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MeSH Review:

Skin Diseases, Genetic

Sander, C.S. et al., Stuurman, N. et al., Ishida-Yamamoto, A. et al., Fuchs, E. et al.

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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

Two were identical to point mutations in specific human keratin genes known to affect keratin assembly and to cause genetic skin diseases [3].

Gene context of Skin Diseases, Genetic

DM-EBS may become the first genetic skin disease to be recognized as having a specific keratin abnormality [4].

References

Of mice and men: genetic skin diseases of keratin. Fuchs, E., Coulombe, P.A. Cell (1992) [Pubmed]
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]
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]
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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