fisher, P.A. J. Struct. Biol. (1996) [Pubmed]
  4. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. Ishida-Yamamoto, A., McGrath, J.A., Chapman, S.J., Leigh, I.M., Lane, E.B., Eady, R.A. J. Invest. Dermatol. (1991) [Pubmed]
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