Filaggrin

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Filaggrin

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Author : Jacob P. Thyssen
language : en
Publisher: Springer
Release Date : 2014-05-27

Filaggrin written by Jacob P. Thyssen and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-05-27 with Medical categories.

Filaggrin gene mutations are common in Europeans and their descendants, as well as in Asians, reaching a prevalence of up to 10%. Filaggrin proteins are crucial for skin homeostasis as their metabolites maintain skin hydration, keep the skin pH low, and provide protection against solar radiation. FLG mutation carriers suffer from dry and scaly skin and have an increased transfer of allergens and chemicals across the epidermis. Moreover, they have 10% higher serum vitamin D levels, potentially affecting the propensity to develop other diseases. FLG loss-of-function mutations represent the strongest risk factor hitherto discovered for atopic dermatitis and are major predisposing factors for related asthma and hay fever. This textbook provides comprehensive and detailed coverage of the effects of FLG mutations in health and disease (cutaneous and non-cutaneous) and also discusses the basic science, epidemiology, management, and future research areas.

The Role Of Filaggrin In Skin Barrier Function And Atopic Dermatitis

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Author : Roland Poh Cheong Chu
language : en
Publisher:
Release Date : 2011

The Role Of Filaggrin In Skin Barrier Function And Atopic Dermatitis written by Roland Poh Cheong Chu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with categories.

Role Of Filaggrin In Skin Barrier Function And Atopic Dermatitis

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Author : Roland Poh Cheong Chu
language : en
Publisher:
Release Date : 2012

Role Of Filaggrin In Skin Barrier Function And Atopic Dermatitis written by Roland Poh Cheong Chu and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012 with categories.

Skin Barrier Function

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Author : T. Agner
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2016-02-04

Skin Barrier Function written by T. Agner and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-02-04 with Medical categories.

Although a very fragile structure, the skin barrier is probably one of the most important organs of the body. Inward/out it is responsible for body integrity and outward/in for keeping microbes, chemicals, and allergens from penetrating the skin. Since the role of barrier integrity in atopic dermatitis and the relationship to filaggrin mutations was discovered a decade ago, research focus has been on the skin barrier, and numerous new publications have become available. This book is an interdisciplinary update offering a wide range of information on the subject. It covers new basic research on skin markers, including results on filaggrin and on methods for the assessment of the barrier function. Biological variation and aspects of skin barrier function restoration are discussed as well. Further sections are dedicated to clinical implications of skin barrier integrity, factors influencing the penetration of the skin, influence of wet work, and guidance for prevention and saving the barrier. Distinguished researchers have contributed to this book, providing a comprehensive and thorough overview of the skin barrier function. Researchers in the field, dermatologists, occupational physicians, and related industry will find this publication an essential source of information.

Topical Filaggrin Introduction As An Effective Therapeutic Strategy For Treating Atopic Dermatitis And Ichthyosis Vulgaris

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Author : Thomas Edward Stout
language : en
Publisher:
Release Date : 2011

Topical Filaggrin Introduction As An Effective Therapeutic Strategy For Treating Atopic Dermatitis And Ichthyosis Vulgaris written by Thomas Edward Stout and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with categories.

The N Terminal Domain Of Filaggrin 2 Co Localizes Binds To And Activates The Skin Aspartic Acid Protease In The Epidermis Of Human Skin

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Author : Mark DONOVAN
language : en
Publisher:
Release Date : 2017

The N Terminal Domain Of Filaggrin 2 Co Localizes Binds To And Activates The Skin Aspartic Acid Protease In The Epidermis Of Human Skin written by Mark DONOVAN and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.

Filaggrin processing is a major biological event in the production of the free amino acid component of Natural Moisturizing Factors (NMF) in skin hydration. Skin aspartic acid protease (SASPase) is one of the key enzymes involved in the early processing of filaggrin during epidermal terminal differentiation. Functional mutations in the SASPase gene have resulted in an impaired stratum corneum barrier function and the onset of dry skin condition (xerosis). In previous studies, yeast two hybrid analyses using SASPase as bait against a human reconstructed skin library identified that the N-terminal domain of filaggrin 2 (Flg2-Nter) strongly bound to the N-terminal fragment of SASPase. This study aimed at deepening our understanding of the regulation of SASPase by Flg2-Nter. Surface Plasmon Resonance analyses confirmed SASPase binding by Flg2-Nter which was unique among related S100 proteins. Confocal immunohistochemical studies in human skin, using specific antibodies to SASPase and Flg2-Nter showed that the two proteins co-localized within the stratum granulosum. Their interaction was confirmed by PLA in cultured cells . Western blots confirmed the presence of Flg2-Nter in all layers of the stratum corneum and epidermis. In vitro enzymatic assays and western blots showed that the Flg2-Nter and a peptide from the EF-Hand of this region enhanced SASPase activity and its auto-activation to its 14 kDa active form. Thus, the data suggests that Flg2-Nter can regulate the auto-activation of SASPase, which may be a key event upstream from filaggrin processing to NMF in the human skin.

Atopic Dermatitis And Filaggrin Deficiency Lead To Characteristic Shifts Of Skin Microbiome

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Author : Hansju00f6rg Baurecht
language : en
Publisher:
Release Date : 2017

Atopic Dermatitis And Filaggrin Deficiency Lead To Characteristic Shifts Of Skin Microbiome written by Hansju00f6rg Baurecht and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.

Genomic approaches to characterize skin bacteria have revealed characteristic site-specificities. In addition, in children with atopic dermatitis, shifts of microbial community structures were described at creases and in particular during flares, which have been postulated to mirror the disturbed skin barrier function and/or cutaneous inflammation at these sites. But it is yet unclear whether they are restricted to predilection sites or a general feature of the skin of AD patients. Further, the impact of distinct abnormalities of epidermal barrier integrity and function such as an inherited filaggrin deficiency and of the acuteness of local inflammation on cutaneous microbial community structures have not been examined so far.The skin microbiome was determined by bacterial 16S rRNA sequencing at 4 different body sites of 10 AD patients and 10 healthy controls matched for age, sex and FLG mutation status. In addition, in AD patients acute and chronic eczema lesions were analysed.Independently from the presence of AD, filaggrin deficiency was associated with decrease of diversity and Proteobacteria abundance. Irrespective of the body site, patients with AD showed an increase of Staphilococci with a predominance of S. epidermidis, which was particularly marked in predilection sites. The cutaneous microbiome at acute and chronic lesions is highly similar independently from the body site. Compared to nonlesional skin, there were gradual shifts in diversity from acute to chronic lesions. S. aureus showed a higher abundance on chronic than on acute lesions. Distinct disturbances of epidermal barrier function such as filaggrin deficiency are associated with shifts of the microbial community composition characterized by a reduced diversity, species richness and Proteobacteria abundance. In AD, there is a generalized increase of Staphilococci also on non-predilection sites. The impact of inflammation, i.e. affection by eczema, appears to overlay locoregional influences on microbiome composition.

Improving Diagnostic Yield For Filaggrin Hidden Mutations In The Dutch Population

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Author : Michel van Geel
language : en
Publisher:
Release Date : 2017

Improving Diagnostic Yield For Filaggrin Hidden Mutations In The Dutch Population written by Michel van Geel and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.

Molecular diagnostics with conventional Sanger sequencing for ichthyosis vulgaris (IV) has been hampered by the notoriously difficult to analyse filaggrin (FLG) gene, caused by its homologous and polymorphic repeated units. By implementation of single molecule molecular inversion probes (smMIPs) and next generation sequencing (NGS), an alternative screening strategy for analysis of the entire coding region of the FLG gene becomes feasible. Genetic analysis of the whole gene instead of screening for only population-specific mutations, would improve diagnostic yield by scrutinizing also for rare family-specific mutations. The smMIP-NGS strategy is easy to implement, affordable and since exclusion of NGS-duplicate-reads is possible, mutation-percentages can be related and assigned to polymorphic duplicated filaggrin-repeat-unit 8 and 10. In a cohort of previously screened Dutch patients (N=70) for only the population-specific mutations, retrospectively the whole FLG gene was analysed. Since all known mutations result in premature protein termination, focus of attention was on identifying nonsense and small insertion or deletion mutations. In several (8/70) of the screened patients additional novel truncating mutations were identified, elucidating their previously unexplained (more severe) clinical presentations.This study emphasises the need for screening the entire FLG gene for mutations, to improve the diagnostic yield in IV and identify hidden variants in the homologous repeated units of the gene. Herein, the smMIP-NGS method proves to be a reliable straightforward strategy to boost clinical diagnostics for IV.

Influence Of Filaggrin Loss Of Function Mutations In Hostu2013microbe Interactions During Atopic Skin Inflammation

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Author : Peter Olah
language : en
Publisher:
Release Date : 2017

Influence Of Filaggrin Loss Of Function Mutations In Hostu2013microbe Interactions During Atopic Skin Inflammation written by Peter Olah and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.

Loss-of-function mutations in the filaggrin gene have been indicated to directly alter skin barrier function and critically influence atopic inflammation. While skin barrier disruption, Th2 associated inflammation and bacterial dysbiosis are well-known characteristics of atopic dermatitis (AD), the interconnecting mechanisms between genotype, transcriptome and microbiome remain largely elusive. In the present study we addressed these questions using a cohort of atopic dermatitis patients carrying heterozygous loss-of-function mutations in the filaggrin gene (ADMut) (n=15), along with age, sex, body site and severity (SCORAD)-matched wild-type (ADWt) patients and healthy controls from a large-cohort study. In the context of atopic inflammation, lesional skin of ADWtdemonstrated significantly increased transcriptomic dysregulation when compared to ADMut, with the specific upregulation of pro-inflammatory cytokines and T-cell proliferation being most prominent. In the context of filaggrin dysfunction, the transcriptome was characterized by dysregulation of barrier function and water homeostasis. As expected,S. aureusdominated the microbiome in both ADWtand ADMutpatients, however, shifting microbial communities could be observed when comparing healthy with non-lesional ADWtor ADMutskin. Taken together, our integrative approach provides further insight into the.

Complete Filaggrin Deficiency In Ichthyosis Vulgaris Is Associated With Only Moderate Changes In Epidermal Permeability Barrier Function Profile

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Author : Ana María Perusquía Ortiz
language : en
Publisher:
Release Date : 2013

Complete Filaggrin Deficiency In Ichthyosis Vulgaris Is Associated With Only Moderate Changes In Epidermal Permeability Barrier Function Profile written by Ana María Perusquía Ortiz and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013 with categories.