Index > Vol. 83/2003 > Iss. 4/July > pp. 303-305 > Abstract
 

Novel N160I Mutation of Keratin 9 in a Large Pedigree from Hungary with Epidermolytic Palmoplantar Keratoderma

doi: 10.1080/00015550310016652

Abstract:

This article does not have an abstract.

References:

  1. Fuchs E, Green H Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 1980; 19: 1033-1042
  2. Vörner H Zur Kenntnis des Keratoma hereditarium palmare et plantare. Arch Derm Syph 1901; 56: 3-31
  3. Reis A, Kuster W, Eckardt R, et al Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-21. Hum Genet 1992; 90: 113-116
  4. Reis A, Hennies HC, Langbein L, et al Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994; 6: 174-179
  5. Covello SP, Irvine AD, McKenna KE, et al Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 1998; 111: 1207-1209
  6. Coleman CM, Munro CS, Smith FJ, et al Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Br J Dermatol 1999; 140: 486-490
  7. Yang JM, Lee S, Kang HJ, et al Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. Acta Derm Venereol 1998; 78: 412-416
  8. Endo H, Hatamochi A, Shinkai H A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol 1997; 109: 113-115
  9. Rothnagel JA, Wojcik S, Liefer KM, et al Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. J Invest Dermatol 1995; 104: 430-433
  10. Navsaria HA, Swensson O, Ratnavel RC, et al Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol 1995; 104: 425-429
  11. Bonifas JM, Matsumura K, Chen MA, et al Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J Invest Dermatol 1994; 103: 474-477
  12. Szalai S, Szalai Cs, Becker K, et al Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. Ped Dermatol 1999; 16: 430-435
  13. Kuster W, Becker A Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vorner. Thost's family revisited 110 years later. Acta Derm Venereol 1992; 72: 120-122
  14. Letai A, Coulombe PA, Fuchs E Do the ends justify the means? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 1992; 116: 1181-1195
  15. Corden LD, McLean WH Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 1996; 5: 297-307