메뉴 건너뛰기




Volumn 119, Issue 2, 2007, Pages 434-440

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

Author keywords

atopy; eczema; Filaggrin; genetics; genodermatosis; ichthyosis; keratinization; mutation; skin; skin barrier

Indexed keywords

FILAGGRIN; KERATOHYALIN;

EID: 33846820433     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2006.12.646     Document Type: Article
Times cited : (203)

References (23)
  • 1
    • 0021987007 scopus 로고
    • Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules
    • Sybert V.P., Dale B.A., and Holbrook K.A. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 84 (1985) 191-194
    • (1985) J Invest Dermatol , vol.84 , pp. 191-194
    • Sybert, V.P.1    Dale, B.A.2    Holbrook, K.A.3
  • 2
    • 0021824115 scopus 로고
    • The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients
    • Mevorah B., Marazzi A., and Frenk E. The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients. Br J Dermatol 112 (1985) 679-685
    • (1985) Br J Dermatol , vol.112 , pp. 679-685
    • Mevorah, B.1    Marazzi, A.2    Frenk, E.3
  • 4
    • 0035072326 scopus 로고    scopus 로고
    • Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci
    • Cookson W.O., Ubhi B., Lawrence R., Abecasis G.R., Walley A.J., Cox H.E., et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat Genet 27 (2001) 372-373
    • (2001) Nat Genet , vol.27 , pp. 372-373
    • Cookson, W.O.1    Ubhi, B.2    Lawrence, R.3    Abecasis, G.R.4    Walley, A.J.5    Cox, H.E.6
  • 5
    • 17144371855 scopus 로고    scopus 로고
    • The cornified envelope: a model of cell death in the skin
    • Candi E., Schmidt R., and Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6 (2005) 328-340
    • (2005) Nat Rev Mol Cell Biol , vol.6 , pp. 328-340
    • Candi, E.1    Schmidt, R.2    Melino, G.3
  • 6
    • 0027362808 scopus 로고
    • Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21
    • Volz A., Korge B.P., Compton J.G., Ziegler A., Steinert P.M., and Mischke D. Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21. Genomics 18 (1993) 92-99
    • (1993) Genomics , vol.18 , pp. 92-99
    • Volz, A.1    Korge, B.P.2    Compton, J.G.3    Ziegler, A.4    Steinert, P.M.5    Mischke, D.6
  • 9
  • 10
    • 1342325502 scopus 로고    scopus 로고
    • Moisturization and skin barrier function
    • Rawlings A.V., and Harding C.R. Moisturization and skin barrier function. Dermatol Ther 17 suppl 1 (2004) 43-48
    • (2004) Dermatol Ther , vol.17 , Issue.SUPPL. 1 , pp. 43-48
    • Rawlings, A.V.1    Harding, C.R.2
  • 12
    • 33645399288 scopus 로고    scopus 로고
    • Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
    • Palmer C.N.A., Irvine A.D., Terron-Kwiatkowski A., Zhao Y., Liao H., Lee S.P., et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38 (2006) 441-446
    • (2006) Nat Genet , vol.38 , pp. 441-446
    • Palmer, C.N.A.1    Irvine, A.D.2    Terron-Kwiatkowski, A.3    Zhao, Y.4    Liao, H.5    Lee, S.P.6
  • 13
    • 33745524911 scopus 로고    scopus 로고
    • Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis
    • Irvine A.D., and McLean W.H.I. Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 126 (2006) 1200-1202
    • (2006) J Invest Dermatol , vol.126 , pp. 1200-1202
    • Irvine, A.D.1    McLean, W.H.I.2
  • 14
    • 33847029992 scopus 로고    scopus 로고
    • Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood
    • Sep 21 [Epub ahead of print]
    • Barker J.N., Palmer C.N., Zhao Y., Liao H., Hull P.R., Lee S.P., et al. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol (2006) Sep 21 [Epub ahead of print]
    • (2006) J Invest Dermatol
    • Barker, J.N.1    Palmer, C.N.2    Zhao, Y.3    Liao, H.4    Hull, P.R.5    Lee, S.P.6
  • 15
    • 33745353511 scopus 로고    scopus 로고
    • Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
    • Weidinger S., Illig T., Baurecht H., Irvine A.D., Rodriguez E., Diaz-Lacava A., et al. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 118 (2006) 214-219
    • (2006) J Allergy Clin Immunol , vol.118 , pp. 214-219
    • Weidinger, S.1    Illig, T.2    Baurecht, H.3    Irvine, A.D.4    Rodriguez, E.5    Diaz-Lacava, A.6
  • 16
    • 33746129175 scopus 로고    scopus 로고
    • Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis
    • Sandilands A., O'Regan G.M., Liao H., Zhao Y., Terron-Kwiatkowski A., Watson R.M., et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 126 (2006) 1770-1775
    • (2006) J Invest Dermatol , vol.126 , pp. 1770-1775
    • Sandilands, A.1    O'Regan, G.M.2    Liao, H.3    Zhao, Y.4    Terron-Kwiatkowski, A.5    Watson, R.M.6
  • 17
    • 33749862108 scopus 로고    scopus 로고
    • Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany
    • Ruether A., Stoll M., Schwarz T., Schreiber S., and Folster-Holst R. Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany. Br J Dermatol 155 (2006) 1093-1094
    • (2006) Br J Dermatol , vol.155 , pp. 1093-1094
    • Ruether, A.1    Stoll, M.2    Schwarz, T.3    Schreiber, S.4    Folster-Holst, R.5
  • 19
    • 33847068830 scopus 로고    scopus 로고
    • Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis
    • Sep 28 [Epub ahead of print]
    • Stemmler S., Parwez Q., Petrasch-Parwez E., Epplen J.T., and Hoffjan S. Two common loss-of-function mutations within the filaggrin gene predispose for early onset of atopic dermatitis. J Invest Dermatol (2006) Sep 28 [Epub ahead of print]
    • (2006) J Invest Dermatol
    • Stemmler, S.1    Parwez, Q.2    Petrasch-Parwez, E.3    Epplen, J.T.4    Hoffjan, S.5
  • 20
    • 33846824689 scopus 로고    scopus 로고
    • Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis
    • Nov 9 [Epub ahead of print]
    • Weidinger S., Rodriguez E., Stahl C., Wagenpfeil S., Klopp N., Illig T., et al. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J Invest Dermatol (2006) Nov 9 [Epub ahead of print]
    • (2006) J Invest Dermatol
    • Weidinger, S.1    Rodriguez, E.2    Stahl, C.3    Wagenpfeil, S.4    Klopp, N.5    Illig, T.6
  • 21
    • 0001779228 scopus 로고
    • Diagnostic features of atopic dermatitis
    • Hannifin J.M., and Rajka G. Diagnostic features of atopic dermatitis. Acta Derm Venereol 92 (1980) 44-47
    • (1980) Acta Derm Venereol , vol.92 , pp. 44-47
    • Hannifin, J.M.1    Rajka, G.2
  • 22
    • 0034523633 scopus 로고    scopus 로고
    • Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris
    • Presland R.B., Boggess D., Lewis S.P., Hull C., Fleckman P., and Sundberg J.P. Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol 115 (2000) 1072-1081
    • (2000) J Invest Dermatol , vol.115 , pp. 1072-1081
    • Presland, R.B.1    Boggess, D.2    Lewis, S.P.3    Hull, C.4    Fleckman, P.5    Sundberg, J.P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.