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https://www.readbyqxmd.com/read/28338939/it-remains-unknown-whether-filaggrin-gene-mutations-evolved-to-increase-cutaneous-synthesis-of-vitamin-d
#1
Jacob P Thyssen, Peter M Elias
No abstract text is available yet for this article.
March 9, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28317091/staphylococcus-aureus-colonization-in-atopic-eczema-and-its-association-with-filaggrin-gene-mutations
#2
M-L Clausen, S M Edslev, P S Andersen, K Clemmensen, K A Krogfelt, T Agner
BACKGROUND: Atopic dermatitis (AD) is a prevalent disease with significant impact on physical health and quality of life. Staphylococcus aureus (S. aureus) has been directly correlated to disease severity, and may also be a contributing causal factor in the pathogenesis of AD. The primary aim of the present study was to assess differences in S. aureus colonization in AD patients with and without filaggrin gene (FLG) mutations. Secondarily, to assess disease severity in relation to S. aureus colonization...
March 19, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28299490/molecular-effects-of-fractional-ablative-erbium-yag-laser-treatment-with-multiple-stacked-pulses-on-standardized-human-three-dimensional-organotypic-skin-models
#3
Laurenz Schmitt, P M Amann, Y Marquardt, R Heise, K Czaja, P A Gerber, T Steiner, F Hölzle, Jens Malte Baron
The molecular changes in gene expression following ablative laser treatment of skin lesions, such as atrophic scars and UV-damaged skin, are not completely understood. A standardized in vitro model of human skin, to study the effects of laser treatment on human skin, has been recently developed. Therefore, the aim of the investigation was to examine morphological and molecular changes caused by fractional ablative erbium:YAG laser treatment on an in vitro full-thickness 3D standardized organotypic model of human skin...
March 15, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28295514/intragenic-copy-number-variation-in-the-filaggrin-gene-in-ethiopian-patients-with-atopic-dermatitis
#4
Kerstin Fernandez, Samina Asad, Fulya Taylan, Carl-Fredrik Wahlgren, Kassahun D Bilcha, Magnus Nordenskjöld, Mårten C G Winge, Maria Bradley
Genetic variants in filaggrin (FLG) involving truncating mutations or intragenic copy number variation are strongly associated with the risk of developing atopic dermatitis (AD) in European and Asian populations. Few loss-of-function mutations have been identified in Africans, although an association between FLG copy number variation and AD severity in a small African American cohort has been proposed. We studied the association between FLG copy number and AD in 132 Ethiopians and found no association between AD severity and FLG copy number, suggesting that other, still unidentified genetic factors are of more importance in predisposing Ethiopians to AD...
March 10, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28266648/the-trisaccharide-raffinose-modulates-epidermal-differentiation-through-activation-of-liver-x-receptor
#5
Tae-Young Na, Gyeong-Hwan Kim, Hyeon-Jeong Oh, Min-Ho Lee, Yong-Hyun Han, Ki Taek Kim, Ji-Su Kim, Dae-Duk Kim, Mi-Ock Lee
The epidermal barrier function requires optimal keratinocyte differentiation and epidermal lipid synthesis. Liver X receptor (LXR) α and β, are important transcriptional regulators of the epidermal gene expression. Here, we show that raffinose, a ubiquitously present trisaccharide in plants, activated the transcriptional activity of LXRα/β, which led to the induction of genes required for keratinocyte differentiation such as involucrin and filaggrin, and genes involved in lipid metabolism and transport including SCD1 and ABCA1 in both HaCaT and normal human epidermal keratinocytes...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28259851/study-protocol-to-investigate-the-environmental-and-genetic-aetiology-of-atopic-dermatitis-the-indonesian-prospective-study-of-atopic-dermatitis-in-infants-isadi
#6
Conny Tanjung, Peter Rzehak, Muchtaruddin Mansyur, Zakiudin Munasir, Herawati Sudoyo, Suzanna Immanuel, Roedi Irawan, Eva Reischl, Hans Demmelmair, Berthold Koletzko, Sri Rezeki Hadinegoro, Damayanti Rusli Sjarif
INTRODUCTION: Atopic dermatitis (AD) is the most common skin disorder in young children worldwide, with a high impact on morbidity and quality of life. To date, no prospective study has been published on the incidence and potential predictors of AD in South East Asian populations. The Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI) will address the genetic, metabolic and dietary characteristics of mothers and their offspring, as well as potential determinants of AD within the first year of infant life...
March 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/28249031/a-de-novo-variant-in-the-asprv1-gene-in-a-dog-with-ichthyosis
#7
Anina Bauer, Dominik P Waluk, Arnaud Galichet, Katrin Timm, Vidhya Jagannathan, Beyza S Sayar, Dominique J Wiener, Elisabeth Dietschi, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28242341/lowering-relative-humidity-level-increases-epidermal-protein-deimination-and-drives-human-filaggrin-breakdown
#8
Laura Cau, Valérie Pendaries, Emeline Lhuillier, Paul R Thompson, Guy Serre, Hidenari Takahara, Marie-Claire Méchin, Michel Simon
BACKGROUND: Deimination (also known as citrullination), the conversion of arginine in a protein to citrulline, is catalyzed by a family of enzymes called peptidylarginine deiminases (PADs). Three PADs are expressed in the epidermis, one of their targets being filaggrin. Filaggrin plays a central role in atopic dermatitis and is a key protein for the epidermal barrier. It aggregates keratins and is cross-linked to cornified envelopes. Following its deimination, it is totally degraded to release free amino acids, contributing to the natural moisturizing factor (NMF)...
February 20, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28238749/persistent-kallikrein-5-activation-induces-atopic-dermatitis-like-skin-architecture-independent-of-par2-activity
#9
Yanan Zhu, Joanne Underwood, Derek Macmillan, Leila Shariff, Ryan O'Shaughnessy, John I Harper, Chris Pickard, Peter S Friedmann, Eugene Healy, Wei-Li Di
BACKGROUND: Upregulation of kallikreins (KLKs) including KLK5 has been reported in atopic dermatitis (AD). KLK5 has biological functions that include degrading desmosomal proteins and inducing proinflammatory cytokine secretion through protease-activated receptor 2 (PAR2). However, due to the complex interactions between various cells in AD inflamed skin, it is difficult to dissect the precise and multiple roles of upregulated KLK5 in AD skin. OBJECTIVE: We investigated the effect of upregulated KLK5 on the expression of epidermal-related proteins and cytokines in keratinocytes and on skin architecture...
February 24, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28225793/vimentin-regulates-differentiation-switch-via-modulation-of-keratin-14-levels-and-their-expression-together-correlates-with-poor-prognosis-in-oral-cancer-patients
#10
Crismita Dmello, Sharada Sawant, Hunain Alam, Prakash Gangadaran, Saie Mogre, Richa Tiwari, Zinia D'Souza, Manish Narkar, Rahul Thorat, Komal Patil, Devendra Chaukar, Shubhada Kane, Milind Vaidya
Vimentin is an intermediate filament protein, predominantly expressed in cells of mesenchymal origin, although its aberrant expression is seen in many carcinomas during epithelial mesenchymal transition. In cancer, vimentin expression is associated with the transition from a more differentiated epithelial phenotype to a dedifferentiated state. In view of the perceived role of keratins (Ks) as regulators of differentiation in epithelia, it was important to understand whether vimentin modulates differentiation through the reprogramming of keratins, in transformed cells...
2017: PloS One
https://www.readbyqxmd.com/read/28219068/altered-expression-of-genes-encoding-cornulin-and-repetin-in-atopic-dermatitis
#11
Magdalena Trzeciak, Monika Sakowicz-Burkiewicz, Martyna Wesserling, Jolanta Gleń, Daria Dobaczewska, Tomasz Bandurski, Roman Nowicki, Tadeusz Pawelczyk
BACKGROUND: It is assumed that beside alterations in the filaggrin gene (FLG), disturbances within genes encoding other cornified envelope proteins are also involved in atopic dermatitis (AD). To identify new potential markers of AD, we studied the polymorphisms of genes encoding repetin (RPTN), cornulin (CRNN), and their expression in the skin of AD patients. METHODS: Polymorphisms in CRNN (rs941934), RPTN (rs284544, rs28441202, rs3001978, and rs12117644), and FLG mutations (R2447X, S3247X) were analyzed by TaqMan genotyping assay and by PCR-RFLP in the blood samples of 159 AD patients and 108 healthy subjects...
2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28213896/filaggrin-loss-of-function-mutations-atopic-dermatitis-and-risk-of-actinic-keratosis-results-from-two-cross-sectional-studies
#12
Y M F Andersen, A Egeberg, E Balslev, C L T Jørgensen, P B Szecsi, S Stender, J Kaae, A Linneberg, G Gislason, L Skov, P M Elias, J P Thyssen
BACKGROUND: Common loss-of-function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene mutations have been associated with squamous cell carcinomas. OBJECTIVE: The first objective was to examine the association between FLG mutations and actinic keratosis (AK)...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28191908/il-1beta-induces-thymic-stromal-lymphopoietin-and-an-atopic-dermatitis-like-phenotype-in-reconstructed-healthy-human-epidermis
#13
Marine Bernard, Cédric Carrasco, Léo Laoubi, Béatrice Guiraud, Aurore Rozières, Catherine Goujon, Hélène Duplan, Sandrine Bessou-Touya, Jean-François Nicolas, Marc Vocanson, Marie-Florence Galliano
Atopic dermatitis (AD) is a common skin inflammatory disease characterized by the production of thymic stromal lymphopoietin (TSLP) and a marked TH 2 polarization. Recent studies suggest that IL-1β contributes to the development of AD skin inflammation. Here, we have investigated the impact of IL-1β signalling on the epidermal homeostasis of both healthy subjects and AD patient [with functional filaggrin (FLG) alleles] with particular attention to TSLP production and keratinocyte differentiation. In healthy reconstructed human epidermis (RHE), IL-1β promoted: (i) a robust secretion of TSLP in an NFkB-dependant manner and (ii) a significant decrease in the expression of filaggrin and other proteins of the epidermal differentiation complex...
February 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28170435/preventive-effect-of-dietary-astaxanthin-on-uva-induced-skin-photoaging-in-hairless-mice
#14
Toshiyuki Komatsu, Suguru Sasaki, Yuki Manabe, Takashi Hirata, Tatsuya Sugawara
Astaxanthin, a carotenoid found mainly in seafood, has potential clinical applications due to its antioxidant activity. In this study, we evaluated the effect of dietary astaxanthin derived from Haematococcus pluvialis on skin photoaging in UVA-irradiated hairless mice by assessing various parameters of photoaging. After chronic ultraviolet A (UVA) exposure, a significant increase in transepidermal water loss (TEWL) and wrinkle formation in the dorsal skin caused by UVA was observed, and dietary astaxanthin significantly suppressed these photoaging features...
2017: PloS One
https://www.readbyqxmd.com/read/28165292/promoting-effect-of-lactoferrin-on-barrier-function-and-epithelial-differentiation-of-human-keratinocytes
#15
Ryo Uchida, Reiji Aoki, Ayako Aoki-Yoshida, Atsushi Tajima, Yoshiharu Takayama
The purpose of this study was to elucidate the effects of bovine lactoferrin on keratinocyte differentiation and barrier function. Addition of bovine lactoferrin to differentiating HaCaT human keratinocytes led to increased transepithelial electrical resistance (TER), a marker of epithelial barrier function. This elevation was followed by upregulation of two differentiation markers, involucrin and filaggrin. The expression level of sterol regulatory element-binding protein-1 was also enhanced by bovine lactoferrin...
February 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28164424/filaggrin-loss-of-function-mutations-as-risk-factors-for-ischemic-stroke-in-the-general-population
#16
Anette Varbo, Børge G Nordestgaard, Marianne Benn
BACKGROUND: Heritability studies have shown a considerable genetic component to ischemic stroke risk; however, much is unknown as to which genes are responsible. Also, previous studies have found an association between atopic dermatitis and increased ischemic stroke risk. OBJECTIVE: To test the hypothesis that FLG loss-of-function mutations, known to be associated with atopic dermatitis, were also associated with ischemic stroke. METHODS: 97,174 individuals, with 3,597 cases of ischemic stroke, from the Copenhagen General Population Study, the Copenhagen City Heart Study, and the Copenhagen Carotid Stroke Study were genotyped for the two most common filaggrin mutations, FLG R501X and FLG 2282del4...
February 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28140481/phenotypic-characterization-of-oral-mucosa-what-is-normal
#17
Jaroslav Valach, René Foltán, Marek Vlk, Pavol Szabo, Karel Smetana
BACKGROUND: Knowledge of the phenotypic pattern of oral squamous epithelium is important in the histopathologic evaluation of lesions including cancer. The literature on normal epithelium is controversial as the phenotype has not been evaluated in samples from completely healthy tissue donors without a history of tobacco and alcohol exposure. METHODS: In this study, we evaluated normal upper lip fornix and gingival mucosa from carefully selected young healthy donors without a history of smoking and alcohol exposure, and keratin types 8, 10, 14, and 17, filaggrin, and Ki67 were investigated in these donors...
January 31, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28122376/sensitive-skin-assessment-of-the-skin-barrier-using-confocal-raman-microspectroscopy
#18
Renée J H Richters, Denise Falcone, Natallia E Uzunbajakava, Babu Varghese, Peter J Caspers, Gerwin J Puppels, Piet E J van Erp, Peter C M van de Kerkhof
BACKGROUND/AIMS: Sensitive skin (SS), a frequently reported condition in the Western world, has been suggested to be underlined by an impaired skin barrier. The aim of this study was to investigate the skin barrier molecular composition in SS subjects using confocal Raman microspectroscopy (CRS), and to compare it with that of non-SS (NSS) individuals as well as atopic dermatitis (AD) and allergic rhinoconjunctivitis (AR) subjects, who frequently report SS. METHODS: Subjects with SS (n = 29), NSS (n = 30), AD (n = 11), and AR (n = 27) were included...
2017: Skin Pharmacology and Physiology
https://www.readbyqxmd.com/read/28120571/filaggrin-mutation-in-korean-patients-with-atopic-dermatitis
#19
Hye Rang On, Sang Eun Lee, Song Ee Kim, Won Jin Hong, Hyun Jung Kim, Toshifumi Nomura, Shotaro Suzuki, Hiroshi Shimizu, Soo Chan Kim
PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries...
March 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28105227/milia-may-originate-from-the-outermost-layers-of-the-hair-bulge-of-the-outer-root-sheath-a-case-report
#20
Ichiro Kurokawa, Ayako Kakuno, Airo Tsubura
It has been hypothesized that milia originate from the hair bulge of the outer root sheath. To elucidate the histogenesis of milia, an immunohistochemical study was performed using anti-keratin and anti-filaggrin antibodies to determine the levels of keratin and filaggrin expression. Keratin expression was evaluated using anti-keratin antibodies against K1, K7, K8, K10, K14, K15, K16, K17, K18, K19 and K20. K1 and K10 expression were detected in the suprabasal layers of the more superficial section of the cyst walls, but not in the deeper section of the cyst walls...
December 2016: Oncology Letters
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