Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum

Journal of Investigative Dermatology

Volumn 128, Issue 8, 2008, Pages 2117-2119

  Kezic, Sanja ^a   Kemperman, Patrick M J H ^b   Koster, Ellen S ^a   De Jongh, Cindy M ^a   Thio, Hok Bing ^b   Campbell, Linda E ^c   Irvine, Alan D ^d,e   McLean, Irwin W H ^c   Puppels, Gerwin J ^b,f   Caspers, Peter J ^b,f  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^e TRINITY COLLEGE DUBLIN   (Ireland)

^f River Diagnostics B V   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN;

ATOPIC DERMATITIS; DNA POLYMORPHISM; FILAGGRIN GENE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMIDITY; ICHTHYOSIS VULGARIS; LETTER; PRIORITY JOURNAL; SCCE GENE; SENSITIVITY AND SPECIFICITY; SKIN WATER LOSS; SPINK5 GENE; STRATUM CORNEUM; WILD TYPE;

EID: 46649119445     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.29     Document Type: Letter

References (9)

1. Caspers PJ, Lucassen GW, Carter EA, Bruining HA, Puppels GJ (2001) In vivo confocal Raman microspectroscopy of the skin: noninvasive determination of molecular concentration profiles. J Invest Dermatol 116:434-42
2. Caspers PJ, Lucassen GW, Puppels GJ (2003) Combined in vivo confocal Raman spectroscopy and confocal microscopy of human skin. Biophys J 85:572-80
3. Howell MD, Kim BE, Gao P, Grant AV, Boguniewicz M, Debenedetto A et al. (2007) Cytokine modulation of atopic dermatitis filaggrin skin expression. J Allergy Clin Immunol 120:150-5
4. Rawlings AV, Matts PJ (2005) Stratum corneum moisturization at the molecular level: an update in relation to dry skin cycle. J Invest Dermatol 124:1099-110
5. Sandilands A, O'Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM et al. (2006) Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 126:1770-5
6. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM et al. (2007) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 39:650-4
7. Seguchi T, Cui CY, Kusuda S, Takahashi M, Aisu K, Tezuka T (1996) Decreased expression of filaggrin in atopic skin. Arch Dermatol Res 288:442-6
8. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y et al. (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337-42
9. Sugiura H, Ebise H, Tazawa T, Tanaka K, Sugiura Y, Uehara M 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