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Volumn 32, Issue 5, 2007, Pages 564-567

SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome

Author keywords

[No Author keywords available]

Indexed keywords

KAZAL TYPE RELATED INHIBITOR PROTEIN; SERINE PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

EID: 34547750375     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2007.02438.x     Document Type: Article
Times cited : (6)

References (10)
  • 1
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    • Ichthyosis linearis circumflexa
    • Comel M. Ichthyosis linearis circumflexa. Dermatologica 1949 98 : 133 6.
    • (1949) Dermatologica , vol.98 , pp. 133-6
    • Comel, M.1
  • 2
    • 70449210905 scopus 로고
    • A unique case of trichorrhexis invaginata
    • Netherton EW. A unique case of trichorrhexis invaginata. Arch Dermatol 1958 78 : 483 7.
    • (1958) Arch Dermatol , vol.78 , pp. 483-7
    • Netherton, E.W.1
  • 4
    • 0036174691 scopus 로고    scopus 로고
    • Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families
    • Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002 118 : 352 61.
    • (2002) J Invest Dermatol , vol.118 , pp. 352-61
    • Bitoun, E.1    Chavanas, S.2    Irvine, A.D.3
  • 5
    • 0034120666 scopus 로고    scopus 로고
    • Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
    • Chavanas S, Bodemer C, Rochat A et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000 25 : 141 2.
    • (2000) Nat Genet , vol.25 , pp. 141-2
    • Chavanas, S.1    Bodemer, C.2    Rochat, A.3
  • 6
    • 0033911533 scopus 로고    scopus 로고
    • Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
    • Chavanas S, Garner C, Bodemer C et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000 66 : 914 21.
    • (2000) Am J Hum Genet , vol.66 , pp. 914-21
    • Chavanas, S.1    Garner, C.2    Bodemer, C.3
  • 7
    • 0035723116 scopus 로고    scopus 로고
    • The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis
    • Sprecher E, Chavanas S, DiGiovanna JJ et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001 117 : 179 87.
    • (2001) J Invest Dermatol , vol.117 , pp. 179-87
    • Sprecher, E.1    Chavanas, S.2    Digiovanna, J.J.3
  • 8
    • 0034785609 scopus 로고    scopus 로고
    • Gene polymorphism in Netherton and common atopic disease
    • Walley AJ, Chavanas S, Moffatt MF et al. Gene polymorphism in Netherton and common atopic disease. Nat Genet 2001 29 : 175 8.
    • (2001) Nat Genet , vol.29 , pp. 175-8
    • Walley, A.J.1    Chavanas, S.2    Moffatt, M.F.3
  • 9
    • 10744224015 scopus 로고    scopus 로고
    • LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
    • Bitoun E, Micheloni A, Lamant L et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 2003 12 : 2417 30.
    • (2003) Hum Mol Genet , vol.12 , pp. 2417-30
    • Bitoun, E.1    Micheloni, A.2    Lamant, L.3
  • 10
    • 4143130046 scopus 로고    scopus 로고
    • SPINK5 and Netherton syndrome: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
    • Raghunath M, Tontsidou L, Oji V et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol 2004 123 : 474 83.
    • (2004) J Invest Dermatol , vol.123 , pp. 474-83
    • Raghunath, M.1    Tontsidou, L.2    Oji, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.