Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We eval...Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom? MassARRAY? system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.展开更多
The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relat...The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relationship between filaggrin and other skin diseases remains unknown. In our study we chose 5 different common skin diseases and analyzed the expression of filaggrin in the skin using immunohistochemistry. Imiquimod (IMQ)-induced mouse model was used for detecting the filaggrin level and barrier function. The results indicated that the expression of filaggrin is reduced in psoriasis compared to the other skin diseases. Furthermore in vivo study showed that the skin barrier is defected with a decreased expression of filaggrin in IMQ-induced psoriasis mouse model, which is accompanied with an increased level of IL-17/IL-23. In conclusion, the defective skin barrier is involved in the development of psoriasis in human and mice with a reduced expression of filaggrin which may be regulated by the increased level of IL-17/IL-23 in the skin.展开更多
Objective:Filaggrin(FLG)is a protein expressed in the epidermis and involved in the maintenance of the epidermal barrier.However,the expression and localization of FLG in the upper airway remain controversial.The pres...Objective:Filaggrin(FLG)is a protein expressed in the epidermis and involved in the maintenance of the epidermal barrier.However,the expression and localization of FLG in the upper airway remain controversial.The present study aimed to determine the significance of FLG and the effect of S100A7 on FLG expression in the upper respiratory mucosa.Methods:Human nasal epithelial cells(HNECs)were cultured and examined for FLG expression and S100A7 effects by real-time polymerase chain reaction and Western blotting.The localization and distribution of FLG were assessed using sinonasal mucosa.Results:A significant expression of FLG was detected at the mRNA and protein levels in HNECs.A moderate FLG immunoreactivity was observed in the epithelial cells,but no staining was seen in epithelial goblet cells.S100A7 increased the FLG mRNA level in HNECs in a dose-dependent manner and also up-regulated the FLG protein in a dose-dependent manner.Conclusion:This study significantly contributes to a better understanding of the role of FLG in the pathogenesis of airway inflammation from the viewpoint of the epithelial barrier function.FLG-related events in response to S100A7 protein may represent novel therapeutic targets for the treatment of upper airway inflammation.展开更多
文摘Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom? MassARRAY? system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.
文摘The epidermis represents an essential barrier versus a broad range of exogenous stimuli. To form a functional epidermis, keratinocytes express filaggrin which plays a vital role in atopic dermatitis. However the relationship between filaggrin and other skin diseases remains unknown. In our study we chose 5 different common skin diseases and analyzed the expression of filaggrin in the skin using immunohistochemistry. Imiquimod (IMQ)-induced mouse model was used for detecting the filaggrin level and barrier function. The results indicated that the expression of filaggrin is reduced in psoriasis compared to the other skin diseases. Furthermore in vivo study showed that the skin barrier is defected with a decreased expression of filaggrin in IMQ-induced psoriasis mouse model, which is accompanied with an increased level of IL-17/IL-23. In conclusion, the defective skin barrier is involved in the development of psoriasis in human and mice with a reduced expression of filaggrin which may be regulated by the increased level of IL-17/IL-23 in the skin.
文摘Objective:Filaggrin(FLG)is a protein expressed in the epidermis and involved in the maintenance of the epidermal barrier.However,the expression and localization of FLG in the upper airway remain controversial.The present study aimed to determine the significance of FLG and the effect of S100A7 on FLG expression in the upper respiratory mucosa.Methods:Human nasal epithelial cells(HNECs)were cultured and examined for FLG expression and S100A7 effects by real-time polymerase chain reaction and Western blotting.The localization and distribution of FLG were assessed using sinonasal mucosa.Results:A significant expression of FLG was detected at the mRNA and protein levels in HNECs.A moderate FLG immunoreactivity was observed in the epithelial cells,but no staining was seen in epithelial goblet cells.S100A7 increased the FLG mRNA level in HNECs in a dose-dependent manner and also up-regulated the FLG protein in a dose-dependent manner.Conclusion:This study significantly contributes to a better understanding of the role of FLG in the pathogenesis of airway inflammation from the viewpoint of the epithelial barrier function.FLG-related events in response to S100A7 protein may represent novel therapeutic targets for the treatment of upper airway inflammation.
