Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum.
Kezic
Sanja
S
Kemperman
Patrick M J H
PM
Koster
Ellen S
ES
de Jongh
Cindy M
CM
Thio
Hok Bing
HB
Campbell
Linda E
LE
Irvine
Alan D
AD
McLean
W H Irwin
WH
McLean
Irwin W H
IW
Puppels
Gerwin J
GJ
Caspers
Peter J
PJ
D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D003876:Dermatitis, Atopic / Q000150:complications / Q000378:metabolism; D004817:Epidermis / Q000378:metabolism*; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D014870:Water Loss, Insensible / Q000235:genetics*
D015415:Biomarkers; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins