Genetic skin diseases caused by mutations in keratin intermediate filaments.
Trends Genet
; 9(8): 280-4, 1993 Aug.
Article
en En
| MEDLINE
| ID: mdl-7691000
ABSTRACT
Keratin intermediate filaments are the major differentiation products of epithelial cells such as the epidermis. The filaments are highly dynamic entities involved in the maintenance of the structural integrity of both the individual cells and the entire tissue. Recent biochemical studies suggest that the keratin proteins overlap each other in several key locations when packed together in filaments. Interestingly, mutations that introduce inappropriate amino acid substitutions in at least some of these overlap regions cause defective keratin filaments that result in at least three classes of autosomal dominant skin disease.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Filamentos Intermedios
/
Queratinas
/
Mutación
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Trends Genet
Asunto de la revista:
GENETICA
Año:
1993
Tipo del documento:
Article