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Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441539
EISBN: 978-3-318-05586-3
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441589
EISBN: 978-3-318-05586-3
... 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...
Book Chapter
Series: Current Directions in Autoimmunity
Volume: 10
Published: 26 May 2008
10.1159/000131450
EISBN: 978-3-8055-8392-3
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 39
Published: 15 September 2010
10.1159/000321086
EISBN: 978-3-8055-9395-3
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 41
Published: 09 May 2011
10.1159/000323291
EISBN: 978-3-8055-9687-9
..., 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...
Book Chapter
Series: Chemical Immunology and Allergy
Volume: 96
Published: 16 March 2012
10.1159/000331805
EISBN: 978-3-8055-9895-8
... = 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...
Book Chapter
Series: Chemical Immunology and Allergy
Volume: 96
Published: 16 March 2012
10.1159/000331889
EISBN: 978-3-8055-9895-8
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441540
EISBN: 978-3-318-05586-3
... 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...
Book
Book Cover Image
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/isbn.978-3-318-05586-3
EISBN: 978-3-318-05586-3
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441547
EISBN: 978-3-318-05586-3
... 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...
Book
Book Cover Image
Series: Current Problems in Dermatology
Volume: 39
Published: 15 September 2010
10.1159/isbn.978-3-8055-9395-3
EISBN: 978-3-8055-9395-3
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441548
EISBN: 978-3-318-05586-3
...-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...
Book Chapter
Series: Chemical Immunology and Allergy
Volume: 96
Published: 16 March 2012
10.1159/000331916
EISBN: 978-3-8055-9895-8
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
EISBN: 978-3-318-05586-3
..., 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 54
Published: 21 August 2018
10.1159/000489523
EISBN: 978-3-318-06385-1
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 41
Published: 09 May 2011
EISBN: 978-3-8055-9687-9
... 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...
Book Chapter
Series: Chemical Immunology and Allergy
Volume: 101
Published: 21 May 2015
10.1159/000371701
EISBN: 978-3-318-02341-1
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441545
EISBN: 978-3-318-05586-3
... 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...
Book Chapter
Series: Current Problems in Dermatology
Volume: 49
Published: 12 February 2016
10.1159/000441541
EISBN: 978-3-318-05586-3
... 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...
Book
Book Cover Image
Series: Chemical Immunology and Allergy
Volume: 96
Published: 16 March 2012
10.1159/isbn.978-3-8055-9895-8
EISBN: 978-3-8055-9895-8