Search Results for flg

... consists mainly of keratin filaments aggregated by filaggrin (FLG) protein. Next, together with several other proteins, FLG is cross-linked into a mechanically robust cornified cell envelope providing a scaffold for the extracellular lipid matrix. In addition to its role for the SC structural...

... defense from environmental assaults and incorporates physical, chemical and biological protection. Skin barrier disturbance plays a crucial role in various skin diseases such as atopic dermatitis (AD), ichthyosis, ICD and ACD. Genetic factors, such as filaggrin gene (FLG) mutations, and external factors...

... and other inflammatory cells; there is also evidenceof skin barrier defect and angiogenesis. Recent identification of mutations of the epidermalbarrier protein filaggrin (encoded by FLG), present in about 9% of people of Europeanorigin, with 70% of individuals homozygous or compound heterozygous for FLG...

... keratohyalin granules or at the periphery of filaggrin (FLG)-enriched keratohyalin granules [ 81 - 83 ]. Late in epidermal differentiation, loricrin migrates to the cell periphery, where it is deposited beneath involucrin residues, then becoming cross-linked to several other corneocyte envelope proteins (e.g...

..., have identified major susceptibility loci for AD on chromosomes 3q21 (ATOD1), 1q21 (ATOD2), 20p (ATOD3), 17q25.3 (ATOD4), 13q12-q14 (ATOD5), 5q31-q33 (ATOD6), 11q13.5 (ATOD7), 4q22.1 (ATOD8) and 3p24 (ATOD9) (OMIM 603165) [ 3 ] (fig. 2 ). Furthermore, a recent genome-wide association study for FLG...

... = 2,843). Adjusted for gender and parental allergy. Eczema, Older Siblings and FLG Mutations Several studies have shown a protective effect of older siblings on eczema development, which is in line with the hygiene hypothesis. However, findings are not consistent [ 14 , 15...

... recessive trait due to loss-of-function mutations in the FLG gene located on chromosome 1q21 that codes for the (pro)filaggrin molecule [ 3 ]. This led to exciting results showing that approximately 30-50% of AD patients are heterozygous for mutations in the FLG gene [ 4 ]. Schematic representation...

... of keratin. Additionally, metabolites of filaggrin are part of the natural moisturizing factor (NMF), necessary for proper SC hydration. FLG -null mutations (and the intragenic copy number variation) are highly associated with AD and identified as a major risk factor [ 5 , 6 , 7 , 8 , 9 , 10 , 11...

... or TEWL increase after repeated single or tandem exposure to multiple irritants in AD compared to healthy, non-atopic control subjects [ 25 , 56 ]. In 2006, Palmer et al. [ 59 ] identified loss-of-function mutations in the gene encoding the epidermal differentiation protein filaggrin ( FLG...

...-of-function mutations in the filaggrin gene (FLG) or secondarily due to exposure to exogenous factors or inflammation [ 3 , 5 , 6 , 7 , 8 , 9 ]. The amount of passive water evaporation from the skin surface is known as transepidermal water loss (TEWL) and is a marker of the inside-outside barrier [ 1...

... and lipids have been demonstrated. A decrease in the epidermal granular layer and its predominant protein, filaggrin, has long been recognized as a feature of ichthyosis vulgaris, the most common disorder of cornification. The discovery in 2006 of loss-of-function mutations in profilaggrin (FLG...

..., Ackermann K, Plendl J, Korting HC, Hennies HC, Schäfer-Koriting M: Hallmarks of atopic skin mimicked in vitro by means of a skin disease model based on FLG knock-down. Altern Lab Anim 2011;39:471-480. 24. Vávrová K, Henkes D, Strüver K, Sochorová M, Skolová B, Witting MY, Friess W, Schreml S, Meier RJ...

... the severity and chronicity of disease [ 5 , 6 , 7 ], the level of skin involvement [ 5 ], itch intensity [ 5 , 7 ], the presence of atopy [ 3 ], the extent of skin barrier disruption [ 6 ], genetic predisposition to a skin barrier defect ( FLG gene mutations) [ 8 , 9 ], skin dryness [ 10 ], anatomical site...

... of interleukin-4 and IgE [ 33 ]. To date, several genes associated with atopic eczema have been identified. Of them, the gene encoding filaggrin (FLG) has been the most consistently replicated. FLG is an important protein that is involved in the maintenance of the skin barrier function and skin hydration [ 34...

... S Arseculeratne G Munro CS Sergeant A O’Regan G Bale SJ Compton JG Di Giovanna JJ Presland RB Fleckman P McLean WH: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38: 337-342 24. Akiyama M: FLG mutations in ichthyosis vulgaris...

... to the ability of the barrier to prevent allergen permeation [ 94 , 95 ]. Variants of the FLG gene that result in loss or reduction of filaggrin function are the most widely replicated genetic risk factors for AD identified to date, and account for 15-50% of cases depending on severity [ 96 , 97 ]. Several...

... due to the absence of filaggrin does not result in obvious changes in TJ proteins and functionality in FLG knockout (FLG-/-) mice [ 29 ]. But, interestingly, FLG knockout in humans, i.e. patients with ichthyosis vulgaris , show a down-regulation of Ocln and ZO-1 and impaired barrier function...