메뉴 건너뛰기




Volumn 126, Issue 6, 2006, Pages 1202-1204

Epidermal differentiation complex yields a secret: Mutations in the cornification protein filaggrin underlie ichthyosis vulgaris

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; KERATIN; INTERMEDIATE FILAMENT PROTEIN;

EID: 33745518413     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700367     Document Type: Note
Times cited : (27)

References (11)
  • 1
    • 0041888517 scopus 로고    scopus 로고
    • Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1
    • Compton JG, DiGiovanna JJ, Johnston KA, Fleckman P, Bale SJ (2002) Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp Dermatol 11:518-26
    • (2002) Exp Dermatol , vol.11 , pp. 518-526
    • Compton, J.G.1    DiGiovanna, J.J.2    Johnston, K.A.3    Fleckman, P.4    Bale, S.J.5
  • 2
    • 18244401894 scopus 로고    scopus 로고
    • Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex
    • Huber M, Siegenthaler G, Mirancea N, Marenholz I, Nizetic D, Breitkreutz D et al. (2005) Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. J Invest Dermatol 124:998-1007
    • (2005) J Invest Dermatol , vol.124 , pp. 998-1007
    • Huber, M.1    Siegenthaler, G.2    Mirancea, N.3    Marenholz, I.4    Nizetic, D.5    Breitkreutz, D.6
  • 3
    • 33745524911 scopus 로고    scopus 로고
    • Breaking the (un)sound barrier: Filaggrin is a major gene for atopic dermatitis
    • Irvine AD, Irwin McLean WH (2006) Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol 126:1200-1
    • (2006) J Invest Dermatol , vol.126 , pp. 1200-1201
    • Irvine, A.D.1    Irwin McLean, W.H.2
  • 4
    • 0034675890 scopus 로고    scopus 로고
    • Lessons from loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein
    • Koch PJ, de Viragh PA, Scharer E, Bundman D, Longley MA, Bickenbach J et al. (2000) Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 151:389-400
    • (2000) J Cell Biol , vol.151 , pp. 389-400
    • Koch, P.J.1    De Viragh, P.A.2    Scharer, E.3    Bundman, D.4    Longley, M.A.5    Bickenbach, J.6
  • 5
    • 0029932799 scopus 로고    scopus 로고
    • Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21
    • Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A (1996) Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol 106:989-92
    • (1996) J Invest Dermatol , vol.106 , pp. 989-992
    • Mischke, D.1    Korge, B.P.2    Marenholz, I.3    Volz, A.4    Ziegler, A.5
  • 6
    • 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 CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP et al. (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38:441-6
    • (2006) Nat Genet , vol.38 , pp. 441-446
    • Palmer, C.N.1    Irvine, A.D.2    Terron-Kwiatkowski, A.3    Zhao, Y.4    Liao, H.5    Lee, S.P.6
  • 7
    • 0036380857 scopus 로고    scopus 로고
    • Functional analysis of the profilaggrin N-terminal peptide: Identification of domains that regulate nuclear and cytoplasmic distribution
    • Pearton DJ, Dale BA, Presland RB (2002) Functional analysis of the profilaggrin N-terminal peptide: identification of domains that regulate nuclear and cytoplasmic distribution. J Invest Dermatol 119:661-9
    • (2002) J Invest Dermatol , vol.119 , pp. 661-669
    • Pearton, D.J.1    Dale, B.A.2    Presland, R.B.3
  • 8
    • 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 RB, Boggess D, Lewis SP, Hull C, Fleckman P, Sundberg JP (2000) 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 115:1072-81
    • (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
  • 10
    • 0021987007 scopus 로고
    • Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules
    • Sybert VP, Dale BA, Holbrook KA (1985) Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 84:191-4
    • (1985) J Invest Dermatol , vol.84 , pp. 191-194
    • Sybert, V.P.1    Dale, B.A.2    Holbrook, K.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.