Citations for
1KRT6A, 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
2KRT1, 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
3KRT6A, 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
4PC112, 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
5KRT6A, 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
6KRT6A
Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
Bowden PE, et al.
Nat Genet 10 : 363-365. 1995
7KRT6A, 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
8KRT5, 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