1 | EPPK, KRT9 |
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. | |
Codispoti A, Colombo E, Zocchi L, Serra V, Pertusi G, Leigheb G, Tiberio R, Bornacina G, Zuccoli R, Ramponi A, Campione E, Melino G, Terrinoni A. | |
Eur J Dermatol 19(2):114-8. Epub 2008 Dec 23. 2009 | |
2 | EPPK, KRT9 |
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. | |
Feng W, Han W, Man X, Jiang M, Bian C, Wang G, Li X, Yi D, Li J. | |
Eur J Dermatol 18(4):387-90. Epub 2008 Jun 23.PMID: 18573708 2008 | |
3 | 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 | |
4 | KRT9, EPPK |
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. | |
He XH, Zhang XN, Mao W, Chen HP, Xu LR, Chen H, He XL, Le YP. | |
Br J Dermatol 150(4):647-51. 2004 | |
5 | EPPK, KRT9 |
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. | |
Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y. | |
Am J Med Genet 120A(3):345-9. 2003 | |
6 | EPPK, KRT16, KRT9, NEPPK, PC117 |
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. | |
Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G. | |
J Invest Dermatol 114(6):1136-40. 2000 | |
7 | EPPK, KRT9 |
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. | |
Yang JM, Lee S, Kang HJ, Lee JH, Yeo UC, Son IY, Park KB, Steinert PM, Lee ES. | |
Acta Derm Venereol 78 : 412-416. 1998 | |
8 | EPPK, KRT9 |
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. | |
Covello SP, et al. | |
J Invest Dermatol 111 : 1207-1209. 1998 | |
9 | EPPK, KRT9 |
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. | |
Endo H, Hatamochi A, Shinkai H. | |
J Invest Dermatol 109(1):113-5. 1997 | |
10 | EPPK, KRT9 |
Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. | |
Kobayashi S, et al. | |
FEBS Lett 386 : 149-155. 1996 | |
11 | EPPK, KRT9 |
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. | |
Rothnagel JA, et al. | |
J Invest Dermatol 104 : 430-433. 1995 | |
12 | EPPK, KRT9 |
Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. | |
Navsaria HA, et al. | |
J Invest Dermatol 104 : 425-429. 1995 | |
13 | EPPK, KRT9 |
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. | |
Torchard D, et al. | |
Nat Genet 6 : 106-110. 1994 | |
14 | EPPK, KRT9 |
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). | |
Reis A, et al. | |
Nat Genet 6 : 174-179. 1994 | |
15 | EPPK, KRT9 |
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. | |
Hennies HC, et al. | |
Hum Genet 93 : 649-654. 1994 | |
16 | EPPK, KRT9 |
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. | |
Bonifas JM, et al. | |
J Invest Dermatol 103 : 474-477. 1994 | |
17 | EPPK, KRT9 |
Mutations in adjacent codons of human keratin 9 (HK9) gene found in EPPK patients. | |
Bowden PE, et al. | |
Br J Dermatol 131 : 425. 1994 | |