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https://www.readbyqxmd.com/read/29237149/association-of-antibodies-to-citrullinated-protein-antigens-with-blood-pressure-in-first-degree-relatives-of-rheumatoid-arthritis-patients-the-studies-of-the-etiology-of-rheumatoid-arthritis
#1
Jan M Hughes-Austin, Ryan W Gan, Kevin D Deane, Michael H Weisman, M Kristen Demoruelle, Jeremy Sokolove, William H Robinson, V Michael Holers, Jill M Norris, Joachim H Ix
BACKGROUND: Hypertension is more common in patients with rheumatoid arthritis (RA) than in the general population. It is unknown whether hypertension is due to RA-related medications or the disease itself. Therefore, we sought to investigate associations between RA-related autoantibodies, specifically antibodies to citrullinated protein antigens (ACPA) and systolic blood pressure (SBP) and diastolic blood pressure (DBP) in first-degree relatives of RA patients, who were free of RA and RA-related medications...
December 13, 2017: American Journal of Nephrology
https://www.readbyqxmd.com/read/29221585/physiopathologie-de-la-dermatite-atopique-pathophysiology-of-atopic-dermatits
#2
S Barbarot, H Aubert
Atopic dermatitis is a multifactorial disease due to a combination of genetic and environmental factors. The pathophysiological mechanisms involved in AD are multiple: innate functional abnormality in the skin barrier partly linked to mutations of the filaggrin, a major structural protein of the skin; and genes involved in innate and adaptive immunity; Finally, the model of the hygiene theory has been clarified in recent years: environmental factors alter the diversity of skin and digestive microbiomes, and this diversity seems to play a major role in the development of atopy...
January 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29183042/expression-and-regulation-of-s100-fused-type-protein-hornerin-at-the-ocular-surface-and-lacrimal-apparatus
#3
Fabian Garreis, Janine Jahn, Katharina Wild, Daniel B Abrar, Martin Schicht, Jens-Michael Schröder, Friedrich Paulsen
Purpose: The S100 fused-type proteins hornerin (HRNR) and filaggrin-2 (FLG2) are members of the epidermal differentiation complex, which is involved in terminal differentiation of keratinocytes via cornification as well as maintenance of the epidermal antimicrobial barrier. We investigated the expression and possible regulation of HRNR and FLG2 at the ocular surface and in the lacrimal apparatus. Methods: Tissues of the lacrimal apparatus and ocular surface were analyzed systematically by means of RT-PCR, immunohistochemistry, and immuntransmission electron microscopy (iTEM) for their ability to express and produce HRNR and FLG2...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29176352/new-science-and-treatment-paradigms-for-atopic-dermatitis
#4
James G Dinulos, Alyssa Trickett, Caroline Crudele
PURPOSE OF THE REVIEW: The prevalence of atopic dermatitis is increasing in industrialized countries for unclear reasons. One theory centers on reduced exposure to microbes during infancy and childhood. Alterations in the epidermal permeability barrier, place certain patients at risk for the immunological dysfunction seen in atopic dermatitis. This review examines current research pertaining to the epidermal permeability barrier, the cutaneous microbiome, and the immunology of atopic dermatitis...
November 15, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29166506/is-ki-67-keratin-16-involucrin-and-filaggrin-immunostaining-sufficient-to-diagnose-inflammatory-linear-verrucous-epidermal-nevus-a-report-of-eight-cases-and-a-comparison-with-psoriasis-vulgaris
#5
Jing Peng, Shu-Bin Sun, Pei-Pei Yang, Yi-Ming Fan
Inflammatory linear verrucous epidermal nevus and linear psoriasis are sometimes hard to differentiate clinically and pathologically. Although immunohistochemical expression of keratin 10 (K10), K16, Ki-67, and involucrin may be useful for differentiating both entities, these results have been reported in only a few cases. We collected data from 8 patients with inflammatory linear verrucous epidermal nevus, 11 with psoriasis vulgaris, and 8 healthy controls and evaluated immunohistochemical expression of Ki-67, K16, involucrin, and filaggrin among them...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29156522/the-prevention-of-tnf-%C3%AE-ifn-%C3%AE-mixture-induced-inflammation-in-human-keratinocyte-and-atopic-dermatitis-like-skin-lesions-in-nc-nga-mice-by-mineral-balanced-deep-sea-water
#6
Kyu-Shik Lee, So-Young Chun, Min-Gu Lee, Soyoung Kim, Tae-Jung Jang, Kyung-Soo Nam
Atopic dermatitis (AD) is a chronic inflammatory skin disease caused by environmental and chemical allergens. Despite the complexity of its pathogenesis, many investigations have shown that substances having anti-inflammatory activities alleviated the pathology of AD. Here, we evaluated the effects of mineral-balanced deep sea water (DSW) on AD-like skin damage in both in vitro and in vivo. The results showed that mineral-balanced DSW regressed inflammatory chemokines, such as macrophage-derived chemokine (MDC), thymus- and activation-regulated chemokine (TARC) and regulated on activation, normal T-cell expressed and secreted (RANTES), and cytokines, interleukin (IL)-6 and granulocyte-macrophage colony-stimulating factor (GM-CSF) mRNA expression in HaCaT immortal human keratinocyte treated with tumor necrosis factor (TNF)-α/ interferon (IFN)-γ mixture...
November 14, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29153780/barrier-dysfunction-in-the-skin-allergy
#7
REVIEW
Gyohei Egawa, Kenji Kabashima
The skin is continuously exposed to external pathogens, and its barrier function is critical for skin homeostasis. Previous studies have shown that the barrier dysfunction is one of the most predisposing factors for the development of skin allergic diseases such as atopic dermatitis. In this article, we summarize how the physical barrier of the skin is organized and review its link to the pathomechanism of skin allergic diseases. We describe the formation of the SC barrier in terms of the following five categories: 1) filaggrin metabolism; 2) cornified envelope; 3) intercellular lipids; 4) corneodesmosome; and 5) corneocyte desquamation...
November 16, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/29136308/author-s-response-to-the-comment-to-compound-heterozygotes-for-filaggrin-gene-mutations-do-not-always-show-severe-atopic-dermatitis
#8
A Sekiya, K Kono, M Akiyama
FLG mutations play a causal role in the development of ichthyosis vulgaris (IV) and are known to be a predisposing factor for atopic dermatitis (AD) in European and Asian populations. However, it remains a matter of debate how loss of function of filaggrin leads to AD. Skin barrier dysfunction due to the loss of structural proteins in the epidermis makes it easy for allergens to invade, and sensitization to the allergens, increases in serum IgE, and dermatitis follow. In addition, loss of filaggrin results in increased pH in the stratum corneum, increased serine protease activity and hyper-activation of cytokine cascades...
November 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29136300/comments-to-compound-heterozygotes-for-filaggrin-gene-mutations-do-not-always-show-severe-atopic-dermatitis
#9
Luigi Auricchio
recent paper by Akiyama and coworkers questions one more time about role of FLG in A.D.Since first reports of heterozygous mutations of FLG in A.D. patients (1) replicated in northern European populations (2-3-4) and therefore in other populations worldwide (5), genetic studies of patient with I.V. /intrinsic A.D. of different populations of different ancestry as African American (6), and Ethiopian (7) make clear that haploinsufficiency of other structural proteins of epidermis are pathogenic for this phenotype and confirmed the Elias et al...
November 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29122406/sensitive-skin-is-highly-frequent-in-extrinsic-atopic-dermatitis-and-correlates-with-disease-severity-markers-but-not-necessarily-with-skin-barrier-impairment
#10
Tsuyoshi Yatagai, Takatoshi Shimauchi, Hayato Yamaguchi, Jun-Ichi Sakabe, Masahiro Aoshima, Shigeki Ikeya, Kazuki Tatsuno, Toshiharu Fujiyama, Taisuke Ito, Toshiyuki Ojima, Yoshiki Tokura
BACKGROUND: Sensitive skin is a condition of cutaneous hypersensitivity to environmental factors. Lactic acid stinging test (LAST) is commonly used to assess sensitive skin and composed of four distinct sensations (pain, burning sensation, itch, and crawly feeling). A link between sensitive skin and barrier dysfunction has been proposed in atopic dermatitis (AD) patients. However, clinical and laboratory factors that are associated with sensitive skin remain unelucidated. OBJECTIVE: To investigate relationship between sensitive skin and AD-associated markers...
November 2, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29068602/filaggrin-loss-of-function-mutations-as-a-predictor-for-atopic-eczema-allergic-sensitization-and-eczema-associated-asthma-in-polish-children-population
#11
Anna Dębińska, Hanna Danielewicz, Anna Drabik-Chamerska, Danuta Kalita, Andrzej Boznański
BACKGROUND: Loss-of-function mutations in the filaggrin (FLG) gene were identified as a major risk factor for atopic eczema. OBJECTIVES: The aim of the study was to investigate the importance of 4 common FLG null mutations in the susceptibility to atopic eczema and other allergic phenotypes in Polish children population. MATERIAL AND METHODS: The FLG mutations were determined in 158 children younger than 2 years of age. All subjects were selected using a detailed questionnaire and blood samples for total and specific IgE measurements were obtained...
September 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29063428/atopic-dermatitis-pathophysiology
#12
W David Boothe, James A Tarbox, Michelle B Tarbox
The pathophysiology of atopic dermatitis is complex and multifactorial, involving elements of barrier dysfunction, alterations in cell mediated immune responses, IgE mediated hypersensitivity, and environmental factors. Loss of function mutations in filaggrin have been implicated in severe atopic dermatitis due to a potential increase in trans-epidermal water loss, pH alterations, and dehydration. Other genetic changes have also been identified which may alter the skin's barrier function, resulting in an atopic dermatitis phenotype...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29063427/atopic-dermatitis-disease-background-and-risk-factors
#13
Zelma C Chiesa Fuxench
Multiple risk factors have been associated with the development of atopic dermatitis (AD). Recent advances in understanding the role of genetics in this disease have been made, with discovery of the filaggrin (FLG) gene as the most notable so far. In addition to FLG gene mutations as a risk factor for AD, a positive family history of atopic or allergic disease in either parent, has been shown to confer a greater risk of developing AD. Atopic dermatitis usually presents early in life and is thought to represent the initial-step in the "atopic march" which is characterized by the development of other atopic diseases later in life such as asthma, allergic rhinitis and/or rhinoconjunctivitis, food allergies and hay fever...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29056476/array-based-sequencing-of-filaggrin-gene-for-comprehensive-detection-of-disease-associated-variants
#14
X F Colin C Wong, Simon L I J Denil, Jia Nee Foo, Huijia Chen, Angeline Su Ling Tay, Rebecca L Haines, Mark B Y Tang, W H Irwin McLean, Aileen Sandilands, Frances J D Smith, E Birgitte Lane, Jianjun Liu, John E A Common
Comprehensive sequencing of FLG is a challenging endeavour. We have developed a method using array-based amplicon PCR and NGS for a robust and cost efficient method to analyze this major atopic dermatitis risk factor.
October 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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