메뉴 건너뛰기




Volumn 4, Issue 6, 2009, Pages

Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5377 children from the ALSPAC cohort

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; INTERMEDIATE FILAMENT PROTEIN;

EID: 66749158517     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005784     Document Type: Article
Times cited : (6)

References (14)
  • 1
    • 38049121166 scopus 로고    scopus 로고
    • The filaggrin story: Novel insights into skin-barrier function and disease
    • McGrath JA, Uitto J (2008) The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med 14: 20-27.
    • (2008) Trends Mol Med , vol.14 , pp. 20-27
    • McGrath, J.A.1    Uitto, J.2
  • 2
    • 42149098879 scopus 로고    scopus 로고
    • Filaggrin and the great epidermal barrier grief
    • McGrath JA (2008) Filaggrin and the great epidermal barrier grief. Australas J Dermatol 49: 67-73.
    • (2008) Australas J Dermatol , vol.49 , pp. 67-73
    • McGrath, J.A.1
  • 3
    • 0343733883 scopus 로고
    • Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21
    • Kinley-Grant LJ, Idler WW, Bernstein IA, Parry DA, Cannizzaro L, et al. (1989) Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. Proc Natl Acad Sci U S A 86: 4848-4852.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 4848-4852
    • Kinley-Grant, L.J.1    Idler, W.W.2    Bernstein, I.A.3    Parry, D.A.4    Cannizzaro, L.5
  • 4
    • 41449089071 scopus 로고    scopus 로고
    • The burden of disease associated with filaggrin mutations: A population-based, longitudinal birth cohort study
    • Henderson J, Northstone K, Lee SP, Liao H, Zhao Y, et al. (2008) The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 121: 872-877.
    • (2008) J Allergy Clin Immunol , vol.121 , pp. 872-877
    • Henderson, J.1    Northstone, K.2    Lee, S.P.3    Liao, H.4    Zhao, Y.5
  • 5
    • 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, 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: 441-446.
    • (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
  • 6
    • 34247578168 scopus 로고    scopus 로고
    • Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
    • Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, et al. (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 39: 650-654.
    • (2007) Nat Genet , vol.39 , pp. 650-654
    • Sandilands, A.1    Terron-Kwiatkowski, A.2    Hull, P.R.3    O'Regan, G.M.4    Clayton, T.H.5
  • 8
    • 34547895876 scopus 로고    scopus 로고
    • On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis
    • Hoffjan S, Stemmler S (2007) On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Br J Dermatol 157: 441-449.
    • (2007) Br J Dermatol , vol.157 , pp. 441-449
    • Hoffjan, S.1    Stemmler, S.2
  • 10
    • 0029197018 scopus 로고
    • The tympanic membrane: A biochemical updating of structural components
    • Broekaert D (1995) The tympanic membrane: a biochemical updating of structural components. Acta Otorhinolaryngol Belg 49: 127-137.
    • (1995) Acta Otorhinolaryngol Belg , vol.49 , pp. 127-137
    • Broekaert, D.1
  • 11
    • 0024500314 scopus 로고
    • Localization of filaggrin in human middle ear cholesteatoma
    • Chao WY, Huang CC (1989) Localization of filaggrin in human middle ear cholesteatoma. Acta Otolaryngol 107: 249-253.
    • (1989) Acta Otolaryngol , vol.107 , pp. 249-253
    • Chao, W.Y.1    Huang, C.C.2
  • 12
    • 0029002256 scopus 로고
    • Alteration of epidermal differentiation in middle ear cholesteatoma
    • Stammberger M, Bujia J, Kastenbauer E (1995) Alteration of epidermal differentiation in middle ear cholesteatoma. Am J Otol 16: 527-531.
    • (1995) Am J Otol , vol.16 , pp. 527-531
    • Stammberger, M.1    Bujia, J.2    Kastenbauer, E.3
  • 13
    • 0033812249 scopus 로고    scopus 로고
    • A new human genetic resource: A DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC)
    • Jones RW, Ring S, Tyfield L, Hamvas R, Simmons H, et al. (2000) A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC). Eur J Hum Genet 8: 653-660.
    • (2000) Eur J Hum Genet , vol.8 , pp. 653-660
    • Jones, R.W.1    Ring, S.2    Tyfield, L.3    Hamvas, R.4    Simmons, H.5
  • 14
    • 0035130957 scopus 로고    scopus 로고
    • ALSPAC-the Avon Longitudinal Study of Parents and Children. I. Study methodology
    • Golding J, Pembrey M, Jones R (2001) ALSPAC-the Avon Longitudinal Study of Parents and Children. I. Study methodology. Paediatr Perinat Epidemiol 15: 74-87.
    • (2001) Paediatr Perinat Epidemiol , vol.15 , pp. 74-87
    • Golding, J.1    Pembrey, M.2    Jones, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.