...Tong San Tan; John E. A. Common; John S. Y. Lim; Cedric Badowski; Muhammad Jasrie Firdaus; Steven S. Leonardi; E. Birgitte Lane ABSTRACT In the skin fragility disorder epidermolysis bullosa simplex (EBS), mutations in keratin 14 (K14, also known as KRT14) or keratin 5 (K5, also known as KRT5) lead...

... epidermis, cause the severe skin blistering disease epidermolysis bullosa simplex (EBS). EBS-associated mutations disrupt keratin networks and change keratinocyte mechanics; however, molecular mechanisms by which mutations shape EBS pathology remain incompletely understood. Here, we demonstrate...

... of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J. Invest. Dermatol. 78 , 219 -223. Helfand, B. T., Mikami, A., Vallee, R. B. and Goldman, R. D. ( 2002 ). A requirement for cytoplasmic dynein and dynactin in intermediate...

... stress response has been monitored in keratinocyte cells lines carrying K5 or K14 mutations, which are associated with varying severity of epidermolysis bullosa simplex. Cells with severe mutations were more sensitive to osmotic stress and took longer to recover from it. Their stress-activated response...