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Inflammatory disease genetics

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https://www.readbyqxmd.com/read/28938189/the-potent-suppressive-effect-of-%C3%AE-d-mannuronic-acid-m2000-on-molecular-expression-of-the-tlr-nf-kb-signaling-pathway-in-ankylosing-spondylitis-patients
#1
Maryam Roozbehkia, Mahdi Mahmoudi, Somaye Aletaha, Nima Rezaei, Mohammad Javad Fattahi, Fahimeh Jafarnezhad-Ansariha, Anis Barati, Abbas Mirshafiey
Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease characterized by the inflammation of sacroiliac joints and axial skeleton. A combination of genetic, environmental and immunological factors are involved in AS's pathogenesis. TLRs are type I transmembrane glycoproteins that play a crucial role in the innate immune responses against invading pathogens. Observational studies have demonstrated a possible association between TLR dysregulation and AS. The β-d-mannuronic acid (M2000), as a novel NSAID with immunosuppressive property, has shown an inhibitory effect on Toll-like receptor (TLR) 2, 4 signaling in HEK293 cells...
September 19, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28936366/constitutive-and-stress-induced-expression-of-ccl5-machinery-in-rodent-retina
#2
D'Anne S Duncan, William M McLaughlin, Noah Vasilakes, Franklin D Echevarria, Cathryn R Formichella, Rebecca M Sappington
Signaling by inflammatory cytokines and chemokines is associated with neurodegeneration in disease and injury. Here we examined expression of the β-chemokine CCL5 and its receptors in the mouse retina and evaluated its relevance in glaucoma, a common optic neuropathy associated with sensitivity to intraocular pressure (IOP). Using quantitative PCR, fluorescent in situ hybridization, immunohistochemistry and quantitative image analysis, we found CCL5 mRNA and protein was constitutively expressed in the inner retina and synaptic layers...
June 2017: Journal of Clinical & Cellular Immunology
https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#3
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28934791/a-practical-guide-for-treatment-of-pain-in-patients-with-systemic-mast-cell-activation-disease
#4
Stefan Wirz, Gerhard J Molderings
Systemic mast cell activation disease (MCAD, a subclass of mastocytosis), which has a prevalence of around 17% (at least in the German population), is characterized by accumulation of genetically altered dysfunctional mast cells with abnormal release of these cells' mediators. Since mast cells affect functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing, this disease has to be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity of a generally inflammatory and allergic theme...
September 2017: Pain Physician
https://www.readbyqxmd.com/read/28934123/the-innate-and-adaptive-immune-system-as-targets-for-biologic-therapies-in-inflammatory-bowel-disease
#5
REVIEW
Grainne Holleran, Loris Lopetuso, Valentina Petito, Cristina Graziani, Gianluca Ianiro, Deirdre McNamara, Antonio Gasbarrini, Franco Scaldaferri
Inflammatory bowel disease (IBD) is an immune-mediated inflammatory condition causing inflammation of gastrointestinal and systemic cells, with an increasing prevalence worldwide. Many factors are known to trigger and maintain inflammation in IBD including the innate and adaptive immune systems, genetics, the gastrointestinal microbiome and several environmental factors. Our knowledge of the involvement of the immune system in the pathophysiology of IBD has advanced rapidly over the last two decades, leading to the development of several immune-targeted treatments with a biological source, known as biologic agents...
September 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#6
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28933291/pharmacotranscriptomic-biomarkers-in-glucocorticoid-treatment-of-pediatric-inflammatory-bowel-disease
#7
Marianna Lucafò, Biljana Stankovic, Nikola Kotur, Alessia Di Silvestre, Stefano Martelossi, Alessandro Ventura, Branka Zukic, Sonya Pavlovic, Giuliana Decorti
Pharmacotranscriptomics aims to reach more accurate drug dosing based on interindividual transcriptome variations. Here, we provide an overview of RNA biomarkers that could predict the response to glucocorticoids (GCs), considered the standard for treatment of inflammatory bowel diseases (IBD), both in adult and pediatric patients. Although new biological agents are very effective in the IBD treatment, GCs are still widely used for induction of remission in IBD patients with moderate to severe disease. It is important to identify patients that are poor responders to GCs therapy, because suboptimal response is frequent and associated with various side effects...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28932402/comparative-study-of-sickle-cell-anemia-and-hemoglobin-sc-disease-clinical-characterization-laboratory-biomarkers-and-genetic-profiles
#8
Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
BACKGROUND: In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes. METHODS: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the β(S)-globin gene haplotypes and the 3...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28932336/genetics-in-keratoconus-what-is-new
#9
Sarah Moussa, Günther Grabner, Josef Ruckhofer, Marie Dietrich, Herbert Reitsamer
BACKGROUND: Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease. CONCLUSION: The review focuses on current knowledge of these genetic risk factors associated with keratoconus...
2017: Open Ophthalmology Journal
https://www.readbyqxmd.com/read/28932075/role-of-tissue-microenvironment-resident-adipocytes-in-colon-cancer
#10
EDITORIAL
Maria Tabuso, Shervanthi Homer-Vanniasinkam, Raghu Adya, Ramesh P Arasaradnam
Colorectal cancer (CRC) is a multifactorial disease characterized by several genetic and epigenetic alterations occurring in epithelial cells. It is increasingly recognized that tumour progression is also regulated by tumour microenvironment (TME). The bidirectional cross-talk between tumour resident adipocytes and cancer cells within TME has been proposed as active contributor to carcinogenesis. Tumour resident adipocytes exhibit an activated phenotype characterized by increased secretion of pro-tumorigenic factors (angiogenic/inflammatory/immune) which contribute to cancer cell proliferation, invasion, neoangiogenesis, evasion of immune surveillance and therapy resistance...
August 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28930861/targeted-gene-panel-sequencing-for-early-onset-inflammatory-bowel-disease-and-chronic-diarrhea
#11
Britt-Sabina Petersen, Dietrich August, Renate Abt, Moudjahed Alddafari, Lida Atarod, Safa Baris, Hemant Bhavsar, Florian Brinkert, Mary Buchta, Alla Bulashevska, Ronnie Chee, Ana I Cordeiro, Naghi Dara, Gregor Dückers, Aisha Elmarsafy, Natalie Frede, Nermeen Galal, Patrick Gerner, Erik-Oliver Glocker, Sigune Goldacker, Jutta Hammermann, Peter Hasselblatt, Zuzana Havlicekova, Katrin Hübscher, Milos Jesenak, Neslihan E Karaca, Elif Karakoc-Aydiner, Mahboubeh M Kharaghani, Sara S Kilic, Ayca Kiykim, Christoph Klein, Christian Klemann, Robin Kobbe, Daniel Kotlarz, Martin W Laass, T Ronan Leahy, Mehrnaz Mesdaghi, Sally Mitton, João F Neves, Birol Öztürk, Luis F Pereira, Jan Rohr, Jessica L R Restrepo, Gunda Ruzaike, Nadia Saleh, Suranjith Seneviratne, Ebru Senol, Carsten Speckmann, Daniel Tegtmeyer, Paul Thankam, Jutte van der Werff Ten Bosch, Horst von Bernuth, Sebastian Zeissig, Yvonne Zeissig, Andre Franke, Bodo Grimbacher
BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients...
September 19, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28928740/microbiome-derived-lipopolysaccharide-enriched-in-the-perinuclear-region-of-alzheimer-s-disease-brain
#12
Yuhai Zhao, Lin Cong, Vivian Jaber, Walter J Lukiw
Abundant clinical, epidemiological, imaging, genetic, molecular, and pathophysiological data together indicate that there occur an unusual inflammatory reaction and a disruption of the innate-immune signaling system in Alzheimer's disease (AD) brain. Despite many years of intense study, the origin and molecular mechanics of these AD-relevant pathogenic signals are still not well understood. Here, we provide evidence that an intensely pro-inflammatory bacterial lipopolysaccharide (LPS), part of a complex mixture of pro-inflammatory neurotoxins arising from abundant Gram-negative bacilli of the human gastrointestinal (GI) tract, are abundant in AD-affected brain neocortex and hippocampus...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28924454/detection-of-enterotoxigenic-bacteroides-fragilis-in-patients-with-ulcerative-colitis
#13
Samin Zamani, Sonia Hesam Shariati, Mohammad Reza Zali, Hamid Asadzadeh Aghdaei, Akram Sarabi Asiabar, Saied Bokaie, Bizhan Nomanpour, Leonardo Antonio Sechi, Mohammad Mehdi Feizabadi
PURPOSE: Ulcerative colitis (UC) as a type of inflammatory bowel disease (IBD), presumed to occur as a consequence of increased immune responses to intestinal microbiota in genetically susceptible individuals. Enterotoxigenic Bacteroides fragilis (ETBF) strains are important intestinal bacteria that can be involved in IBD. The aim of this study was to design a quantitative assay for detection of B. fragilis and ETBF and also to find their association with UC. METHODS: Ninety-five biopsies were collected from patients with UC (n = 35) and with no IBD (nIBD, n = 60)...
2017: Gut Pathogens
https://www.readbyqxmd.com/read/28924227/implication-of-the-glutamate-cystine-antiporter-xct-in-schizophrenia-cases-linked-to-impaired-gsh-synthesis
#14
M Fournier, A Monin, C Ferrari, P S Baumann, P Conus, K Do
xCT is the specific chain of the cystine/glutamate antiporter, which is widely reported to support anti-oxidant defenses in vivo. xCT is therefore at the crossroads between two processes that are involved in schizophrenia: oxidative stress and glutamatergic neurotransmission. But data from human studies implicating xCT in the illness and clarifying the upstream mechanisms of xCT imbalance are still scarce. Low glutathione (GSH) levels and genetic risk in GCLC (Glutamate-Cysteine Ligase Catalytic subunit), the gene of limiting synthesizing enzyme for GSH, are both associated with schizophrenia...
September 18, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28924012/inhibition-of-il-1%C3%AE-signaling-normalizes-nmda-dependent-neurotransmission-and-reduces-seizure-susceptibility-in-a-mouse-model-of-creutzfeldt-jakob-disease
#15
Ilaria Bertani, Valentina Iori, Massimo Trusel, Mattia Maroso, Claudia Foray, Susanna Mantovani, Raffaella Tonini, Annamaria Vezzani, Roberto Chiesa
Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disorder caused by prion protein (PrP) misfolding, clinically recognized by cognitive and motor deficits, electroencephalographic (EEG) abnormalities and seizures. Its neurophysiological bases are not known. To assess the potential involvement of N-methyl-D-aspartate receptor (NMDAR) dysfunction, we analyzed NMDA-dependent synaptic plasticity in hippocampal slices from Tg(CJD) mice, which model a genetic form of CJD. Because PrP depletion may result in functional upregulation of NMDARs, we also analyzed PrP knockout (KO) mice...
September 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28923927/mif-and-d-dt-are-potential-disease-severity-modifiers-in-male-ms-subjects
#16
Gil Benedek, Roberto Meza-Romero, Kelley Jordan, Ying Zhang, Ha Nguyen, Gail Kent, Jia Li, Edwin Siu, Jenny Frazer, Marta Piecychna, Xin Du, Antoine Sreih, Lin Leng, Jack Wiedrick, Stacy J Caillier, Halina Offner, Jorge R Oksenberg, Vijayshree Yadav, Dennis Bourdette, Richard Bucala, Arthur A Vandenbark
Little is known about mechanisms that drive the development of progressive multiple sclerosis (MS), although inflammatory factors, such as macrophage migration inhibitory factor (MIF), its homolog D-dopachrome tautomerase (D-DT), and their common receptor CD74 may contribute to disease worsening. Our findings demonstrate elevated MIF and D-DT levels in males with progressive disease compared with relapsing-remitting males (RRMS) and female MS subjects, with increased levels of CD74 in females vs. males with high MS disease severity...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923481/adam17-is-the-main-sheddase-for-the-generation-of-human-triggering-receptor-expressed-in-myeloid-cells-htrem2-ectodomain-and-cleaves-trem2-after-histidine-157
#17
Dominik Feuerbach, Patrick Schindler, Carmen Barske, Stefanie Joller, Edwige Beng-Louka, Katie A Worringer, Sravya Kommineni, Ajamete Kaykas, Daniel J Ho, Chaoyang Ye, Karl Welzenbach, Gaelle Elain, Laurent Klein, Irena Brzak, Anis K Mir, Christopher J Farady, Reiner Aichholz, Simone Popp, Nathalie George, Ulf Neumann
Triggering receptor expressed in myeloid cells (TREM2) is a member of the immunoglobulin superfamily and is expressed in macrophages, dendritic cells, microglia, and osteoclasts. TREM2 plays a role in phagocytosis, regulates release of cytokine, contributes to microglia maintenance, and its ectodomain is shed from the cell surface. Here, the question was addressed at which position sheddases cleave TREM2 and what are the proteases involved in this process. Using both pharmacological and genetic approaches we report that the main protease contributing to the release of TREM2 ectodomain is ADAM17, (a disintegrin and metalloproteinase domain containing protein, also called TACE, TNFα converting enzyme) while ADAM10 plays a minor role...
September 18, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28921458/pharmacogenetics-and-pharmacogenomics-in-moderate-to-severe-psoriasis
#18
REVIEW
María C Ovejero-Benito, Ester Muñoz-Aceituno, Alejandra Reolid, Miriam Saiz-Rodríguez, Francisco Abad-Santos, Esteban Daudén
Pharmacogenetics is the study of variations in DNA sequence related to drug response. Moreover, the evolution of biotechnology and the sequencing of human DNA have allowed the creation of pharmacogenomics, a branch of genetics that analyzes human genes, the RNAs and proteins encoded by them, and the inter-and intra-individual variations in expression and function in relation to drug response. Pharmacogenetics and pharmacogenomics are being used to search for biomarkers that can predict response to systemic treatments, including those for moderate-to-severe psoriasis...
September 18, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28920498/an-update-on-biomarker-discovery-and-use-in-axial-spondyloarthritis
#19
Walter P Maksymowych
Evaluation of diagnosis, disease activity, and risk for joint damage all represent important unmet clinical needs in the management of axial spondyloarthritis that have been explored using biomarkers. Areas Covered: This review used the search terms biomarkers, ankylosing spondylitis, spondyloarthritis, spondyloarthropathy, pathogenesis, genetics, diagnostic tools, prognosis, to explore advances in biomarker development relevant to unmet clinical needs. Expert Commentary: Despite major advances in the identification of genetic risk markers, HLA-B*27 remains the only marker with clinical utility for diagnostic purposes...
September 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28920098/the-il-1ri-co-receptor-tilrr-frem1%C3%A2-isoform-2-controls-aberrant-inflammatory-responses-and-development-of-vascular-disease
#20
Sarah A Smith, Andriy O Samokhin, Mabruka Alfadi, Emer C Murphy, David Rhodes, W Mike L Holcombe, Endre Kiss-Toth, Robert F Storey, Siu-Pok Yee, Sheila E Francis, Eva E Qwarnstrom
Expression of the interleukin-1 receptor type I (IL-1RI) co-receptor Toll-like and interleukin-1 receptor regulator (TILRR) is significantly increased in blood monocytes following myocardial infarction and in the atherosclerotic plaque, whereas levels in healthy tissue are low. TILRR association with IL-1RI at these sites causes aberrant activation of inflammatory genes, which underlie progression of cardiovascular disease. The authors show that genetic deletion of TILRR or antibody blocking of TILRR function reduces development of atherosclerotic plaques...
August 2017: JACC. Basic to Translational Science
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