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Volumn 30, Issue 4, 2005, Pages 429-431

Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients

Author keywords

[No Author keywords available]

Indexed keywords

INVOLUCRIN; LORICRIN; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

EID: 20644442238     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01818.x     Document Type: Article
Times cited : (8)

References (10)
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    • (2003) Clin Exp Dermatol , vol.28 , pp. 235-240
    • Akiyama, M.1    Sawamura, D.2    Shimizu, H.3
  • 2
    • 0028947560 scopus 로고
    • Mutations of keratinocyte transglutaminase in lamellar ichthyosis
    • Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525-8.
    • (1995) Science , vol.267 , pp. 525-528
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3
  • 3
    • 0028817683 scopus 로고
    • Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
    • Russell LJ, DiGiovanna JJ, Rogers GR et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genet 1995; 9: 279-83.
    • (1995) Nature Genet , vol.9 , pp. 279-283
    • Russell, L.J.1    DiGiovanna, J.J.2    Rogers, G.R.3
  • 4
    • 0030869688 scopus 로고    scopus 로고
    • Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
    • Laiho E, Ignatius J, Mikkola H et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997; 61: 529-38.
    • (1997) Am J Hum Genet , vol.61 , pp. 529-538
    • Laiho, E.1    Ignatius, J.2    Mikkola, H.3
  • 5
    • 0035113750 scopus 로고    scopus 로고
    • Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
    • Akiyama M, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401-7.
    • (2001) Br J Dermatol , vol.144 , pp. 401-407
    • Akiyama, M.1    Takizawa, Y.2    Kokaji, T.3    Shimizu, H.4
  • 6
    • 0042172877 scopus 로고    scopus 로고
    • Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
    • Becker K, Csikos M, Sardy M et al. Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. Exp Dermatol 2003; 12: 324-9.
    • (2003) Exp Dermatol , vol.12 , pp. 324-329
    • Becker, K.1    Csikos, M.2    Sardy, M.3
  • 7
    • 18244388249 scopus 로고    scopus 로고
    • Lipoxygenase-3 (ALOXE3) and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
    • Jobard F, Lefèvre C, Karaduman A et al. Lipoxygenase-3 (ALOXE3) and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11: 107-13.
    • (2002) Hum Mol Genet , vol.11 , pp. 107-113
    • Jobard, F.1    Lefèvre, C.2    Karaduman, A.3
  • 8
    • 0030751058 scopus 로고    scopus 로고
    • Collodion Baby. Ultrastructure and distribution of cornified cell envelope proteins and keratins
    • Akiyama M, Shimizu H, Yoneda K, Nishikawa T. Collodion Baby. Ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 1997; 195: 164-8.
    • (1997) Dermatology , vol.195 , pp. 164-168
    • Akiyama, M.1    Shimizu, H.2    Yoneda, K.3    Nishikawa, T.4
  • 9
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    • In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - A comparative study
    • Hohl D, Aeschlimann D, Huber M. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - a comparative study. J Invest Dermatol 1998; 110: 268-71.
    • (1998) J Invest Dermatol , vol.110 , pp. 268-271
    • Hohl, D.1    Aeschlimann, D.2    Huber, M.3
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    • Expression of transglutaminase activity in developing human epidermis
    • Akiyama M, Smith LT, Shimizu H. Expression of transglutaminase activity in developing human epidermis. Br J Dermatol 2000; 142: 223-5.
    • (2000) Br J Dermatol , vol.142 , pp. 223-225
    • Akiyama, M.1    Smith, L.T.2    Shimizu, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.