1 | KRT6A, KRT16, KRT17 |
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. | |
Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ. | |
J Dermatol Sci 48(3):199-205. Epub 2007 Aug 24. 2007 | |
2 | KRT1, KRT10, KRT12, KRT13, KRT14, KRT14P, KRT15, KRT16, KRT17, KRT17P3, KRT18, KRT18P12, KRT18P16, KRT18P17, KRT18P18, KRT18P19, KRT18P20, KRT18P21, KRT18P22, KRT18P23, KRT18P24, KRT18P25, KRT18P26, KRT18P27, KRT18P28, KRT18P29, KRT18P30, KRT18P31, KRT18P32, KRT18P33, KRT18P34, KRT18P35, KRT18P36, KRT18P37, KRT18P38, KRT18P39, KRT18P40, KRT18P41, KRT18P42, KRT18P43, KRT18P44, KRT18P45, KRT18P46, KRT18P47, KRT18P48, KRT18P49, KRT18P5, KRT18P50, KRT18P8, KRT19, KRT19P1, KRT19P2, KRT19P3, KRT2, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT3, KRT31, KRT32, KRT33, KRT33A, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT4, KRT40, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KRT8P10, KRT8P13, KRT8P15, KRT8P17, KRT8P18, KRT8P19, KRT8P20, KRT8P21, KRT8P22, KRT8P23, KRT8P24, KRT8P25, KRT8P26, KRT8P27, KRT8P28, KRT8P29, KRT8P30, KRT8P5, KRT8P6, KRT8P7, KRT8P8, KRT8P9, KRT9, KRTAP19-8, KRTAP20-4 |
New consensus nomenclature for mammalian keratins. | |
Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW. | |
J Cell Biol 174(2):169-74. Epub 2006 Jul 10. 2006 | |
3 | KRT6A, PC112 |
A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. | |
Garcia-Rio I, Penas PF, Garcia-Diez A, McLean WH, Smith FJ. | |
Br J Dermatol 152(4):800-2. No abstract available. 2005 | |
4 | PC112, PC117, PC212, PC217, KRT17, KRT16, KRT6A |
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. | |
Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. | |
J Invest Dermatol 117(6):1391-6. 2001 | |
5 | KRT6A, KRT6B |
Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosa. | |
Wong P, Colucci-Guyon E, Takahashi K, Gu C, Babinet C, Coulombe PA. | |
J Cell Biol 150(4):921-8. 2000 | |
6 | KRT6A |
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. | |
Bowden PE, et al. | |
Nat Genet 10 : 363-365. 1995 | |
7 | KRT6A, KRT6B, KRT6C, KRT71 |
Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. | |
Takahashi K, et al. | |
J Biol Chem 270 : 18581-18592. 1995 | |
8 | KRT5, KRT6A, KRT6B, KRT7 |
Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. | |
Rosenberg M, et al. | |
Cytogenet Cell Genet 57 : 33-38. 1991 | |