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Volumn 30, Issue 1, 2005, Pages 64-67

Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; KERATIN TYPE 1; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 13244259262     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01661.x     Document Type: Article
Times cited : (12)

References (11)
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    • Kimyai-Asadi, A.1    Kotcher, L.B.2    Jih, M.H.3
  • 2
    • 0026612429 scopus 로고
    • A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
    • Chipev CC, Korge BP, Markova N et al. A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992; 70: 821-8.
    • (1992) Cell , vol.70 , pp. 821-828
    • Chipev, C.C.1    Korge, B.P.2    Markova, N.3
  • 3
    • 0026781694 scopus 로고
    • Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis
    • Rothnagel JA, Dominey AM, Dempsey LD et al. Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257: 1128-30.
    • (1992) Science , vol.257 , pp. 1128-1130
    • Rothnagel, J.A.1    Dominey, A.M.2    Dempsey, L.D.3
  • 4
    • 0028110879 scopus 로고
    • Clinical heterogeneity in epidermolytic hyperkeratosis
    • DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 1994; 130: 1026-35.
    • (1994) Arch Dermatol , vol.130 , pp. 1026-1035
    • DiGiovanna, J.J.1    Bale, S.J.2
  • 5
    • 0034872664 scopus 로고    scopus 로고
    • Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression
    • Virtanen M, Gedde-Dahl T, Mork NJ et al. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. Acta Derm Venereol 2001; 81: 16370.
    • (2001) Acta Derm Venereol , vol.81 , pp. 16370
    • Virtanen, M.1    Gedde-Dahl, T.2    Mork, N.J.3
  • 6
    • 0033913979 scopus 로고    scopus 로고
    • Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5
    • Whittock NV, Eady RA, McGrath JA. Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Biochem Biophys Res Commun 2000; 274: 149-52.
    • (2000) Biochem Biophys Res Commun , vol.274 , pp. 149-152
    • Whittock, N.V.1    Eady, R.A.2    McGrath, J.A.3
  • 7
    • 0037275640 scopus 로고    scopus 로고
    • Keratins: A structural scaffold with emerging functions
    • Kirfel J, Magin TM, Reichelt J. Keratins: a structural scaffold with emerging functions. Cell Mol Life Sci 2003; 60: 56-71.
    • (2003) Cell Mol Life Sci , vol.60 , pp. 56-71
    • Kirfel, J.1    Magin, T.M.2    Reichelt, J.3
  • 8
    • 0037407006 scopus 로고    scopus 로고
    • Phenotypes, genotypes and their contribution to understanding keratin function
    • Porter RM, Lane EB. Phenotypes, genotypes and their contribution to understanding keratin function. Trends Genet 2003; 19: 278-85.
    • (2003) Trends Genet , vol.19 , pp. 278-285
    • Porter, R.M.1    Lane, E.B.2
  • 9
    • 0035046697 scopus 로고    scopus 로고
    • Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds
    • Hatsell S, Eady RA, Wennerstrand L et al. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol 2001; 116: 606-9.
    • (2001) J Invest Dermatol , vol.116 , pp. 606-609
    • Hatsell, S.1    Eady, R.A.2    Wennerstrand, L.3
  • 10
    • 0036430001 scopus 로고    scopus 로고
    • Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1
    • Terron-Kwiatkowski A, Paller AS, Compton J et al. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol 2002; 119: 966-71.
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  • 11
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    • Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: Unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis
    • Virtanen M, Smith SK, Gedde-Dahl T et al. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. J Invest Dermatol 2003; 121: 1013-20.
    • (2003) J Invest Dermatol , vol.121 , pp. 1013-1020
    • Virtanen, M.1    Smith, S.K.2    Gedde-Dahl, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.