Keratins are the type I and II intermediate filament proteins which form a cytoskeletal network
within all epithelial cells. They are expressed in pairs in a tissue-and differentiation-specific …

Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal
keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding …

Intermediate filament (IF) assembly is remarkable, in that it appears to be self-driven by the
primary sequence of IF proteins, a family (40-220 kd) with diverse sequences, but similar …

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases
characterized by blistering, due to mechanical stress-induced degeneration of basal …

Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in
epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a …

Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a
marked thickening of the stratum corneum. In one family, affected individuals exhibited a …

Keratins are the major structural proteins of the epidermis. Analyzing keratin gene
sequences, appreciating the switch in keratin gene expression that takes place as epidermal …

In human patients, a wide range of mutations in keratin (K) 5 or K14 lead to the blistering
skin disorder epidermolysis bullosa simplex. Given that K14 deficiency does not lead to the …

We studied a kindred with recessive epidermolysis bullosa simplex in which the affected
members lacked expression of the basal cell keratin 14. The patients had severe …

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases
characterized by blistering, due to mechanical-stress-induced degeneration of basal …