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Filaggrin

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https://www.readbyqxmd.com/read/27913303/an-mtorc1-akt1-cathepsin-h-axis-controls-filaggrin-expression-and-processing-in-skin-a-novel-mechanism-for-skin-barrier-disruption-in-atopic-dermatitis
#1
Aishath S Naeem, Cristina Tommasi, Christian Cole, Stuart J Brown, Yanan Zhu, Benjamin Way, Saffron Ag Willis Owen, Miriam Moffatt, William O Cookson, John I Harper, Di Wl, Sara J Brown, Thomas Reinheckel, Ryan F L O'Shaughnessy
BACKGROUND: Filaggrin, encoded by the FLG gene, is an important component of the skin's barrier to the external environment and genetic defects in FLG strongly associate with Atopic Dermatitis (AD). However, not all AD patients have FLG mutations. OBJECTIVE: We hypothesised that these patients may possess other defects in filaggrin expression and processing, contributing to barrier disruption and AD, and therefore present novel therapeutic targets for this disease...
November 29, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27902816/association-of-filaggrin-loss-of-function-and-thymic-stromal-lymphopoietin-variation-with-treatment-use-in-pediatric-atopic-dermatitis
#2
Joshua Chang, Nandita Mitra, Ole Hoffstad, David J Margolis
Importance: Atopic dermatitis (AD) is a common illness of childhood. Objective: To determine whether variations in FLG and TSLP genotype corresponded to differences in treatment use over time. Design, Setting, and Participants: This prospective cohort study recruited and followed a volunteer sample of 842 children enrolled in the Pediatric Eczema Elective Registry who provided saliva samples for DNA extraction for 10 years. Eligibility criteria included age 2 to 17 years, AD diagnosis without cancer, and prior pimecrolimus use...
November 30, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27868148/the-alarmins-hmbg1and-interleukin-33-downregulate-the-structural-skin-barrier
#3
Uffe Nygaard, Ellen H van den Bogaard, Hanna Niehues, Malene Hvid, Mette Deleuran, Claus Johansen, Christian Vestergaard
The epidermal-derived "alarmins" high-mobility group box 1 (HMGB1) protein and interleukin-33 (IL-33) are upregulated in patients with atopic dermatitis. However, their capacity as pro-inflammatory cytokines and their derived effects on skin barrier regulation are poorly elucidated. We investigated the impact of HMGB1 and IL-33 on gene transcription, protein expression and epidermal differentiation across 3 distinct keratinocyte in vitro models. Primary keratinocytes from healthy donors were used in submerged monolayer cultures, 3D human epidermis equivalents and 3D human skin equivalents...
October 14, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27833999/methyl-%C3%AE-cyclodextrin-treatment-combined-to-incubation-with-interleukin-4-reproduces-major-features-of-atopic-dermatitis-in-a-3d-culture-model
#4
Tatiana do Nascimento Pedrosa, Evelyne De Vuyst, Abdallah Mound, Catherine Lambert de Rouvroit, Silvya Stuchi Maria-Engler, Yves Poumay
Atopic dermatitis (AD) skin is characterized by over-expression of interleukin (IL)-4, IL-13 and IL-25. When methyl-β-cyclodextrin (MβCD) treatment preceded exposure to these interleukins, combination of both treatments was found to mimic hallmarks of AD in vitro, such as barrier weakening, histological alterations and typical signaling responses in a reconstructed human epidermis (RHE). However, the respective role of each IL and whether any of them is critical when combined with MβCD treatment was unknown...
November 11, 2016: Archives of Dermatological Research
https://www.readbyqxmd.com/read/27828771/how-does-chronic-cigarette-smoke-exposure-affect-human-skin-a-global-proteomics-study-in-primary-human-keratinocytes
#5
Pavithra Rajagopalan, Vishalakshi Nanjappa, Remya Raja, Ankit P Jain, Kiran K Mangalaparthi, Gajanan J Sathe, Niraj Babu, Krishna Patel, Nükhet Cavusoglu, Jeremie Soeur, Akhilesh Pandey, Nita Roy, Lionel Breton, Aditi Chatterjee, Namita Misra, Harsha Gowda
Cigarette smoking has been associated with multiple negative effects on human skin. Long-term physiological effects of cigarette smoke are through chronic and not acute exposure. Molecular alterations due to chronic exposure to cigarette smoke remain unclear. Primary human skin keratinocytes chronically exposed to cigarette smoke condensate (CSC) showed a decreased wound-healing capacity with an increased expression of NRF2 and MMP9. Using quantitative proteomics, we identified 4728 proteins, of which 105 proteins were overexpressed (≥2-fold) and 41 proteins were downregulated (≤2-fold) in primary skin keratinocytes chronically exposed to CSC...
November 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27824549/acpas-are-much-more-than-diagnostic-autoantibodies
#6
REVIEW
Abdulla Watad, Howard Amital
Anti-citrullinated protein autoantibodies (ACPAs) are the major autoantibodies in rheumatoid arthritis (RA). Anti-citrullinated protein autoantibodies are directed against different citrullinated antigens, including filaggrin, fibrinogen, vimentin, and collagen. Presence of ACPA is associated with joint damage and extra-articular manifestations, suggesting that ACPAs are most likely pathogenic autoantibodies in RA. In vitro, ACPAs induce macrophage tumor necrosis factor alpha (TNF-α) production, osteoclastogenesis, and complement activation...
October 31, 2016: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/27818314/pax6-regulates-human-corneal-epithelium-cell-identity
#7
Koji Kitazawa, Takafusa Hikichi, Takahiro Nakamura, Chie Sotozono, Shigeru Kinoshita, Shinji Masui
PAX6, a paired box transcription factor, is necessary for eye development. However, how it regulates the cell identity of human corneal epithelial cells (CECs) is not well understood. We aimed to clarify the function of PAX6 in human CECs using gene knockout via the clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR associated protein 9 (Cas9) system. We designed guide RNAs for different targets in PAX6. PAX6-depleted CECs maintained the epithelial morphology, but became larger. Global analyses using microarray revealed that down-regulated genes were primarily CEC-specific and included keratin 12, keratin 3, clusterin (CLU), aldehyde dehydrogenase 3 family member A1 (ALDH3A1), angiopoietin-like 7 (ANGPTL7) and transketolase (TKT), while up-regulated genes were primarily epidermis-related and included keratin 10, keratin 1, involucrin (IVL), filaggrin (FLG)...
November 3, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27813070/atopic-dermatitis-a-tale-of-two-distinct-pathomechanisms-that-make-you-itch
#8
Edward F Knol, DirkJan Hijnen
Atopic dermatitis (AD) or eczema is the most common chronic inflammatory skin disease. It is a multifactorial disease with local and systemic immune changes. Current therapies focus on restoring the local skin barrier or inhibiting immune responses. In this issue of the European Journal of Immunology, Sehra et al. [Eur. J. Immunol. 2016. 46:2609-2613] describe a mouse model with T-cell-specific expression of constitutively active Stat6 in Flaky tail mice, which have mutations in the Flg and Tmem79 genes. The authors describe that it is the combination of changes in the skin barrier proteins filaggrin and Tmem79, together with Th2 cytokine signaling in the constitutively active Stat6 transgene, that drives the immune-pathomechanism in AD...
November 2016: European Journal of Immunology
https://www.readbyqxmd.com/read/27805415/determination-of-natural-moisturizing-factors-in-the-skin-raman-microspectroscopy-versus-hplc
#9
S A Koppes, P Kemperman, I van Tilburg, F Calkoen-Kwa, K A Engebretsen, G J Puppels, P J Caspers, S Kezic
BACKGROUND: Natural moisturizing factors (NMF) is used as genotypic and phenotypic biomarker in diagnostics. This study is a side-to-side comparison of two different methods to determine NMF in atopic dermatitis patients: Raman microspectroscopy and stratum corneum tape stripping followed by HPLC. RESULTS: Measured NMF values were significantly correlated (R2 = 0.61; P < 0.0001), both methods demonstrated a concentration-depth dependence of NMF and reduced NMF levels in the carriers of filaggrin null mutations...
November 2, 2016: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/27793761/alterations-in-epidermal-eicosanoid-metabolism-contribute-to-inflammation-and-impaired-late-differentiation-in-flg-mutated-ad
#10
Stefan Blunder, Ralph Rühl, Verena Moosbrugger-Martinz, Christine Krimmel, Anita Geisler, Huiting Zhu, Debra Crumrine, Peter M Elias, Robert Gruber, Matthias Schmuth, Sandrine Dubrac
Loss-of-function mutations in the filaggrin (FLG) gene cause ichthyosis vulgaris (IV) and represent the major predisposing genetic risk factor for atopic dermatitis (AD). While both conditions are characterized by epidermal barrier impairment, AD also exhibits signs of inflammation. This work was aimed at delineating the role of FLG loss-of-function mutations on eicosanoid metabolism in IV and AD. Using epidermal equivalents (HEEs) generated with keratinocytes isolated from non-lesional skin of patients with FLG wild type AD (WT/WT), FLG-mutated AD (FLG/WT), IV (FLG/FLG) or FLG WT control skin, we assessed the potential autocrine role of epidermal-derived eicosanoids in FLG-associated vs...
October 25, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27788876/the-clinical-relevance-of-filaggrin-mutations-effect-on-allergic-disease
#11
REVIEW
Mark W Tenn, Anne K Ellis
No abstract text is available yet for this article.
November 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27777593/genetic-and-epigenetic-studies-of-atopic-dermatitis
#12
REVIEW
Lianghua Bin, Donald Y M Leung
BACKGROUND: Atopic dermatitis (AD) is a chronic inflammatory disease caused by the complex interaction of genetic, immune and environmental factors. There have many recent discoveries involving the genetic and epigenetic studies of AD. METHODS: A retrospective PubMed search was carried out from June 2009 to June 2016 using the terms "atopic dermatitis", "association", "eczema", "gene", "polymorphism", "mutation", "variant", "genome wide association study", "microarray" "gene profiling", "RNA sequencing", "epigenetics" and "microRNA"...
2016: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/27769845/calpain-12-function-revealed-through-the-study-of-an-atypical-case-of-autosomal-recessive-congenital-ichthyosis
#13
Ron Bochner, Liat Samuelov, Ofer Sarig, Qiaoli Li, Christopher A Adase, Ofer Isakov, Natalia Malchin, Dan Vodo, Ronna Shayevitch, Alon Peled, Benjamin D Yu, Gilad Fainberg, Emily Warshauer, Noam Adir, Noam Erez, Andrea Gat, Yehonatan Gottlieb, Tova Rogers, Mor Pavlovsky, Ilan Goldberg, Noam Shomron, Aileen Sandilands, Linda E Campbell, Stephanie MacCallum, W H Irwin McLean, Gil Ast, Richard L Gallo, Jouni Uitto, Eli Sprecher
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with 2 forms of ichthyosis, autosomal recessive congenital ichthyosis and harlequin ichthyosis...
October 18, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27765722/staphylococcus-aureus-induces-increased-serine-protease-activity-in-keratinocytes
#14
M R Williams, T Nakatsuji, J A Sanford, A F Vrbanac, R L Gallo
Bacteria that reside on the skin can influence the behavior of the cutaneous immune system, but the mechanisms responsible for these effects are incompletely understood. Colonization of the skin by Staphylococcus aureus (S. aureus) is increased in atopic dermatitis (AD) and can result in increased severity of the disease. In this study we show that S. aureus stimulates human keratinocytes to increase their endogenous protease activity, including specific increases in trypsin activity. This increased protease activity coincided with increased expression of mRNA for kallikreins (KLKs), with KLK6, 13, and 14 showing the greatest induction after exposure to S...
October 17, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27742573/deimination-of-human-hornerin-enhances-its-processing-by-calpain-1-and-its-cross-linking-by-transglutaminases
#15
Chiung-Yueh Hsu, Géraldine Gasc, Anne-Aurélie Raymond, Odile Burlet-Schiltz, Hidenari Takahara, Guy Serre, Marie-Claire Méchin, Michel Simon
Hornerin (HRNR) shares numerous features with filaggrin, a key contributor to the epidermal barrier functions. The two proteins display a related structural organization, are expressed by the granular keratinocytes as a large precursor processed by proteolysis, and are cross-linked to the cornified cell envelopes. Two main steps in the metabolism of filaggrin are its deimination and calpain-1 cleavage. Here, using ion-exchange chromatography and two-dimensional gel electrophoresis of human epidermis extracts, we determined that HRNR is deiminated in vivo...
October 11, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27742393/epidermal-equivalents-of-filaggrin-null-keratinocytes-do-not-show-impaired-skin-barrier-function
#16
Hanna Niehues, Joost Schalkwijk, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Michelle M van Rossum, Ewa Wladykowski, Johanna M Brandner, Ellen H J van den Bogaard, Patrick L J M Zeeuwen
We investigated differentiation and barrier properties of epidermal equivalents derived from ichthyosis vulgaris keratinocytes that were homozygous for FLG null mutations. We found no effect on penetration of tracer molecules, compared with filaggrin proficient keratinocytes.
October 11, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27725295/trying-to-understand-the-genetics-of-atopic-dermatitis
#17
REVIEW
Susanne Stemmler, Sabine Hoffjan
Atopic dermatitis (AD) is a common and complex skin disease associated with both genetic and environmental factors. Loss-of-function mutations in the filaggrin gene, encoding a structural protein with an important role in epidermal barrier function, constitutes a well recognised susceptibility locus for AD. Further, genome-wide association studies (GWAS), including large meta-analyses, have discovered 38 additional susceptibility loci with genome-wide significance. However, the reported variations only explain a fraction of the overall heritability of AD...
December 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27725187/gram-positive-anaerobe-cocci-gpac-are-underrepresented-in-the-microbiome-of-filaggrin-deficient-human-skin
#18
Patrick L J M Zeeuwen, Thomas H A Ederveen, Danique A van der Krieken, Hanna Niehues, Jos Boekhorst, Sanja Kezic, Daniëlle A T Hanssen, Marisol E Otero, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Denise Falcone, Ellen H J van den Bogaard, Marijke Kamsteeg, Heleen D de Koning, Manon E J Zeeuwen-Franssen, Maurice A M van Steensel, Michiel Kleerebezem, Harro M Timmerman, Sacha A F T van Hijum, Joost Schalkwijk
Mutations in the filaggrin gene, which cause the skin disease ichthyosis vulgaris and are a genetic risk factor for atopic dermatitis, alter the cutaneous microbiome thereby affecting keratinocyte host defense responses following skin barrier disruption.
October 7, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27720760/trim32-deficiency-enhances-th2-immunity-and-predisposes-to-features-of-atopic-dermatitis
#19
Yuangang Liu, Zhiping Wang, Rachel De La Torre, Ashley Barling, Takahiro Tsujikawa, Noah Hornick, Jon Hanifin, Eric Simpson, Yun Wang, Emily Swanzey, Aaron Wortham, Hao Ding, Lisa M Coussens, Molly Kulesz-Martin
Altered innate immunity is a feature of certain skin inflammatory diseases such as psoriasis and atopic dermatitis (AD). In this study, we provide evidence that deficiency in Trim32 (a tripartite motif [TRIM] protein with innate antiviral activity) contributes to a T helper type 2 biased response and predisposes to features of AD in mice. On treatment with the toll-like receptor 7 agonist imquimod (IMQ), Trim32 knockout mice displayed compromised psoriasiform phenotypes and defective T helper type 17 response...
October 5, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27678121/atopic-dermatitis-susceptibility-variants-in-filaggrin-hitchhike-hornerin-selective-sweep
#20
Muthukrishnan Eaaswarkhanth, Duo Xu, Colin Flanagan, Margarita Rzhetskaya, M Geoffrey Hayes, Ran Blekhman, Nina Jablonski, Omer Gokcumen
Human skin has evolved rapidly, leaving evolutionary signatures in the genome. The filaggrin (FLG) gene is widely studied for its skin-barrier function in humans. The extensive genetic variation in this gene, especially common loss-of-function (LoF) mutations, has been established as primary risk factors for atopic dermatitis. To investigate the evolution of this gene, we analyzed 2,504 human genomes and genotyped the copy number variation of filaggrin repeats within FLG in 126 individuals from diverse ancestral backgrounds...
September 27, 2016: Genome Biology and Evolution
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