ケラチン5
関連文献

“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. (Apr 2003). doi:10.1002/humu.9124. PMID 12655565.
“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. (Mar 2005). PMID 15731015.
“Regulation of epidermal keratin expression by retinoic acid and thyroid hormone”. The Journal of Dermatology 19 (11):  774–80. (Nov 1992). doi:10.1111/j.1346-8138.1992.tb03779.x. PMID 1284070.
“A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering”. Nature 356 (6366):  244–6. (Mar 1992). Bibcode: 1992Natur.356..244L. doi:10.1038/356244a0. PMID 1372711.
“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. (Aug 1992). doi:10.1111/1523-1747.ep12616781. PMID 1378478.
“Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12”. Cytogenetics and Cell Genetics 57 (1):  33–8. (1991). doi:10.1159/000133109. PMID 1713141.
“Mapping of epidermolysis bullosa simplex mutation to chromosome 12”. American Journal of Human Genetics 49 (5):  978–84. (Nov 1991). PMC 1683248. PMID 1718160. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683248/.
“Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities”. Science 254 (5035):  1202–5. (Nov 1991). Bibcode: 1991Sci...254.1202B. doi:10.1126/science.1720261. PMID 1720261.
“Sequence and expression of a type II keratin, K5, in human epidermal cells”. Molecular and Cellular Biology 8 (1):  486–93. (Jan 1988). doi:10.1128/mcb.8.1.486. PMC 363157. PMID 2447486. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC363157/.
“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. (Jul 1988). doi:10.1111/1523-1747.ep12463286. PMID 2455002.
“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. (Jun 1988). doi:10.1089/dna.1.1988.7.337. PMID 2456903.
“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. (Sep 1989). doi:10.1128/mcb.9.9.3685. PMC 362429. PMID 2476664. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC362429/.
“Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function”. Nature Genetics 5 (3):  294–300. (Nov 1993). doi:10.1038/ng1193-294. PMID 7506097.
“Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins”. The Journal of Cell Biology 127 (4):  1049–60. (Nov 1994). doi:10.1083/jcb.127.4.1049. PMC 2200061. PMID 7525601. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2200061/.
“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. (Mar 1995). PMC 1801159. PMID 7534039. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801159/.
“A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne”. The Journal of Investigative Dermatology 104 (5):  877–9. (May 1995). doi:10.1111/1523-1747.ep12607050. PMID 7537780.
“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. (Jun 1993). doi:10.1111/1523-1747.ep12475671. PMID 7684424.
“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. (1993). doi:10.1002/humu.1380020206. PMID 7686424.
“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. (Aug 1993). Bibcode: 1993PNAS...90.7414C. doi:10.1073/pnas.90.15.7414. PMC 47148. PMID 7688477. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC47148/.