Filaggrin and its role in the pathomechanism of allergic disease;Filagryna i jej rola w patomechanizmie chorób alergicznych

Alergia Astma Immunologia

Volumn 14, Issue 2, 2009, Pages 95-100

  Kurowski, Marcin ^a   Kowalski, Marek L ^a  

^a MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

Asthma; Atopic dermatitis; Filaggrin; Gene mutation

Indexed keywords

FILAGGRIN;

ALLERGIC DISEASE; ASTHMA; ATOPIC DERMATITIS; DISEASE PREDISPOSITION; GENE MUTATION; HUMAN; ICHTHYOSIS VULGARIS; PATHOGENESIS; REVIEW; SKIN DISEASE;

EID: 82055175096     PISSN: 14273101     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (20)

1. McGrath JA, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends in Molecular Medicine 2008; 14:20-7.
2. Jabłońska S. Choroby skóry. Warszawa: PZWL; 1973.
3. Jabłońska S, Chorzelski T. Choroby skóry dla studentów medycy-ny i lekarzy. Warszawa: PZWL; 1992.
4. Candi E, Schmidt R, Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005; 6:328-40.
5. Gan S, McBride O. Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 1990; 29:9432-40.
6. Markova N, Marekov L, Chipev C, Gan S, Idler W, Steinert P. Profilaggrin is a major calcium-binding protein. Mol Cell Biol 1993; 13:613-25.
7. Denecker G, Hoste E, Gilbert B, Hochepied T, Ovaere P, Lippens S, et al. Caspase-14 protects against epidermal UVB photodamage and water loss. Nature Cell Biology 2007; 9:666.
8. Nicotera P, Melino G. Caspase-14 and epidermis maturation. Nature Cell Biology 2007; 9:621.
9. Presland RB, Haydock PV, Fleckman P, Nirunsuksiri W, Dale BA. Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. J Biol Chem. 1992; 267:23772-81.
10. South AP, Cabral A, Ives JH, James CH, Mirza G, Marenholz I, et al. Human Epidermal Differentiation Complex in a Single 2.5 Mbp Long Continuum of Overlapping DNA Cloned in Bacteria Integrating Physical and Transcript Maps. J Invest Dermatol 1999; 112:910-8.
11. Smith FJD, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337-42.
12. Fleckman P, Brumbaugh S. Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. Experimental Dermatology 2002; 11:327-36.
13. Palmer CNA, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38:441-6.
14. Baurecht H, Irvine A, Novak N, Illig T, Buehler B, Ring J, et al. Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol 2007; 120: 1406-12.
15. Morar N, Cookson WOCM, Harper JI, Moffatt MF. Filaggrin Mutations in Children with Severe Atopic Dermatitis. J Invest Dermatol 2007; 127:1667-72.
16. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39: 650-4.
17. Henderson J, Northstone K, Lee S, Liao H, Zhao Y, Pembrey M, et al. The burden of disease associated with filaggrin mutations: A population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008; 121:872-7.
18. Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, et al. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008; 121:1203-9.
19. Rodriguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown S, Cordell H, et al. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol 2009; 123:1361-70.
20. Muller S, Marenholz I, Lee Y, Sengler C, Zitnik S, Griffioen R, et al. Association of filaggrin loss-of-function mutations with atopic dermatitis and asthma in the Early Treatment of the Atopic Child (ETAC) population. Pediatr Allergy Immunol 2009; 20:358-61.