KRT14
Pathology
germline mutations in
- Koebner type epidermolysis bullosa simplex (MIM.131900)
- Dowling-Meara type epidermolysis bullosa simplex (MIM.131760)
- recessive epidermolysis bullosa simplex
- Weber-Cockayne type epidermolysis bullosa simplex (MIM.131800)
Autoantibodies in Scurfy mice and IPEX patients recognize keratin 14. (#20147963#)
References
Autoantibodies in Scurfy mice and IPEX patients recognize keratin 14. Huter EN, Natarajan K, Torgerson TR, Glass DD, Shevach EM. J Invest Dermatol. 2010 May;130(5):1391-9. PMID: #20147963#
Schroder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. PMID: #12071635#
Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov;103(5 Suppl):25S-30S. PMID: #7525738#
Eady RA, Dunnill MG. Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. Arch Dermatol Res. 1994;287(1):2-9. PMID: #7537032#