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https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#1
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji
X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29051540/genome-wide-association-study-identifies-the-serpinb-gene-cluster-as-a-susceptibility-locus-for-food-allergy
#2
Ingo Marenholz, Sarah Grosche, Birgit Kalb, Franz Rüschendorf, Katharina Blümchen, Rupert Schlags, Neda Harandi, Mareike Price, Gesine Hansen, Jürgen Seidenberg, Holger Röblitz, Songül Yürek, Sebastian Tschirner, Xiumei Hong, Xiaobin Wang, Georg Homuth, Carsten O Schmidt, Markus M Nöthen, Norbert Hübner, Bodo Niggemann, Kirsten Beyer, Young-Ae Lee
Genetic factors and mechanisms underlying food allergy are largely unknown. Due to heterogeneity of symptoms a reliable diagnosis is often difficult to make. Here, we report a genome-wide association study on food allergy diagnosed by oral food challenge in 497 cases and 2387 controls. We identify five loci at genome-wide significance, the clade B serpin (SERPINB) gene cluster at 18q21.3, the cytokine gene cluster at 5q31.1, the filaggrin gene, the C11orf30/LRRC32 locus, and the human leukocyte antigen (HLA) region...
October 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/29050444/treatment-of-ichthyosis-vulgaris-with-a-urea-based-emulsion-videodermatoscopy-and-confocal-microscopy-evaluation
#3
Clara Benintende, Simona Boscaglia, Franco Dinotta, Francesco Lacarrubba, Giuseppe Micali
BACKGROUND: Ichthyosis vulgaris is a common disorder of keratinization caused by mutations in the filaggrin gene and clinically characterized by variable degree of xerosis. METHODS: Five patients affected by ichthyosis vulgaris and moderate to severe xerosis of the lower limbs, were treated twice daily for 30 days with an emulsion containing 10% urea, ceramides, and natural moisturizing factors (NMF). Evaluation was performed at baseline and at the end of treatment by clinical examination, Visual Analogue Scale to quantify itch, videodermatoscopy (VD), and reflectance confocal microscopy (RCM)...
December 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29042806/feeding-filaggrin-effects-of-l-histidine-supplementation-in-atopic-dermatitis
#4
Siao Pei Tan, Simon B Brown, Christopher Em Griffiths, Richard B Weller, Neil K Gibbs
Atopic dermatitis (AD), also known as eczema, is one of the most common chronic skin conditions worldwide, affecting up to 16% of children and 10% of adults. It is incurable and has significant psychosocial and economic impacts on the affected individuals. AD etiology has been linked to deficiencies in the skin barrier protein, filaggrin. In mammalian skin, l-histidine is rapidly incorporated into filaggrin. Subsequent filaggrin proteolysis releases l-histidine as an important natural moisturizing factor (NMF)...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29039482/protective-effects-of-compounds-from-garcinia-mangostana-l-mangosteen-against-uvb-damage-in-hacat-cells-and-hairless-mice
#5
A-Rang Im, Young-Mi Kim, Young-Won Chin, Sungwook Chae
Ultraviolet B (UVB) radiation causes alterations in the skin, such as epidermal thickening, wrinkle formation and inflammation. Therefore, preventing UVB-induced skin damage can promote general health among the human population. Garcinia mangostana L. (mangosteen) is a fruit that has become a popular botanical dietary supplement because of its perceived role in promoting overall health. The present study investigated the photoprotective effects of α-, β-, γ-mangostins and gartanin against UVB radiation using the HaCaT immortalized human keratinocyte cell line as an in vitro model and hairless mice as an in vivo model...
October 13, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29028924/survivor-bias-in-mendelian-randomization-analysis
#6
Stijn Vansteelandt, Oliver Dukes, Torben Martinussen
Mendelian randomization studies employ genotypes as experimental handles to infer the effect of genetically modified exposures (e.g. vitamin D exposure) on disease outcomes (e.g. mortality). The statistical analysis of these studies makes use of the standard instrumental variables framework. Many of these studies focus on elderly populations, thereby ignoring the problem of left truncation, which arises due to the selection of study participants being conditional upon surviving up to the time of study onset...
September 27, 2017: Biostatistics
https://www.readbyqxmd.com/read/28994699/fisetin-regulates-nrf2-expression-and-the-inflammation-related-signaling-pathway-to-prevent-uvb-induced-skin-damage-in-hairless-mice
#7
Po-Yuan Wu, Jia-Ling Lyu, Yi-Jung Liu, Ting-Yi Chien, Hao-Cheng Hsu, Kuo-Ching Wen, Hsiu-Mei Chiang
Chronic ultraviolet (UV) exposure may cause skin damage, disrupt skin barrier function, and promote wrinkle formation. UV induces oxidative stress and inflammation, which results in extracellular matrix degradation in the dermis and epidermal hyperplasia. Our previous study demonstrated that fisetin exerts photoprotective activity by inhibiting mitogen-activated protein kinase/activator protein-1/matrix metalloproteinases (MMPs) activation. In this study, fisetin was applied topically to investigate its antiphotodamage effects in hairless mice...
October 10, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28990053/p38-erk-mapk-signaling-pathways-are-involved-in-the-regulation-of-filaggrin-and-involucrin-by-il%C3%A2-17
#8
Qi Tan, Huan Yang, Enmei Liu, Hua Wang
Atopic dermatitis (AD) is characterized by a defective skin barrier, which increases the penetration of allergens and pathogens through the skin. The role of interleukin (IL)‑17, a pro‑inflammatory cytokine, in the pathogenesis of AD remains to be elucidated. The present study aimed to examine the effects of IL‑17 on skin barrier proteins in the HaCaT cell line. The expression levels of filaggrin (FLG) and involucrin (IVL) were evaluated by reverse transcription‑quantitative polymerase chain reaction and western blot analyses of the HaCaT cells following IL‑17 simulation...
October 2, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28967978/topical-glucose-induces-claudin-1-and-filaggrin-expression-in-a-mouse-model-of-atopic-dermatitis-and-in-keratinocyte-culture-exerting-anti-inflammatory-effects-by-repairing-skin-barrier-function
#9
Kiyoko Yamada, Kenji Matsushita, Wang Jingshu, Takuro Kanekura
Atopic dermatitis (AD) is a chronic inflammatory skin disease. Corticosteroids, which are widely used for AD treatment, have adverse effects, and alternative treatments are urgently needed. This study examined the effect of topical application of high-dose glucose on inflamed skin in a murine model of AD. High-dose glucose treatment on the ear reduced dermatitis scores and ear thicknesses in mite antigen-treated NC/Nga mice. The levels of thymus and activation-regulated chemokine (TARC), Th cytokines (interleukin (IL)-4, IL-5, IL-12, IL-13, and (interferon) IFN-γ), and IgE were decreased in the serum of high-dose glucose-treated mice...
October 2, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28965939/impaired-intracellular-pathogen-clearance-and-inflammatory-joint-disease-is-whipple-s-disease-a-guiding-light
#10
Jean-Marie Berthelot, Xavier Puéchal
Whipple's disease can mimic spondyloarthritis (SpA) or rheumatoid arthritis (RA) for many years and, in a few cases, induces the development of antibodies to cyclic citrullinated peptides. The causative agent Tropheryma whipplei can smolder within cells, including macrophages, by suppressing the xenophagic process, a type of selective autophagy that targets pathogens. Other inflammatory joint diseases may also stem from impaired xenophagy with persistence of bacteria or viruses that can eventually migrate from the mucous membranes to the joints and entheses, where they may exert adverse effects on immune responses, even if they fail to replicate...
September 28, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28936777/phytosphingosine-enhances-moisture-level-in-human-skin-barrier-through-stimulation-of-the-filaggrin-biosynthesis-and-degradation-leading-to-nmf-formation
#11
Hyun Kyung Choi, Young Hoon Cho, Eun Ok Lee, Jin Wook Kim, Chang Seo Park
Phytosphingosine (PHS) is a sphingoid that is a key component of phytoceramides NP, AP and EOP. PHS has been known to have anti-inflammation and antimicrobial activities and to stimulate epidermal differentiation. In addition, it is reported that PHS treatment notably increased phytoceramide content in keratinocytes. In this study, we tried to investigate whether PHS has any effect on the maturation of corneocytes such as formation of cornified envelope and natural moisturizing factor (NMF) that is also an essential event during the formation of skin barrier, stratum corneum...
September 21, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28928464/gata3-regulates-flg-and-flg2-expression-in-human-primary-keratinocytes
#12
Jana Zeitvogel, Neele Jokmin, Samira Rieker, Ilona Klug, Christina Brandenberger, Thomas Werfel
GATA3 is a transcription factor with an important role in atopic diseases because of its role in the differentiation of Th2 lymphocytes. Moreover, GATA3 is expressed in keratinocytes and has a role in keratinocyte differentiation and the establishment of the epidermal barrier. In this study, we investigated the role of GATA3 in keratinocytes in the context of epidermal barrier integrity under inflammatory skin conditions. When analysing skin samples from atopic dermatitis and psoriasis patients or healthy controls, we detected decreased expression of GATA3 in the stratum spinosum and stratum granulosum of atopic dermatitis and psoriasis patients when compared to healthy controls...
September 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924372/il-36%C3%AE-inhibits-differentiation-and-induces-inflammation-of-keratinocyte-via-wnt-signaling-pathway-in-psoriasis
#13
Wenming Wang, Xiaoling Yu, Chao Wu, Hongzhong Jin
Psoriasis is a common inflammatory skin disease characterized by abnormal keratinocyte inflammation and differentiation that has a major impact on patients' quality of life. IL-36γ, a member of IL-36 cytokine family, is highly expressed in psoriasis and plays an important role in inflammation response and differentiation. However, the function of IL-36γ in differentiation and inflammation of keratinocyte in psoriasis has not been clearly identified. Thus, this study aimed to investigate the role of IL-36γ on differentiation and inflammation in HaCaT cells...
2017: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/28905096/comparison-of-suction-blistering-and-tape-stripping-for-analysis-of-epidermal-genes-proteins-and-lipids
#14
Marek Svoboda, Marta Hlobilová, Markéta Marešová, Michaela Sochorová, Andrej Kováčik, Kateřina Vávrová, Iva Dolečková
Analysis of epidermal genes, proteins and lipids is important in the research and diagnosis of skin diseases. Although punch biopsy is the first-choice technique for the skin sampling, it is unnecessarily invasive for obtaining a sample just for the epidermal analysis. Here we compare two less invasive methods, suction blistering (SB) and tape stripping (TS), for the analysis of selected epidermal genes (quantitative real-time reverse transcription PCR, qRT-PCR), proteins (western blotting, WB), and lipids in ten healthy volunteers...
September 13, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28899689/enhanced-expression-of-genes-related-to-xenobiotic-metabolism-in-the-skin-of-patients-with-atopic-dermatitis-but-not-with-ichthyosis-vulgaris
#15
Stefan Blunder, Sulev Kõks, Gea Kõks, Ene Reimann, Hubert Hackl, Robert Gruber, Verena Moosbrugger-Martinz, Matthias Schmuth, Sandrine Dubrac
Previous transcriptome analyses underscored the importance of immunological and skin barrier abnormalities in atopic dermatitis (AD). We sought to identify novel pathogenic pathways involved in AD by comparing the transcriptomes of AD patients stratified for filaggrin (FLG) null mutations to those of both healthy donors and patients with ichthyosis vulgaris (IV). We applied RNA-sequencing to analyze the whole transcriptome of nonlesional skin. Six-hundred and seven genes (476 up-regulated and 131 down-regulated by greater than 2-fold) and one-hundred and ninety-three genes (172 up-regulated and 21 down-regulated by greater than 2-fold) were differentially expressed when all AD or IV patients were compared to healthy donors, respectively...
September 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28892018/antioxidant-artemisia-princeps-extract-enhances-the-expression-of-filaggrin-and-loricrin-via-the-ahr-ovol1-pathway
#16
Akiko Hirano, Masashi Goto, Tsukasa Mitsui, Akiko Hashimoto-Hachiya, Gaku Tsuji, Masutaka Furue
The Japanese mugwort, Artemisia princeps (yomogi in Japanese), has anti-inflammatory and antioxidant effects. Skin care products containing Artemisia princeps extract (APE) are known to improve dry skin symptoms in atopic dermatitis. Atopic dry skin is associated with a marked reduction of skin barrier proteins, such as filaggrin (FLG) and loricrin (LOR). Recently, aryl hydrocarbon receptor (AHR), and its downstream transcription factor OVO-like 1 (OVOL1), have been shown to regulate the gene expression of FLG and LOR...
September 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28890293/epidermal-barrier-reaction-to-an-in-vitro-psoriatic-microenvironment
#17
Elena Donetti, Laura Cornaghi, Francesca Arnaboldi, Federica Ricceri, Leonardo Pescitelli, Martina Maiocchi, Francesco Carriero, Franz Baruffaldi Preis, Francesca Prignano
Keratinocytes (KCs) and Langerhans cells (LCs) contribute to create the epidermal barrier. To form a functional epidermis, KCs express filaggrin and Toll-like Receptors (TLRs). LCs are the first line of epidermal defence and can be activated by interleukin (IL)-17 and Tumor Necrosis Factor (TNF)-alpha. In psoriasis, an alteration of TLR expression, a defective expression of filaggrin, and LC activation occur. In organotypic cultures of human skin we investigated the interplay between IL-17 and TNF-alpha on i) expression of filaggrin, TLR2, 7 and 9, and Nuclear Factor (NF)-kB localization by immunofluorescence and ii) LC ultrastructural features by transmission electron microscopy...
September 8, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28866311/filaggrin-mutations-and-molluscum-contagiosum-skin-infection-in-patients-with-atopic-dermatitis
#18
Sara Manti, Maria Amorini, Caterina Cuppari, Annamaria Salpietro, Francesca Porcino, Salvatore Leonardi, Michele Miraglia Del Giudice, Gianluigi Marseglia, Davide Paolo Caimmi, Carmelo Salpietro
BACKGROUND: Although mutations in the filaggrin (FLG) gene have been reported to predispose patients with atopic dermatitis (AD) skin infection susceptibility, to date, the data reported in the literature are still controversial. OBJECTIVE: To evaluate the role of FLG polymorphisms expression and risk of developing a concomitant Molluscum contagiosum sustained skin infection in the pediatric population with AD. METHODS: A total of 100 children with AD and 97 healthy children were enrolled...
August 30, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28865110/the-effect-of-photodamage-on-the-female-caucasian-facial-stratum-corneum-corneome-using-mass-spectrometry-based-proteomics
#19
Rainer Voegeli, Jean-Marc Monneuse, Rotraut Schoop, Beverley Summers, Anthony V Rawlings
BACKGROUND: The effect of photodamage on facial stratum corneum (SC) is still poorly understood. OBJECTIVE: To describe the SC proteome from tape strippings of Caucasian SC from photoexposed cheek and photoprotected post auricular (PA) site a global analysis of photodamage on the skin will be developed leading to a better understanding of keratinocyte signalling pathways and identification of new molecular targets for the treatment of photoaged skin. METHODS: Female Caucasian subjects had 9 consecutive tape strippings taken from their cheeks and PA site...
September 2, 2017: International Journal of Cosmetic Science
https://www.readbyqxmd.com/read/28833578/loss-of-function-mutations-in-filaggrin-gene-and-malignant-melanoma-a-case-control-study
#20
J P Thyssen, Y M F Andersen, E Balslev, P B Szecsi, S Stender, J Kaae, A Linneberg, L Skov
BACKGROUND: Loss-of-function mutations in filaggrin gene (FLG) have been suggested to increase the susceptibility of skin malignancies due to reduced levels of epidermal filaggrin and its degradation products, urocanic acid, which may be protective against ultraviolet irradiation. OBJECTIVE: We aimed to investigate the association between FLG mutation status and the occurrence of malignant melanoma (MM) in Danish adults. METHODS: The prevalence of FLG mutations in a sample of MM biopsies was compared with a FLG genotyped cohort from two general population studies...
August 22, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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