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Volumn 29, Issue 12, 2002, Pages 768-772

A keratin 9 gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma

Author keywords

Epidermolytic; Gene; Keratin 9; Mutation; Palmoplantar keratoderma

Indexed keywords

ASPARAGINE; KERATIN; KERATIN 9; SERINE; UNCLASSIFIED DRUG;

EID: 0036959627     PISSN: 03852407     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2002.tb00220.x     Document Type: Article
Times cited : (8)

References (17)
  • 1
    • 0025883936 scopus 로고
    • Hereditary, epidermolytic palmo-plantar keratoderma(Vörner type)-Report of a family and review of the literature
    • Requena L, Schoendorff C, Sanchez Yus E: Hereditary, epidermolytic palmo-plantar keratoderma(Vörner type)-Report of a family and review of the literature, Clin Exp Dermatol, 16: 383-388, 1991.
    • (1991) Clin Exp Dermatol , vol.16 , pp. 383-388
    • Requena, L.1    Schoendorff, C.2    Sanchez Yus, E.3
  • 2
    • 0019497112 scopus 로고
    • Hereditary epidermolytic palmoplantar keratoderma
    • Blasik LG, Dimond RL, Baughman RD: Hereditary epidermolytic palmoplantar keratoderma, Arch Dermatol, 117: 229-231, 1981.
    • (1981) Arch Dermatol , vol.117 , pp. 229-231
    • Blasik, L.G.1    Dimond, R.L.2    Baughman, R.D.3
  • 3
    • 0023765783 scopus 로고
    • Epidermolytic palmoplantar keratoderma of Vörner: Is it the most frequent type of hereditary palmoplantar keratoderma?
    • Hamm H, Happle R, Butterfass T, Traupe H: Epidermolytic palmoplantar keratoderma of Vörner: Is it the most frequent type of hereditary palmoplantar keratoderma?, Dermatologica, 177: 138-145, 1988.
    • (1988) Dermatologica , vol.177 , pp. 138-145
    • Hamm, H.1    Happle, R.2    Butterfass, T.3    Traupe, H.4
  • 4
    • 0022454679 scopus 로고
    • Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity
    • Knapp AC, Franke WW, Heid H, Hatzfeld M, Jorcano JL, Moll R: Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity, J Cel Biol, 103: 657-667, 1986.
    • (1986) J Cel Biol , vol.103 , pp. 657-667
    • Knapp, A.C.1    Franke, W.W.2    Heid, H.3    Hatzfeld, M.4    Jorcano, J.L.5    Moll, R.6
  • 5
    • 0027771149 scopus 로고
    • Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression
    • Langbein L, Heid HW, Moll I, Franke WW: Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression, Differentiation, 55: 57-71, 1993.
    • (1993) Differentiation , vol.55 , pp. 57-71
    • Langbein, L.1    Heid, H.W.2    Moll, I.3    Franke, W.W.4
  • 6
    • 0028019682 scopus 로고
    • Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis
    • Bonifas JM, Matsumura K, Chen MA, et al: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis, J Invest Dermatol, 103: 474-477, 1994.
    • (1994) J Invest Dermatol , vol.103 , pp. 474-477
    • Bonifas, J.M.1    Matsumura, K.2    Chen, M.A.3
  • 7
    • 0032456470 scopus 로고    scopus 로고
    • Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland
    • 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, 111: 1207-1209, 1998.
    • (1998) J Invest Dermatol , vol.111 , pp. 1207-1209
    • Covello, S.P.1    Irvine, A.D.2    McKenna, K.E.3
  • 8
    • 0030738735 scopus 로고    scopus 로고
    • A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma
    • 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, 109: 113-115, 1997.
    • (1997) J Invest Dermatol , vol.109 , pp. 113-115
    • Endo, H.1    Hatamochi, A.2    Shinkai, H.3
  • 9
    • 0028276415 scopus 로고
    • Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
    • Hennies HC, Zehender D, Kunze J, Kuster W, Reis A: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma, Hum Genet, 93: 649-654, 1994.
    • (1994) Hum Genet , vol.93 , pp. 649-654
    • Hennies, H.C.1    Zehender, D.2    Kunze, J.3    Kuster, W.4    Reis, A.5
  • 10
    • 0029905530 scopus 로고    scopus 로고
    • Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation
    • Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S: Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation, FEBS lett, 386: 149-155, 1996.
    • (1996) FEBS Lett , vol.386 , pp. 149-155
    • Kobayashi, S.1    Tanaka, T.2    Matsuyoshi, N.3    Imamura, S.4
  • 11
    • 0028242804 scopus 로고
    • Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
    • Reis A, Hennies HC, Langbein L, et al: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK), Nat Genet, 6: 174-179, 1994.
    • (1994) Nat Genet , vol.6 , pp. 174-179
    • Reis, A.1    Hennies, H.C.2    Langbein, L.3
  • 12
    • 0028939467 scopus 로고
    • Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma
    • Rothnagel JA, Wojcik s, Liefer K, et al: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma, J Invest Dermatol, 104: 430-433, 1995.
    • (1995) J Invest Dermatol , vol.104 , pp. 430-433
    • Rothnagel, J.A.1    Wojcik, S.2    Liefer, K.3
  • 13
    • 0028359660 scopus 로고
    • Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
    • Torchard D, Blanchet-Bardon C, Serova O, et al: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer, Nat Genet, 6: 106-110, 1994.
    • (1994) Nat Genet , vol.6 , pp. 106-110
    • Torchard, D.1    Blanchet-Bardon, C.2    Serova, O.3
  • 14
    • 0032915536 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif
    • Coleman CM, Munro CS, Smith FJ, Uitto J, McLean WH: 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, 140: 486-490, 1999.
    • (1999) Br J Dermatol , vol.140 , pp. 486-490
    • Coleman, C.M.1    Munro, C.S.2    Smith, F.J.3    Uitto, J.4    McLean, W.H.5
  • 15
    • 0025284699 scopus 로고
    • The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer
    • Steinert PM: The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer, J Biol Chem, 265: 8766-8774, 1990.
    • (1990) J Biol Chem , vol.265 , pp. 8766-8774
    • Steinert, P.M.1
  • 16
    • 33749357063 scopus 로고
    • Intermediate filament structure: 3. Analysis of sequence homologies
    • Conway JF, Parry DAD: Intermediate filament structure: 3. Analysis of sequence homologies, Int J Biol Macromol, 10: 79-98, 1988.
    • (1988) Int J Biol Macromol , vol.10 , pp. 79-98
    • Conway, J.F.1    Parry, D.A.D.2
  • 17
    • 0012647560 scopus 로고
    • Mutation of human keratin 9 (HK9) gene in epidermolytic tylosis
    • Bowden PE, Watts CE, Marks R: Mutation of human keratin 9 (HK9) gene in epidermolytic tylosis (Abstr), J Invest Dermatol, 102: 576, 1994.
    • (1994) J Invest Dermatol , vol.102 , pp. 576
    • Bowden, P.E.1    Watts, C.E.2    Marks, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.