Citations for
1EPPK, 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
2EPPK, 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
3KRT1, 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
4KRT9, 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
5EPPK, 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
6EPPK, 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
7EPPK, 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
8EPPK, 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
9EPPK, 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
10EPPK, 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
11EPPK, 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
12EPPK, 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
13EPPK, 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
14EPPK, KRT9
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Reis A, et al.
Nat Genet 6 : 174-179. 1994
15EPPK, KRT9
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
Hennies HC, et al.
Hum Genet 93 : 649-654. 1994
16EPPK, KRT9
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
Bonifas JM, et al.
J Invest Dermatol 103 : 474-477. 1994
17EPPK, 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