Gene Review:
KRT14 - keratin 14, type I
Homo sapiens
Synonyms:
CK-14, CK14, Cytokeratin-14, EBS3, EBS4, ...
van Leenders,
Aalders,
Hulsbergen-van de Kaa,
Ruiter,
Schalken,
Apaydin,
Gürbüz,
Bayramgürler,
Bilen,
Hudson,
Guy,
Fry,
O'Hare,
Watt,
Masters,
Kurokawa,
Nishimura,
Hakamada,
Isoda,
Yamanaka,
Mizutani,
Tsubura,
Sørensen,
Andresen,
Jensen,
Jensen,
Jensen,
Gregersen,
Bolund,
Liovic,
Bowden,
Marks,
Komel,
- A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex. Indelman, M., Bergman, R., Sprecher, E. J. Invest. Dermatol. (2005)
- Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. Sørensen, C.B., Andresen, B.S., Jensen, U.B., Jensen, T.G., Jensen, P.K., Gregersen, N., Bolund, L. Exp. Dermatol. (2003)
- Distribution of p63, cytokeratins 5/6 and cytokeratin 14 in 51 normal and 400 neoplastic human tissue samples using TARP-4 multi-tumor tissue microarray. Reis-Filho, J.S., Simpson, P.T., Martins, A., Preto, A., Gärtner, F., Schmitt, F.C. Virchows Arch. (2003)
- Comparative cytokeratin distribution patterns in cholesteatoma epithelium. Olszewska, E., Sudhoff, H. Histol. Histopathol. (2007)
- Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14. Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H.C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J.A., Richard, G., Sprecher, E. Am. J. Hum. Genet. (2006)
- Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Reis, A., Hennies, H.C., Langbein, L., Digweed, M., Mischke, D., Drechsler, M., Schröck, E., Royer-Pokora, B., Franke, W.W., Sperling, K. Nat. Genet. (1994)
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. Nat. Genet. (1993)
- The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cheng, J., Syder, A.J., Yu, Q.C., Letai, A., Paller, A.S., Fuchs, E. Cell (1992)
- Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14. Premaratne, C., Klingberg, S., Glass, I., Wright, K., Murrell, D. Australas. J. Dermatol. (2002)
- Expression of basal cell keratins in human prostate cancer metastases and cell lines. van Leenders, G.J., Aalders, T.W., Hulsbergen-van de Kaa, C.A., Ruiter, D.J., Schalken, J.A. J. Pathol. (2001)
- Normal human urothelial cells in vitro: proliferation and induction of stratification. Southgate, J., Hutton, K.A., Thomas, D.F., Trejdosiewicz, L.K. Lab. Invest. (1994)
- Basal cell-specific and hyperproliferation-related keratins in human breast cancer. Wetzels, R.H., Kuijpers, H.J., Lane, E.B., Leigh, I.M., Troyanovsky, S.M., Holland, R., van Haelst, U.J., Ramaekers, F.C. Am. J. Pathol. (1991)
- Mutagenesis of the conserved lysine 14 of cytochrome c-550 from Thiobacillus versutus affects the protein structure and the electron self-exchange rate. Ubbink, M., Canters, G.W. Biochemistry (1993)
- Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. Pfendner, E.G., Sadowski, S.G., Uitto, J. J. Invest. Dermatol. (2005)
- Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. Hut, P.H., v d Vlies, P., Jonkman, M.F., Verlind, E., Shimizu, H., Buys, C.H., Scheffer, H. J. Invest. Dermatol. (2000)
- Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. Csikós, M., Szalai, Z., Becker, K., Sebõk, B., Schneider, I., Horváth, A., Kárpáti, S. Exp. Dermatol. (2004)
- A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. Müller, F.B., Anton-Lamprecht, I., Küster, W., Korge, B.P. J. Invest. Dermatol. (1999)
- Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. Stephens, K., Ehrlich, P., Weaver, M., Le, R., Spencer, A., Sybert, V.P. J. Invest. Dermatol. (1997)
- A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. Liovic, M., Stojan, J., Bowden, P.E., Gibbs, D., Vahlquist, A., Lane, E.B., Komel, R. J. Invest. Dermatol. (2001)
- Induction of epithelial to mesenchymal transition in PMC42-LA human breast carcinoma cells by carcinoma-associated fibroblast secreted factors. Lebret, S.C., Newgreen, D.F., Thompson, E.W., Ackland, M.L. Breast Cancer Res. (2007)
- Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Bonifas, J.M., Rothman, A.L., Epstein, E.H. Science (1991)
- Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. Shemanko, C.S., Horn, H.M., Keohane, S.G., Hepburn, N., Kerr, A.I., Atherton, D.J., Tidman, M.J., Lane, E.B. Br. J. Dermatol. (2000)
- Kinetin-induced differentiation of normal human keratinocytes undergoing aging in vitro. Berge, U., Kristensen, P., Rattan, S.I. Ann. N. Y. Acad. Sci. (2006)
- The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro. Bousquet, O., Ma, L., Yamada, S., Gu, C., Idei, T., Takahashi, K., Wirtz, D., Coulombe, P.A. J. Cell Biol. (2001)
- Expression of keratins in normal, immortalized and malignant oral epithelia in organotypic culture. Hansson, A., Bloor, B.K., Haig, Y., Morgan, P.R., Ekstrand, J., Grafström, R.C. Oral Oncol. (2001)
- Epithelial cell differentiation pathways in the human prostate: identification of intermediate phenotypes by keratin expression. Hudson, D.L., Guy, A.T., Fry, P., O'Hare, M.J., Watt, F.M., Masters, J.R. J. Histochem. Cytochem. (2001)
- Differential expression of CD44 during human prostate epithelial cell differentiation. Alam, T.N., O'Hare, M.J., Laczkó, I., Freeman, A., Al-Beidh, F., Masters, J.R., Hudson, D.L. J. Histochem. Cytochem. (2004)
- The human cysteine protease cathepsin V can compensate for murine cathepsin L in mouse epidermis and hair follicles. Hagemann, S., Günther, T., Dennemärker, J., Lohmüller, T., Brömme, D., Schüle, R., Peters, C., Reinheckel, T. Eur. J. Cell Biol. (2004)
- Cutaneous dermoid cyst: cytokeratin and filaggrin expression suggesting differentiation towards follicular infundibulum and mature sebaceous gland. Kurokawa, I., Nishimura, K., Hakamada, A., Isoda, K., Yamanaka, K., Mizutani, H., Tsubura, A. Oncol. Rep. (2006)
- Keratin expression in the normal anal canal. Williams, G.R., Talbot, I.C., Northover, J.M., Leigh, I.M. Histopathology (1995)
- Epithelial and prostatic marker expression in short-term primary cultures of human prostate tissue samples. Festuccia, C., Angelucci, A., Gravina, G.L., Muzi, P., Miano, R., Vicentini, C., Bologna, M. Int. J. Oncol. (2005)
- Cytokeratin contents of basal cell carcinoma, epidermis overlying tumour, and associated stromal amyloidosis: an immunohistochemical study. Apaydin, R., Gürbüz, Y., Bayramgürler, D., Bilen, N. Amyloid (2005)
- Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Schuilenga-Hut, P.H., Vlies, P., Jonkman, M.F., Waanders, E., Buys, C.H., Scheffer, H. Hum. Mutat. (2003)
- A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Liovic, M., Bowden, P.E., Marks, R., Komel, R. Exp. Dermatol. (2004)
- A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. Gu, L.H., Ichiki, Y., Sato, M., Kitajima, Y. J. Dermatol. (2002)
- A three-dimensional model of differentiation of immortalized human bronchial epithelial cells. Vaughan, M.B., Ramirez, R.D., Wright, W.E., Minna, J.D., Shay, J.W. Differentiation (2006)
- Cytokeratin 14 expression in rat liver cells in culture and localization in vivo. Blouin, R., Blouin, M.J., Royal, I., Grenier, A., Roop, D.R., Loranger, A., Marceau, N. Differentiation (1992)
- Regulation of calprotectin expression by interleukin-1alpha and transforming growth factor-beta in human gingival keratinocytes. Hayashi, N., Kido, J., Kido, R., Wada, C., Kataoka, M., Shinohara, Y., Nagata, T. J. Periodont. Res. (2007)