메뉴 건너뛰기




Volumn 131, Issue 8, 2011, Pages 1644-1649

Association screening in the epidermal differentiation complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE CONTROL STUDY; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; ECZEMA; GENE DELETION; GENE FREQUENCY; GENE REPLICATION; HUMAN; KERATINOCYTE; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SQUAMOUS EPITHELIUM;

EID: 79960337722     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.90     Document Type: Article
Times cited : (67)

References (30)
  • 1
    • 33847029992 scopus 로고    scopus 로고
    • Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood
    • Barker JN, Palmer CN, Zhao Y et al. (2007) Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 127:564-7
    • (2007) J Invest Dermatol , vol.127 , pp. 564-567
    • Barker, J.N.1    Palmer, C.N.2    Zhao, Y.3
  • 2
    • 78649783848 scopus 로고    scopus 로고
    • Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-e QTL signals
    • Ding J, Gudjonsson JE, Liang L et al. (2010) Gene expression in skin and lymphoblastoid cells: refined statistical method reveals extensive overlap in cis-e QTL signals. Am J Hum Genet 87:779-89
    • (2010) Am J Hum Genet , vol.87 , pp. 779-789
    • Ding, J.1    Gudjonsson, J.E.2    Liang, L.3
  • 3
    • 67349252610 scopus 로고    scopus 로고
    • A common variant on chromosome 11q13 is associated with atopic dermatitis
    • Esparza-Gordillo J, Weidinger S, Folster-Holst R et al. (2009) A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet41:596-601
    • (2009) Nat Genet , vol.41 , pp. 596-601
    • Esparza-Gordillo, J.1    Weidinger, S.2    Folster-Holst, R.3
  • 4
    • 0005065215 scopus 로고    scopus 로고
    • Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETAC Early Treatment of the Atopic Child
    • ETAC Study Group
    • ETAC Study Group (1998) Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: first results of ETAC. Early Treatment of the Atopic Child. Pediatr Allergy Immunol 9:116-24
    • (1998) Pediatr Allergy Immunol , vol.9 , pp. 116-124
  • 5
    • 0025154931 scopus 로고
    • Organization, structure, and polymorphisms of the human profilaggrin gene
    • Gan SQ, Mc Bride OW, Idler WW et al. (1990) Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 29: 9432-40 (Pubitemid 20329081)
    • (1990) Biochemistry , vol.29 , Issue.40 , pp. 9432-9440
    • Gan, S.-Q.1    McBride, O.W.2    Idler, W.W.3    Markova, N.4    Steinert, P.M.5
  • 6
    • 0027243148 scopus 로고
    • Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins
    • DOI 10.1006/geno.1993.1240
    • Gibbs S, Fijneman R, Wiegant J et al. (1993) Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Genomics 16:630-7 (Pubitemid 23183481)
    • (1993) Genomics , vol.16 , Issue.3 , pp. 630-637
    • Gibbs, S.1    Fijneman, R.2    Wiegant, J.3    Van Kessel, A.G.4    Van De Putte, P.5    Backendorf, C.6
  • 8
    • 71149092070 scopus 로고    scopus 로고
    • Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis
    • Guttman-Yassky E, Suarez-Farinas M, Chiricozzi A et al. (2009) Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. JAllergy Clin Immunol124:1235-44
    • (2009) JAllergy Clin Immunol , vol.124 , pp. 1235-1244
    • Guttman-Yassky, E.1    Suarez-Farinas, M.2    Chiricozzi, A.3
  • 9
    • 0001779228 scopus 로고
    • Diagnostic features of atopic dermatitis
    • Hanifin JM, Rajka G (1980) Diagnostic features of atopic dermatitis. Acta Derm (Stockholm) 92(Suppl):44-7
    • (1980) Acta Derm (Stockholm) , vol.92 , Issue.SUPPL. , pp. 44-47
    • Hanifin, J.M.1    Rajka, G.2
  • 10
    • 0033753242 scopus 로고    scopus 로고
    • Expression of small proline rich proteins in neoplastic and inflammatory skin diseases
    • Heller-Milev M, Huber M, Panizzon R et al. (2000) Expression of small proline rich proteins in neoplastic and inflammatory skin diseases. Br J Dermatol 143:733-40
    • (2000) Br J Dermatol , vol.143 , pp. 733-740
    • Heller-Milev, M.1    Huber, M.2    Panizzon, R.3
  • 11
    • 36849009633 scopus 로고    scopus 로고
    • Confirmation of the association between high levels of immunoglobulin E food sensitization and eczema in infancy: An international study
    • DOI 10.1111/j.1365-2222.2007.02861.x
    • Hill DJ, Hosking CS, de Benedictis FM et al. (2008) Confirmation of the association between high levels of immunoglobulin E food sensitization andeczema in infancy: an international study. Clin Exp Allergy38:161-8 (Pubitemid 350233383)
    • (2008) Clinical and Experimental Allergy , vol.38 , Issue.1 , pp. 161-168
    • Hill, D.J.1    Hosking, C.S.2    De Benedictis, F.M.3
  • 12
    • 0029020173 scopus 로고
    • The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins
    • Hohl D, de Viragh PA, Amiguet-Barras F et al. (1995) The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins. J Invest Dermatol 104: 902-9
    • (1995) J Invest Dermatol , vol.104 , pp. 902-909
    • Hohl, D.1    De Viragh, P.A.2    Amiguet-Barras, F.3
  • 15
    • 4444371768 scopus 로고    scopus 로고
    • S100 proteins in mouse and man: From evolution to function and pathology (including an update of the nomenclature)
    • DOI 10.1016/j.bbrc.2004.07.096, PII S0006291X04015475
    • Marenholz I, Heizmann CW, Fritz G (2004) S100 proteins in mouse and man: from evolution to function and pathology (including an update of the nomenclature). Biochem Biophys Res Commun 322:1111-22 (Pubitemid 39164640)
    • (2004) Biochemical and Biophysical Research Communications , vol.322 , Issue.4 , pp. 1111-1122
    • Marenholz, I.1    Heizmann, C.W.2    Fritz, G.3
  • 17
    • 0035078456 scopus 로고    scopus 로고
    • Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded Keratinocyte cDNA library
    • DOI 10.1101/gr.114801
    • Marenholz I, Zirra M, Fischer DF et al. (2001) Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte c DNA library. Genome Res 11:341-55 (Pubitemid 32243845)
    • (2001) Genome Research , vol.11 , Issue.3 , pp. 341-355
    • Marenholz, I.1    Zirra, M.2    Fischer, D.F.3    Backendorf, C.4    Ziegler, A.5    Mischke, D.6
  • 19
    • 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 et al. (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 Dermatol106:989-92
    • (1996) J Invest Dermatol , vol.106 , pp. 989-992
    • Mischke, D.1    Korge, B.P.2    Marenholz, I.3
  • 20
    • 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 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
  • 21
    • 0034533621 scopus 로고    scopus 로고
    • Epithelial structural proteins of the skin and oral cavity: Function in health and disease
    • Presland RB, Dale BA (2000) Epithelial structural proteins of the skin and oral cavity: function in health and disease. Crit Rev Oral Biol Med 11:383-408 (Pubitemid 32003253)
    • (2000) Critical Reviews in Oral Biology and Medicine , vol.11 , Issue.4 , pp. 383-408
    • Presland, R.B.1    Dale, B.A.2
  • 22
    • 12244264435 scopus 로고    scopus 로고
    • Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits
    • DOI 10.1093/bioinformatics/19.1.149
    • Purcell S, Cherny SS, Sham PC (2003) Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-50 (Pubitemid 36150192)
    • (2003) Bioinformatics , vol.19 , Issue.1 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 24
    • 0026080379 scopus 로고
    • Polymorphism due to variable number of repeats in the human involucrin gene
    • Simon M, Phillips M, Green H (1991) Polymorphism due to variable number of repeats in the human involucrin gene. Genomics 9:576-80
    • (1991) Genomics , vol.9 , pp. 576-580
    • Simon, M.1    Phillips, M.2    Green, H.3
  • 25
    • 0031664479 scopus 로고    scopus 로고
    • Small proline-rich proteins are cross-bridging proteins in the cornified cell envelopes of stratified squamous epithelia
    • DOI 10.1006/jsbi.1998.3957
    • Steinert PM, Candi E, Kartasova T et al. (1998a) Small proline-rich proteins are cross-bridging proteins in the cornified cell envelopes of stratified squamous epithelia. J Struct Biol 122:76-85 (Pubitemid 28411186)
    • (1998) Journal of Structural Biology , vol.122 , Issue.1-2 , pp. 76-85
    • Steinert, P.M.1    Candi, E.2    Kartasova, T.3    Marekov, L.4
  • 27
    • 0032496154 scopus 로고    scopus 로고
    • Biochemical evidence that small proline-rich proteins and trichohyalin function in epithelia by modulation of the biomechanical properties of their cornified cell envelopes
    • DOI 10.1074/jbc.273.19.11758
    • Steinert PM, Kartasova T, Marekov LN (1998b) Biochemical evidence that small proline-rich proteins and trichohyalin function in epithelia by modulation of the biomechanical properties of their cornified cell envelopes. J Biol Chem 273:11758-69 (Pubitemid 28272080)
    • (1998) Journal of Biological Chemistry , vol.273 , Issue.19 , pp. 11758-11769
    • Steinert, P.M.1    Kartasova, T.2    Marekov, L.N.3
  • 28
    • 13244284843 scopus 로고    scopus 로고
    • Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope
    • Sugiura H, Ebise H, Tazawa T et al. (2005) Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope. Br J Dermatol 152:146-9
    • (2005) Br J Dermatol , vol.152 , pp. 146-149
    • Sugiura, H.1    Ebise, H.2    Tazawa, T.3
  • 29
    • 33847743122 scopus 로고    scopus 로고
    • Genetics of parentally reported asthma, eczema and rhinitis in 5-yr-old twins
    • DOI 10.1183/09031936.00065706
    • van Beijsterveldt CE, Boomsma DI (2007) Genetics of parentally reported asthma, eczema and rhinitis in 5-yr-old twins. Eur Respir J 29:516-21 (Pubitemid 46372099)
    • (2007) European Respiratory Journal , vol.29 , Issue.3 , pp. 516-521
    • Van Beijsterveldt, C.E.M.1    Boomsma, D.I.2
  • 30
    • 67649171011 scopus 로고    scopus 로고
    • Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family
    • Wu Z, Hansmann B, Meyer-Hoffert U et al. (2009) Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family. PLoS One 4:e5227
    • (2009) PLoS One , vol.4
    • Wu, Z.1    Hansmann, B.2    Meyer-Hoffert, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.