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Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.[5]
Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14gene.[6][7][8]
^Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID32973163. S2CID221861310.
Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenetics and Cell Genetics. 57 (1): 33–8. doi:10.1159/000133109. PMID1713141.
Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, et al. (November 1993). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nature Genetics. 5 (3): 294–300. doi:10.1038/ng1193-294. PMID7506097. S2CID155219.
Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH (November 1993). "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375". Human Molecular Genetics. 2 (11): 1971–2. doi:10.1093/hmg/2.11.1971. PMID7506606.
Yamanishi K, Matsuki M, Konishi K, Yasuno H (July 1994). "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex". Human Molecular Genetics. 3 (7): 1171–2. doi:10.1093/hmg/3.7.1171. PMID7526926.
Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M (April 1993). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nature Genetics. 3 (4): 327–32. doi:10.1038/ng0493-327. PMID7526933. S2CID20287067.
This page was last edited on 29 January 2023, at 20:26