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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/29165176/the-different-roles-of-innate-immune-receptors-in-inflammation-and-carcinogenesis-between-races
#1
Natsu Yamaguchi, Yoshimi Suzuki, M H Mahbub, Hidekazu Takahashi, Ryosuke Hase, Yasutaka Ishimaru, Hiroshi Sunagawa, Rie Watanabe, Yoshinobu Eishi, Tsuyoshi Tanabe
Innate immune factors exert widespread effects on cytokine secretion, cell survival, autophagy, and apoptosis. Nucleotide-binding and oligomerization domain-like receptors (NLRs) are members of the innate immune system in the cytosol that sense pathogens, endogenous danger molecules such as uric acid, and pollutants. Nucleotide-binding oligomerization domain-containing protein 1 and 2 (NOD1 and NOD2) are components of NLR family, and ligands of these factors are γ-D-glutamyl-meso-diaminopimelic acid (iE-DAP) and muramyl dipeptide (MDP), respectively...
October 11, 2017: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29164949/local-pro-inflammatory-cytokine-and-nitric-oxide-responses-are-elevated-in-patients-with-pterygium
#2
S Zidi, F Bediar-Boulaneb, H Belguendouz, M Belkhelfa, O Medjeber, O Laouar, C Henchiri, C Touil-Boukoffa
Pterygium is a common ocular surface disease observed in humans. Chronic ultraviolet (UV) exposure is extensively recognized as an aetiological factor in the pathogenesis of this disease. This hypothesis is sustained by epidemiological and histopathological data in relation to UV injured skin. Although some findings have indicated that genetic factors, anti-apoptotic and immunological mechanisms are involved in the pathogenesis of pterygium, the mechanism by which it develops remains poorly understood. In this study, we analysed the in vivo production of IL-17A, IL-6, IL-10 and nitric oxide (NO) in the tears and sera from Algerian patients...
November 1, 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/29163443/parasite-derived-proteins-for-the-treatment-of-allergies-and-autoimmune-diseases
#3
REVIEW
Zhenyu Wu, Lifu Wang, Yanlai Tang, Xi Sun
The morbidity associated with atopic diseases and immune dysregulation disorders such as asthma, food allergies, multiple sclerosis, atopic dermatitis, type 1 diabetes mellitus, and inflammatory bowel disease has been increasing all around the world over the past few decades. Although the roles of non-biological environmental factors and genetic factors in the etiopathology have been particularly emphasized, they do not fully explain the increase; for example, genetic factors in a population change very gradually...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29163164/lassbio-897-reduces-lung-injury-induced-by-silica-particles-in-mice-potential-interaction-with-the-a2a-receptor
#4
Vinicius F Carvalho, Tatiana P T Ferreira, Ana C S de Arantes, François Noël, Roberta Tesch, Carlos M R Sant'Anna, Eliezer J L Barreiro, Carlos A M Fraga, Patrícia M Rodrigues E Silva, Marco A Martins
Silicosis is a lethal fibro-granulomatous pulmonary disease highly prevalent in developing countries, for which no proper therapy is available. Among a small series of N-acylhydrazones, the safrole-derived compound LASSBio-897 (3-thienylidene-3, 4-methylenedioxybenzoylhydrazide) raised interest due to its ability to bind to the adenosine A2A receptor. Here, we evaluated the anti-inflammatory and anti-fibrotic potential of LASSBio-897, exploring translation to a mouse model of silicosis and the A2A receptor as a site of action...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29158819/pro-inflammatory-cxcr3-impairs-mitochondrial-function-in-experimental-non-alcoholic-steatohepatitis
#5
Jinghua Du, Xiang Zhang, Juqiang Han, Kwan Man, Yanquan Zhang, Eagle Sh Chu, Yuemin Nan, Jun Yu
Mitochondrial dysfunction plays a crucial role in the development of non-alcoholic steatohepatitis (NASH). However, the regulator of mitochondrial dysfunction in the pathogenesis of NASH is still largely unclear. CXCR3 is an essential pro-inflammatory factor in chronic liver diseases. We explored the significance of CXCR3 in regulating mitochondrial function during NASH development in animal models and cultured hepatocytes. METHODS: The effects of CXCR3 on mitochondrial function were evaluated by genetic knockout or pharmacological inhibition in mouse models and in vitro...
2017: Theranostics
https://www.readbyqxmd.com/read/29158049/down-regulation-of-pro-inflammatory-pathways-by-tanshinone-iia-and-cryptotanshinone-in-a-non-genetic-mouse-model-of-alzheimer-s-disease
#6
Francesco Maione, Marialuisa Piccolo, Simona De Vita, Maria Giovanna Chini, Claudia Cristiano, Carmen De Caro, Pellegrino Lippiello, Maria Concetta Miniaci, Rita Santamaria, Carlo Irace, Vincenzo De Feo, Antonio Calignano, Nicola Mascolo, Giuseppe Bifulco
Alzheimer's disease (AD) is a common form of dementia mainly characterized by the deposition of neurofibrillary tangles and β-amyloid (Aβ) peptides in the brain. Additionally, increasing evidence demonstrates that a neuro-inflammatory state plays a key role in the development of this disease. Beside synthetic drugs, the use of natural compounds represents an alternative for the development of new potential drugs for the treatment of AD. Among these, the root of Salvia miltiorhiza Bunge (also known as Danshen) used for the treatment of cardiovascular, cerebrovascular disease and CNS functional decline in Chinese traditional medicine is one of the most representative examples...
November 17, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29155867/spectrum-of-pathogen-and-model-specific-histopathologies-in-mouse-models-of-acute-pneumonia
#7
Kristina Dietert, Birgitt Gutbier, Sandra M Wienhold, Katrin Reppe, Xiaohui Jiang, Ling Yao, Catherine Chaput, Jan Naujoks, Markus Brack, Alexandra Kupke, Christin Peteranderl, Stephan Becker, Carolin von Lachner, Nelli Baal, Hortense Slevogt, Andreas C Hocke, Martin Witzenrath, Bastian Opitz, Susanne Herold, Holger Hackstein, Leif E Sander, Norbert Suttorp, Achim D Gruber
Pneumonia may be caused by a wide range of pathogens and is considered the most common infectious cause of death in humans. Murine acute lung infection models mirror human pathologies in many aspects and contribute to our understanding of the disease and the development of novel treatment strategies. Despite progress in other fields of tissue imaging, histopathology remains the most conclusive and practical read out tool for the descriptive and semiquantitative evaluation of mouse pneumonia and therapeutic interventions...
2017: PloS One
https://www.readbyqxmd.com/read/29155769/a-simple-approach-to-induce-experimental-autoimmune-neuritis-in-c57bl-6-mice-for-functional-and-neuropathological-assessments
#8
David G Gonsalvez, Jessica L Fletcher, Sang Won Yoo, Rhiannon J Wood, Simon S Murray, Junhua Xiao
Experimental autoimmune neuritis (EAN) is a well-appreciated experimental model of autoimmune peripheral demyelinating diseases. EAN disease is induced by immunizing mice with neurogenic peptides to direct an inflammatory attack toward components of the peripheral nervous system (PNS). Recent advances have enabled the induction of EAN in the relatively resistant C57BL/6 mouse line using myelin protein zero (P0)106-125 or P0180-199 peptides delivered in adjuvant combined with the injection of pertussis toxin...
November 9, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155735/quantification-of-monocyte-transmigration-and-foam-cell-formation-from-individuals-with-chronic-inflammatory-conditions
#9
Thomas A Angelovich, Anna C Hearps, Anna Maisa, Theodoros Kelesidis, Anthony Jaworowski
Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Atherosclerosis, a leading cause of CAD, is initiated by the transmigration of innate immune monocytes to inflammatory sites of deposited lipid called fatty streaks, which are present in arterial walls of medium to large arteries. The key pathogenic feature of lesions at this early stage of atherosclerosis is the maturation of monocytes which migrate into arteries to form foam cells or lipid-laden macrophages. Considerable evidence supports the hypothesis that risk of atherosclerosis is increased by chronic inflammatory conditions accompanying diseases such as rheumatoid arthritis and HIV, as well as general ageing, and that this risk is predicted by monocyte activation...
October 17, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155234/survivin-and-autoimmunity-the-ins-and-outs
#10
REVIEW
Hamidreza Ebrahimiyan, Saeed Aslani, Nima Rezaei, Ahmadreza Jamshidi, Mahdi Mahmoudi
Autoimmunity is a status that immune mechanisms react against self-structure. The immune mechanisms, including cellular and molecular elements have been developed to immune body against foreign invades. Multiple factors such as genetic and epigenetic background, hormonal status, microbiome, and other factors can cause launching the autoreactive responses, in which the immune tolerance breaks and immune mechanisms are against self-antigens. Apoptosis is one of the important mechanisms in maintaining the tolerance and eliminating the autoreactive lymphocyte clones...
November 16, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29155051/peripheral-monocyte-entry-is-required-for-alpha-synuclein-induced-inflammation-and-neurodegeneration-in-a-model-of-parkinson-disease
#11
Ashley S Harms, Aaron D Thome, Zhaoqi Yan, Aubrey M Schonhoff, Gregory P Williams, Xinru Li, Yudong Liu, Hongwei Qin, Etty N Benveniste, David G Standaert
Accumulation of alpha-synuclein (α-syn) in the central nervous system (CNS) is a core feature of Parkinson disease (PD) that leads to activation of the innate immune system, production of inflammatory cytokines and chemokines, and subsequent neurodegeneration. Here, we used heterozygous reporter knock-in mice in which the first exons of the fractalkine receptor (CX3CR1) and of the C-C chemokine receptor type 2 (CCR2) are replaced with fluorescent reporters to study the role of resident microglia (CX3CR1+) and infiltrating peripheral monocytes (CCR2+), respectively, in the CNS...
November 16, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29154073/a-new-topical-treatment-of-atopic-dermatitis-in-pediatric-patients-based-on-ficus-carica-l-fig-a-randomized-placebo-controlled-clinical-trial
#12
Shirin Abbasi, Mohammad Kamalinejad, Delara Babaie, SeyedMohammad Shams, Zahra Sadr, Mehdi Gheysari, Vahid Reza Askari, Hassan Rakhshandeh
BACKGROUND: Atopic dermatitis (AD) is a common, chronic, relapsing and inflammatory skin disease characterized by pruritus and xerosis (dry skin). Its prevalence is on the increase worldwide, particularly in children. As the pathogenesis of AD involves a complex interaction of genetic, environmental and immunological factors, its definitive treatment is difficult. OBJECTIVE: This clinical trial was designed as equivalence study to investigate the effect of aqueous extract of edible dried fig fruit on the severity of AD as measured with scoring atopic dermatitis (SCORAD), in comparison with Hydrocortisone 1...
December 2017: Complementary Therapies in Medicine
https://www.readbyqxmd.com/read/29152796/the-genetic-basis-of-seborrheic-dermatitis-a-review
#13
REVIEW
Marko A Karakadze, Penelope A Hirt, Tongyu C Wikramanayake
Seborrheic Dermatitis (SD) is a common inflammatory skin disease that presents as itchy, flaking skin in the seborrheic areas. Various environmental and intrinsic factors have been identified as predisposing factors for SD, but its etiology remains poorly understood. Although it was recognized that genetic factors play a role in SD etiology, there have not been studies that systematically review the literature specifically for causal mutations or protein deficiencies in SD. In this review, we searched various databases for gene mutations and protein deficiencies that cause SD or SD-like phenotype in humans and experimental animals, and summarize 11 gene mutations or protein deficiencies that were described in the literature...
November 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29149924/gastrointestinal-and-hepatic-disease-in-spondyloarthritis
#14
REVIEW
Liron Caplan, Kristine A Kuhn
The association of inflammatory arthritis with intestinal pathology extends back more than 100 years. This association is now supported by epidemiologic studies demonstrating an elevated prevalence of inflammatory bowel disease in spondyloarthritis and vice versa, compared with the general population. Genetic and intestinal microbiome studies have further linked these diseases. Although diabetes and nonalcoholic fatty liver disease disproportionately affect individuals with psoriatic arthritis, diseases of the esophagus, stomach, pancreas, and liver are not particularly common in spondyloarthritis...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29148404/other-autoinflammatory-disease-genes-in-an-fmf-prevalent-population-a-homozygous-mvk-mutation-and-a-novel-heterozygous-tnfrsf1a-mutation-in-two-different-turkish-families-with-clinical-fmf
#15
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Özdoğan
OBJECTIVES: No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF". METHODS: Father and daughter of family A had attacks of fever, abdominal pain and AA amyloidosis. The two sibs of family B complained of febrile episodes with abdominal pain and arthritis. The patients were clinically investigated...
October 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29147911/dj-1-as-a-therapeutic-target-against-cancer
#16
Ji Cao, Xiaobing Chen, Meidan Ying, Qiaojun He, Bo Yang
DJ-1 is a gene involved in various cellular processes, including transcriptional regulation, oxidative stress response, fertilization, mitochondrial regulation, inflammatory and fibrogenic niche formation, and glycation damage prevention. Although a disease-associated genetic study within the past decade has demonstrated that the mutation of DJ-1 is associated with autosomal early-onset Parkinson's disease, increasing evidence suggests that DJ-1 also plays a critical role in tumor development and progression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29147436/repeated-multiple-neurofibromatosis-type-1-in-the-right-lower-limb-a-case-report
#17
Leitao Huang, Yi Ding, Lai Qi, Xia Wu, Wei Li, Gendong Huang, Min Dai, Bing Zhang
Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disease characterized by the presence of multiple neurofibromas. We encountered a unique case of NF1 that manifested as a recurrent soft tissue neurofibroma in the right lower limb that developed over a period of 16 years. The patient presented with a painless mass that was initially diagnosed as inflammatory changes via computed tomography and magnetic resonance imaging. However, the condition was subsequently diagnosed as an intraneural neurofibroma via pathological and immunohistochemical examination, which showed a focal to patchy lymphocytic chronic inflammatory infiltrate and several non-encapsulated masses with clear boundaries that were easily distinguishable from the adjacent neurofibroma...
April 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29146575/lumacaftor-vx-809-restores-the-ability-of-cf-macrophages-to-phagocytose-and-kill-pseudomonas-aeruginosa
#18
Roxanna Barnaby, Katja Koeppen, Amanda Nymon, Thomas H Hampton, Brent Berwin, Alix Ashare, Bruce Stanton
Cystic Fibrosis (CF), the most common lethal genetic disease in Caucasians, is characterized by chronic bacterial lung infection and excessive inflammation, which leads to progressive loss of lung function, and premature death. Although ivacaftor (VX-770) and the combination of ivacaftor and lumacaftor (VX-809) improve lung function in CF patients with the Gly551Asp and del508Phe mutation, respectively, the effects of these drugs on the function of human CF macrophages are unknown. Thus, studies were conducted to examine the effects of lumacaftor alone and in combination with ivacaftor (i...
November 16, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29145572/difference-in-clinical-course-genetics-and-the-microbiome-between-familial-and-sporadic-inflammatory-bowel-diseases
#19
Nienke Z Borren, Grace Conway, John J Garber, Hamed Khalili, Shrish Budree, Himel Mallick, Vijay Yajnik, Ramnik J Xavier, Ashwin N Ananthakrishnan
Objective: Family history is the strongest risk factor for developing Crohn's disease (CD) or ulcerative colitis (UC). We investigated whether the proximity of relationship with the affected relative and concordance for type of IBD modifies the effect of family history on phenotype and disease severity. Design: This cross-sectional study included patients with a confirmed diagnosis of IBD in a clinical registry. Family history of IBD was assessed by a questionnaire ascertaining presence of disease in a 1 st degree, 2 nd degree or a distant relative...
November 14, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29142473/genetic-associations-with-adverse-events-from-anti-tumor-necrosis-factor-therapy-in-inflammatory-bowel-disease-patients
#20
Daniel Lew, Soon Man Yoon, Xiaofei Yan, Lori Robbins, Talin Haritunians, Zhenqiu Liu, Dalin Li, Dermot Pb McGovern
AIM: To study the type and frequency of adverse events associated with anti-tumor necrosis factor (TNF) therapy and evaluate for any serologic and genetic associations. METHODS: This study was a retrospective review of patients attending the inflammatory bowel disease (IBD) centers at Cedars-Sinai IBD Center from 2005-2016. Adverse events were identified via chart review. IBD serologies were measured by ELISA. DNA samples were genotyped at Cedars-Sinai using Illumina Infinium Immunochipv1 array per manufacturer's protocol...
October 28, 2017: World Journal of Gastroenterology: WJG
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