参考:
GRCh38: Ensembl release 89: ENSG00000186081 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000061527 - Ensembl, May 2017
"Human PubMed Reference:".
"Mouse PubMed Reference:".
"Entrez Gene: KRT5 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)".
Lersch R, Fuchs E (Jan 1988). "Sequence and expression of a type II keratin, K5, in human epidermal cells". Molecular and Cellular Biology. 8 (1): 486–93. doi:10.1128/mcb.8.1.486. PMC 363157. PMID 2447486.
Eckert RL, Rorke EA (Jun 1988). "The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins". Dna. 7 (5): 337–45. doi:10.1089/dna.1.1988.7.337. PMID 2456903.
Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E (Apr 1994). "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex". Journal of Cell Science. 107 (4): 765–74. PMID 7520042.
Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH (Oct 2011). "Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex". The Journal of Investigative Dermatology. 131 (10): 2079–86. doi:10.1038/jid.2011.169. PMID 21716320.
Mulvihill MS, Kratz JR, Pham P, Jablons DM, He B (Feb 2013). "The role of stem cells in airway repair: implications for the origins of lung cancer". Chinese Journal of Cancer. 32 (2). doi:10.5732/cjc.012.10097. PMC 3845611. PMID 23114089.
van de Rijn M, Perou CM, Tibshirani R, Haas P, Kallioniemi O, Kononen J, Torhorst J, Sauter G, Zuber M, Köchli OR, Mross F, Dieterich H, Seitz R, Ross D, Botstein D, Brown P (Dec 2002). "Expression of cytokeratins 17 and 5 identifies a group of breast carcinomas with poor clinical outcome". The American Journal of Pathology. 161 (6): 1991–1996. doi:10.1016/S0002-9440(10)64476-8. PMC 1850928. PMID 12466114.
Shinkuma, Satoru, et al. "A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains." Acta dermato-venereologica 93.5 (2013): 585-587.
Ramírez A, Bravo A, Jorcano JL, Vidal M (Nov 1994). "Sequences 5' of the bovine keratin 5 gene direct tissue- and cell-type-specific expression of a lacZ gene in the adult and during development". Differentiation; Research in Biological Diversity. 58 (1): 53–64. doi:10.1046/j.1432-0436.1994.5810053.x. PMID 7532601.
Bouameur, Jamal-Eddine, et al. "Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure." Journal of Investigative Dermatology 134.11 (2014): 2776-2783.
Coulombe PA, Omary MB (Feb 2002). "'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments". Current Opinion in Cell Biology. 14 (1): 110–22. doi:10.1016/S0955-0674(01)00301-5. PMID 11792552.
Intong, Lizbeth RA, and Dédée F. Murrell. "Inherited epidermolysis bullosa: new diagnostic criteria and classification." Clinics in Dermatology 30.1 (2012): 70-77.
Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R (Jun 2001). "A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes". The Journal of Investigative Dermatology. 116 (6): 964–9. doi:10.1046/j.1523-1747.2001.01334.x. PMID 11407988..
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Further reading
Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H (Apr 2003). "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations". Human Mutation. 21 (4): 447. doi:10.1002/humu.9124. PMID 12655565.
Seibert JA, Boone JM (Mar 2005). "X-ray imaging physics for nuclear medicine technologists. Part 2: X-ray interactions and image formation". Journal of Nuclear Medicine Technology. 33 (1): 3–18. PMID 15731015.
Ohtsuki M, Tomic-Canic M, Freedberg IM, Blumenberg M (Nov 1992). "Regulation of epidermal keratin expression by retinoic acid and thyroid hormone". The Journal of Dermatology. 19 (11): 774–80. doi:10.1111/j.1346-8138.1992.tb03779.x. PMID 1284070.
Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA (Mar 1992). "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering". Nature. 356 (6366): 244–6. doi:10.1038/356244a0. PMID 1372711.
Tavakkol A, Griffiths CE, Keane KM, Palmer RD, Voorhees JJ (Aug 1992). "Cellular localization of mRNA for cellular retinoic acid-binding protein II and nuclear retinoic acid receptor-gamma 1 in retinoic acid-treated human skin". The Journal of Investigative Dermatology. 99 (2): 146–50. doi:10.1111/1523-1747.ep12616781. PMID 1378478.
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. PMID 1713141.
Ryynänen M, Knowlton RG, Uitto J (Nov 1991). "Mapping of epidermolysis bullosa simplex mutation to chromosome 12". American Journal of Human Genetics. 49 (5): 978–84. PMC 1683248. PMID 1718160.
Bonifas JM, Rothman AL, Epstein EH (Nov 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science. 254 (5035): 1202–5. doi:10.1126/science.1720261. PMID 1720261.
Lersch R, Fuchs E (Jan 1988). "Sequence and expression of a type II keratin, K5, in human epidermal cells". Molecular and Cellular Biology. 8 (1): 486–93. doi:10.1128/mcb.8.1.486. PMC 363157. PMID 2447486.
Galup C, Darmon MY (Jul 1988). "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin". The Journal of Investigative Dermatology. 91 (1): 39–42. doi:10.1111/1523-1747.ep12463286. PMID 2455002.
Eckert RL, Rorke EA (Jun 1988). "The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins". Dna. 7 (5): 337–45. doi:10.1089/dna.1.1988.7.337. PMID 2456903.
Lersch R, Stellmach V, Stocks C, Giudice G, Fuchs E (Sep 1989). "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control". Molecular and Cellular Biology. 9 (9): 3685–97. doi:10.1128/mcb.9.9.3685. PMC 362429. PMID 2476664.
Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB (Nov 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. PMID 7506097.
Kouklis PD, Hutton E, Fuchs E (Nov 1994). "Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins". The Journal of Cell Biology. 127 (4): 1049–60. doi:10.1083/jcb.127.4.1049. PMC 2200061. PMID 7525601.
Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP (Mar 1995). "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function". American Journal of Human Genetics. 56 (3): 577–85. PMC 1801159. PMID 7534039.
Ehrlich P, Sybert VP, Spencer A, Stephens K (May 1995). "A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne". The Journal of Investigative Dermatology. 104 (5): 877–9. doi:10.1111/1523-1747.ep12607050. PMID 7537780.
Wanner R, Förster HH, Tilmans I, Mischke D (Jun 1993). "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12". The Journal of Investigative Dermatology. 100 (6): 735–41. doi:10.1111/1523-1747.ep12475671. PMID 7684424.
Dong W, Ryynänen M, Uitto J (1993). "Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex". Human Mutation. 2 (2): 94–102. doi:10.1002/humu.1380020206. PMID 7686424.
Chan YM, Yu QC, Fine JD, Fuchs E (Aug 1993). "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex". Proceedings of the National Academy of Sciences of the United States of America. 90 (15): 7414–8. doi:10.1073/pnas.90.15.7414. PMC 47148. PMID 7688477.