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Volumn 120 A, Issue 3, 2003, Pages 345-349

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads

Author keywords

Epidermolytic palmoplantar keratoderma; Keratin 9; Knuckle pads; KRT9; Mutation

Indexed keywords

KERATIN; KERATIN 9; UNCLASSIFIED DRUG;

EID: 0041413308     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20090     Document Type: Article
Times cited : (31)

References (27)
  • 1
    • 44049114483 scopus 로고
    • Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12
    • Bonifas JM, Bare JW, Chen MA, Lee MK, Slater CA, Goldsmith LA, Epstein EH. 1992. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. J Invest Dermatol 99(5):524-527.
    • (1992) J Invest Dermatol , vol.99 , Issue.5 , pp. 524-527
    • Bonifas, J.M.1    Bare, J.W.2    Chen, M.A.3    Lee, M.K.4    Slater, C.A.5    Goldsmith, L.A.6    Epstein, E.H.7
  • 3
    • 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. 1999. 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(3):486-490.
    • (1999) Br J Dermatol , vol.140 , Issue.3 , pp. 486-490
    • Coleman, C.M.1    Munro, C.S.2    Smith, F.J.3    Uitto, J.4    McLean, W.H.5
  • 4
    • 0025341392 scopus 로고
    • Elucidating the early stages of keratin filament assembly
    • Coulombe PA, Fuchs E. 1990. Elucidating the early stages of keratin filament assembly. J Cell Biol 111(1):153-169.
    • (1990) J Cell Biol , vol.111 , Issue.1 , pp. 153-169
    • Coulombe, P.A.1    Fuchs, E.2
  • 6
    • 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. 1997. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol 109(1):113-115.
    • (1997) J Invest Dermatol , vol.109 , Issue.1 , pp. 113-115
    • Endo, H.1    Hatamochi, A.2    Shinkai, H.3
  • 7
    • 33646219089 scopus 로고    scopus 로고
    • Expasy: http://www.expasy.ch/cgi-bin/niceprot.pl?P35527
  • 8
    • 0023555768 scopus 로고
    • Further developments of protein secondary structure prediction using information theory. New parameters and consideration of residue pairs
    • Gibrat JF, Garnier J, Robson B. 1987. Further developments of protein secondary structure prediction using information theory. New parameters and consideration of residue pairs. Mol Biol 198(3):425-443.
    • (1987) Mol Biol , vol.198 , Issue.3 , pp. 425-443
    • Gibrat, J.F.1    Garnier, J.2    Robson, B.3
  • 9
    • 0020614212 scopus 로고
    • The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins
    • Hanukoglu I, Fuchs E. 1983. The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell 33(3):915-924.
    • (1983) Cell , vol.33 , Issue.3 , pp. 915-924
    • Hanukoglu, I.1    Fuchs, E.2
  • 10
    • 0025352896 scopus 로고
    • Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
    • Heald R, McKeon F. 1990. Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell 18 61(4):579-589.
    • (1990) Cell , vol.61 , Issue.4 , pp. 579-589
    • Heald, R.1    McKeon, F.2
  • 11
    • 0028276415 scopus 로고
    • Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
    • Hennies HC, Zehender D, Kunze J, Kuster W, Reis A. 1994. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 93(6):649-654.
    • (1994) Hum Genet , vol.93 , Issue.6 , pp. 649-654
    • Hennies, H.C.1    Zehender, D.2    Kunze, J.3    Kuster, W.4    Reis, A.5
  • 12
    • 0022454679 scopus 로고
    • Cytokeratin No. 9, an epidermal type I keratin characteristic ofa special program of keratinocyte differentiation displaying body site specificity
    • Knapp AC, Franke WW, Heid H, Hatzfeld M, Jorcano JL, Moll R. 1986. Cytokeratin No. 9, an epidermal type I keratin characteristic ofa special program of keratinocyte differentiation displaying body site specificity. J Cell Biol 103(2):657-667.
    • (1986) J Cell Biol , vol.103 , Issue.2 , pp. 657-667
    • Knapp, A.C.1    Franke, W.W.2    Heid, H.3    Hatzfeld, M.4    Jorcano, J.L.5    Moll, R.6
  • 13
    • 0033007650 scopus 로고    scopus 로고
    • Demonstration of the pathogenic effect of point mutated keratin 9 in vivo
    • Kobayashi S, Kore-eda S, Tanaka T. 1999. Demonstration of the pathogenic effect of point mutated keratin 9 in vivo. FEBS Lett 19 447(1):39-43.
    • (1999) FEBS Lett , vol.447 , Issue.1 , pp. 39-43
    • Kobayashi, S.1    Kore-eda, S.2    Tanaka, T.3
  • 14
    • 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. 1993. Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 55:57-72.
    • (1993) Differentiation , vol.55 , pp. 57-72
    • Langbein, L.1    Heid, H.W.2    Moll, I.3    Franke, W.W.4
  • 15
    • 0020555508 scopus 로고
    • Estimating genotype relative risks
    • Lathrop GM. 1983. Estimating genotype relative risks. Tissue Antigens 22(2):160-166.
    • (1983) Tissue Antigens , vol.22 , Issue.2 , pp. 160-166
    • Lathrop, G.M.1
  • 17
    • 0017379297 scopus 로고
    • Structure of alpha-keratin: Structural implication of the amino acid sequences of the type I and type II chain segments
    • Parry DA, Crewther WG, Fraser RD, MacRae TP. 1977. Structure of alpha-keratin: Structural implication of the amino acid sequences of the type I and type II chain segments. J Mol Biol 113(2):449-454.
    • (1977) J Mol Biol , vol.113 , Issue.2 , pp. 449-454
    • Parry, D.A.1    Crewther, W.G.2    Fraser, R.D.3    MacRae, T.P.4
  • 18
    • 0026786730 scopus 로고
    • Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21
    • Reis A, Kuster W, Eckardt R, Sperling K. 1992. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum Genet 90:113-116.
    • (1992) Hum Genet , vol.90 , pp. 113-116
    • Reis, A.1    Kuster, W.2    Eckardt, R.3    Sperling, K.4
  • 20
    • 0023867610 scopus 로고
    • A group of type I keratin genes on human chromosome 17: Characterization and expression
    • Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E. 1988. A group of type I keratin genes on human chromosome 17: Characterization and expression. Mol Cell Biol 8(2):722-736.
    • (1988) Mol Cell Biol , vol.8 , Issue.2 , pp. 722-736
    • Rosenberg, M.1    RayChaudhury, A.2    Shows, T.B.3    Le Beau, M.M.4    Fuchs, E.5
  • 22
    • 0025284699 scopus 로고
    • The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer
    • Steinert PM. 1990. The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem 265(15):8766-8774.
    • (1990) J Biol Chem , vol.265 , Issue.15 , pp. 8766-8774
    • Steinert, P.M.1
  • 23
    • 0027160097 scopus 로고
    • Structure, function, and dynamics of keratin intermediate filaments
    • Steinert PM. 1993. Structure, function, and dynamics of keratin intermediate filaments. Invest Dermatol 100(6):729-734.
    • (1993) Invest Dermatol , vol.100 , Issue.6 , pp. 729-734
    • Steinert, P.M.1
  • 25
    • 0027160195 scopus 로고
    • Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
    • Steinert PM, Marekov LN, Fraser RD, Parry DA. 1993a. Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. Mol Biol 230(2):436-452.
    • (1993) Mol Biol , vol.230 , Issue.2 , pp. 436-452
    • Steinert, P.M.1    Marekov, L.N.2    Fraser, R.D.3    Parry, D.A.4
  • 26
    • 0027730471 scopus 로고
    • Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses
    • Steinert PM, Yang JM, Bale SJ, Compton JG. 1993b. Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun 197(2):840-848.
    • (1993) Biochem Biophys Res Commun , vol.197 , Issue.2 , pp. 840-848
    • Steinert, P.M.1    Yang, J.M.2    Bale, S.J.3    Compton, J.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.