Key words Filaggrin gene; gene mutation; Filaggrin; atopic dermatitis; ichthyosis vulgaris1 前言Filaggrin基因, 简称FLG基因, 主要表达于皮肤颗粒层, 其翻译表达的聚角蛋白微丝蛋白前体(Pro-filaggrin)经降解为聚角蛋白微丝蛋白(Filaggrin), 后者位于皮肤角质层, 构成皮肤的保护屏障, 发挥防御功能。若FLG基因突变...
c.3321delA MutationFilaggrin GeneGenotype-phenotype CorrelationUnlabeled Probe High Resolution Melting AnalysisINTRODUCTION Atopic dermatitis (AD) is a common chronic inflammatory skin disorder that is characterized by dry skin and disturbed skin barrier functions.Mutations in the filaggrin (FLG) gene,the ...
别名 filaggrin , ATOD2 功能与背景 The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa...
Referred to by Corrigendum: Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum Journal of Investigative Dermatology, Volume 128, Issue 6, June 2008, Pages 1604 View PDFPrevious...
#skin gene# filaggrin-皮肤屏障最早认识到filaggrin(丝聚蛋白,flg)与皮肤屏障关系是源于特应性皮炎(ad)-这一经典皮肤屏障功能障碍疾病的研究。flg变异有人群差异,北欧人群中携带者有10%,在亚洲人群中大概为3-6%,非洲人群中低于1%。flg如何影响皮肤屏障?作为角化包膜的组成成分和微丝聚集蛋白,它对于角质层结构和机械...
Filaggrin Gene Mutations Mediate Severity of Alopecia Areata When Associated with Atopic Dermatitiscongenital porphyriaerythropoietic protoporphyriaeyeporphyria cutanea tardaporphyriaThe Journal of Investigative Dermatology publishes basic and clinical research in cutaneous biology and skin disease....
Filaggrin is a recognized marker of terminal differentiation of squamous epithelium, and loss-of-function mutations in the filaggrin gene ( FLG ) reduce the levels of filaggrin and its metabolites. Here, we review the relationship between filaggrin molecules, HPV infection, CIN, and cervical cancer...
Recent studies have identified 2 loss-of-function variants, R501X and 2282de14, in the filaggrin gene as pre-disposing factors in the development of eczema. tn this study, representing the first analysis of the variants in a Swedish population, we analysed transmission in 406 multiplex eczema ...
Entrez Gene ID:(Human) 388698 功能 structural molecule activitycalcium ion bindingcytoskeletal protein 参与通路 establishment of skin barrier Cookie设置 我们及我们的关联方等通过运用Cookie等技术来为您提供您感兴趣的网站定制内容、识别访问者、保障安全登录和收集数据。点击“全部接受”以接受所有 cookie 并直接跳...
Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum AD, atopic dermatitis; FLG, human filaggrin-encoding gene; NMF, natural moisturizing factor; SC, stratum corneum S Kezic,PMJH Kemperman,ES Koster,... - 《Journal of Inv...