Abstracts tagged "Gene Expression"

Abstract Number: 102 • 2018 ACR/ARHP Annual Meeting
Estrogen Controls the Expression of Serine Arginine-Rich Splicing Factor 1 (SRSF1) in Human T Lymphocytes Via Transcriptional and Post-Transcriptional Mechanisms
Julian F. Oviedo¹, Elena N. Cravens¹ and Vaishali R. Moulton^2,3, ¹Beth Israel Deaconess Medical Center, Harvard Medical School, Medicine/Rheumatology, Boston, MA, ²Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, ³Division of Rheumatology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic debilitating autoimmune disease that primarily afflicts women in the childbearing years. Female hormones especially estrogen are implicated…
Abstract Number: 1472 • 2018 ACR/ARHP Annual Meeting
Preliminary Analysis of Genetic Variants in the Immune System Related to the Body Mass Index in Early Arthritis Patients
Pablo Moreno Fresneda¹, Nuria Montes², Javier Martin³, David Carmona⁴, Carmen Martinez⁵, Rosa P Gomariz⁶, Amalia Lamana², Ana Triguero-Martinez⁷, Ana M. Ortiz Garcia⁸ and Isidoro Gonzalez-Alvaro⁹, ¹Rheumatology Division, Hospital Universitario La Princesa, IIS-IP, Madrid, Spain, ²Rheumatology, HU La Princesa, Madrid, Spain, ³Instituto de Parasitología y Biomedicina López Neyra, Granada, Spain, ⁴Genetics, Universidad de Granada, Granada, Spain, ⁵Cellular Biology, School of Medicine. Universidad Complutense de Madrid, Madrid, Spain, ⁶Cellular Biology, School of Biology. Universidad Complutense de Madrid, Madrid, Spain, ⁷Rheumatology Service, Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa, Madrid, Spain, ⁸Rheumatology, Rheumatology Service, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ⁹Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain
Background/Purpose: We have observed in previous analyzes in our early arthritis (EA) cohort that patients with a higher body mass index (BMI) are, more frequently,…
Abstract Number: 2113 • 2018 ACR/ARHP Annual Meeting
Identification of RNASE2 As a Novel Lupus Candidate Gene
Yang Xu, Xiaojun Tang and Xuebing Feng, Department of Rheumatology, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China
Background/Purpose: Although many factors have been implicated to be involved in the development of systemic lupus erythematosus (SLE), the pathogenesis of this prototypical autoimmune disease…
Abstract Number: 112 • 2018 ACR/ARHP Annual Meeting
Evidence for Altered Peroxisome Proliferator Activated Receptor (PPAR) Pathway Activity in a Transgenic Mouse Model of Scleroderma (TβRIIΔk-fib): Analysis of Mouse Skin, Lung and Explanted Cells
Emma C. Derrett-Smith^1,2, Shiwen Xu¹, Rachel K. Hoyles³, Olivier Lacombe⁴, Pierre Broqua⁴, Jean-Louis Junien⁴, Irena Konstantinova⁵ and Christopher P. Denton^6,7, ¹Division of Medicine, University College London, London, United Kingdom, ²Rheumatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom, ³Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom, ⁴Inventiva, DAIX, France, ⁵Inventiva, Daix, France, ⁶UCL Division of Medicine, Royal Free Campus, London, United Kingdom, ⁷Division of Medicine, Centre for Rheumatology and Connective Tissue Disease, University College London, London, United Kingdom
Background/Purpose: The TβRIIΔk-fib transgenic (TG) mouse model of scleroderma carries a fibroblast-specific TGFβ receptor II mutation resulting in balanced up-regulation of TGFβ signalling and replicates…
Abstract Number: 1571 • 2018 ACR/ARHP Annual Meeting
RNA Sequencing Detection of Gene Dysregulation in Epithelial Cells Sorted from Salivary Gland Tissue Reveals Interesting Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology
Elodie Rivière^1,2, Nicolas Tchitchek¹, Gaetane Nocturne^1,3, Juliette Pascaud¹, Alexandre Virone¹, Saida Boudaoud¹, Alice Thai⁴, Normand Allaire⁴, Bernd Jagla⁵, Michael Mingueneau⁴ and Xavier Mariette^1,3, ¹Immunology of viral Infections and Autoimmune Diseases, IDMIT, CEA - Université Paris Sud - INSERM U1184, Le Kremlin Bicêtre & Fontenay aux Roses, France, ²Arthritis Fondation Courtin, Paris, France, ³Rheumatology, Université Paris Sud, Le Kremlin Bicêtre, France, ⁴Immunology Research, Biogen, Cambridge, MA, ⁵Biomarker Discovery Platform UTechS CB, Hub de Bioinformatique et biostatistique C3IB, Institut Pasteur, Paris, France
Background/Purpose: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Several lines of evidence support…
Abstract Number: 2130 • 2018 ACR/ARHP Annual Meeting
Interferon Induced Gene Transcripts Are Differentially Upregulated in the Kidney of Lupus Nephritis Patients Irrespective of Activity or Damage
S. Sam Lim¹, Alton B Farris¹, Tobias Guennel², Shiliang Wang³, Jason Cobb¹, Dominic Sinibaldi⁴, Scott Jenks¹, Ignacio Sanz¹, Xiang Guo³, Gabor Illei⁵, Kui Shen², Monica Battle¹, Chungwen Wei¹ and WI White³, ¹Emory University School of Medicine, Atlanta, GA, ²Precision for Medicine, Frederick, MD, ³MedImmune, Gaithersburg, MD, ⁴MedImmune, Gaithersberg, MD, ⁵Viela Bio, Gaithersburg, USA, Gaithersberg, MD
Background/Purpose: Lupus nephritis (LN) afflicts 12-69% lupus patients. Even with the best available therapies, complete response is achieved in only 10-85% of patients. The risk…
Abstract Number: 125 • 2018 ACR/ARHP Annual Meeting
Monocyte Transcriptome Delineates SSc Patients with Functionally Distinct Patterns of Gene Dysregulation That Persist through Differentiation
Julia L.M. Dunn¹, Philip J. Homan², Salina Dominguez¹, Carla M. Cuda¹, Kathleen Aren³, Mary A. Carns^3,4, Tracy M. Frech⁵, Dinesh Khanna⁶, Shervin Assassi⁷, Harris Perlman¹, Monique Hinchcliff¹ and Deborah R. Winter¹, ¹Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ²Division of Rheumatology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, ³Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ⁴Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Division of Rheumatology, University of Utah, Salt Lake City, UT, ⁶Division of Rheumatology, University of Michigan, Ann Arbor, MI, ⁷Rheumatology, University of Texas Health Science Center at Houston, Houston, TX
Background/Purpose: The etiology and pathogenesis of SSc are poorly understood; however, an increasing body of evidence supports an early inflammatory phase that precedes, and may…
Abstract Number: 1665 • 2018 ACR/ARHP Annual Meeting
Longitudinal Stratification of Gene Expression Reveals Three SLE Groups of Disease Activity Progression
Daniel Toro¹, Jordi Martorell-Marugán², Daniel Goldman³, Michelle Petri⁴, Pedro Carmona Sanz⁵ and Marta Alarcón-Riquelme^6,7, ¹Bioinformatics and Medical Genomics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Ganada, Spain, ²Bioinformatics Unit, Center for Genomics and Oncological Research (GENYO), Granada, Spain, ³Medicine (Rheumatology), Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Johns Hopkins University School of Medicine, Baltimore, MD, ⁵Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, ⁶Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, ⁷Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain
Background/Purpose: The highly heterogeneous clinical presentation of lupus is characterized by the unpredictable appearance of flares of disease activity and important organ damage. Attempts to…
Abstract Number: 2238 • 2018 ACR/ARHP Annual Meeting
Non-Coding Urate-Associated Variants Function in a Conserved Lincrna Regulatory Domain That Alters MAF transcription
Megan Leask¹, Tony R. Merriman¹, Amy Dowdle¹, Hamish Salvesen¹, Ruth Topless¹, Tayaza Fadason², Wenhua Wei¹, William Schierding², Justin O'Sullivan² and Julia Horsfield¹, ¹University of Otago, Dunedin, New Zealand, ²University of Auckland, Auckland, New Zealand
Background/Purpose: Genome-wide association studies (GWAS) have revealed that the large majority of disease-associated single nucleotide polymorphisms (SNPs) are located in the non-coding regions of the…
Abstract Number: 167 • 2017 ACR/ARHP Annual Meeting
Differentially Co-Expressed Gene Networks in Previously DMARD-Naïve Patients with Early RA Achieving Sustained Drug-Free Remission after Step-up Methotrexate Therapy
Xavier M Teitsma¹, Johannes WG Jacobs¹, Michal Mokry², Attila Pethö-Schramm³, Michelle EA Borm⁴, Jacob M. van Laar⁵, Johannes W.J. Bijlsma⁶ and Floris PJ Lafeber⁵, ¹Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²Division of Pediatrics, University Medical Center Utrecht, Utrecht, Netherlands, ³F. Hoffmann-La Roche, Basel, Switzerland, ⁴Beneluxlaan 2a, Roche Nederland BV, Woerden, Netherlands, ⁵Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ⁶Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: According to current standards, methotrexate (MTX) is an anchor drug in the treatment of rheumatoid arthritis (RA) and should be used in the initial…
Abstract Number: 1209 • 2017 ACR/ARHP Annual Meeting
Phospholipase A2 Group 5 Is a Potential Therapeutic Target for Osteoarthritis Treatment
Ming Liu¹, Andrew Furey², Weidong Zhang³, Sergei Likhodi², Edward Randell², Proton Rahman⁴ and Guangju Zhai², ¹Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, NF, Canada, ²Memorial University of Newfoundland, St. John's, NF, Canada, ³Jilin University, Changchun, China, ⁴Rheumatology, St Claires Mercy Hospital, St Johns, NF, Canada
Background/Purpose: We recently discovered that lysophosphotidylcholines (lysoPCs) to phosphotidylcholines (PCs) ratio was associated with knee osteoarthritis (OA), suggesting that the conversion of PCs to lysoPCs…
Abstract Number: 2342 • 2017 ACR/ARHP Annual Meeting
Transcriptomic Analysis Reveals Mitochondrial and Monocyte Dysfunctions Are Linked to the Interferonopathy of Juvenile Dermatomyositis
Claire Deakin¹, Elizabeth Rosser¹, Lucy Marshall¹, Meredyth Wilkinson², Aziza Khabbush³, Stefania Simou¹, Georg Otto³, Stefanie Dowle³, Daniel Kelberman³, Simon Yona², Simon Eaton³ and Lucy R Wedderburn¹, ¹Infection, Immunity and Inflammation Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom, ²Division of Medicine, University College London, London, United Kingdom, ³Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom
Background/Purpose: Although type I interferon (IFN1) and endoplasmic reticulum (ER) stress have been implicated in pathogenesis of juvenile dermatomyositis (JDM), little else is known about…
Abstract Number: 174 • 2017 ACR/ARHP Annual Meeting
Transcriptional Profiling of Synovial Macrophages from RA Patients to Capture Disease Heterogeneity
Philip J. Homan¹, Arthur M. Mandelin II², Salina Dominguez¹, Emily Bacalao³, S. Louis Bridges Jr.⁴, Joan M. Bathon⁵, John Atkinson⁶, David Fox⁷, Eric L. Matteson⁸, Chris Buckley⁹, Costantino Pitzalis¹⁰, Deborah Parks¹¹, Laura Hughes¹², Laura Geraldino-Pardilla¹³, Robert Ike¹⁴, Kristine Phillips¹⁵, Kerry Wright¹⁶, Andrew Filer¹⁷, Stephen Kelly¹⁸, Eric M. Ruderman¹⁹, Carla Cuda¹, Hiam Abdala-Valencia³, Alexander Misharin³, G. R. Scott Budinger³, Richard M. Pope¹⁹, Harris Perlman²⁰ and Deborah R. WInter¹, ¹Department of Medicine Division of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ²Rheumatology, Northwestern University, Chicago, IL, ³Northwestern University, Chicago, IL, ⁴Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL, ⁵Division of Rheumatology, Columbia University Medical Center, New York, NY, ⁶Washington University in St. Louis, St. Louis, MO, ⁷Department of Medicine [Division of Rheumatology], University of Michigan Medical System, Ann Arbor, MI, ⁸Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, ⁹University of Birmingham, Birmingham, United Kingdom, ¹⁰Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ¹¹Washington University School of Medicine in St. Louis, St. Louis, MO, ¹²University Alabama Birmingham, Birmingham, AL, ¹³Columbia University, New york, NY, ¹⁴Division of Rheumatology, University of Michigan, Ann Arbor, MI, ¹⁵University of Michigan, Ann Arbor, MI, ¹⁶Rheumatology, Mayo Clinic, Rochester, MN, ¹⁷Institute of Inflammation and Ageing (IIA), University of Birmingham, Birmingham, United Kingdom, ¹⁸William Harvey Research Institute, London, United Kingdom, ¹⁹Medicine/Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL, ²⁰Department of Medicine, Division of Rheumatology, Northwestern University Feinberg School of Medicine, Northwestern University Feinberg School of Medicine,, Chicago, IL
Background/Purpose: In a given patient with rheumatoid arthritis (RA), it is difficult to predict disease progression or identify to which treatments they will respond. Macrophages…
Abstract Number: 1330 • 2017 ACR/ARHP Annual Meeting
Rhesus Theta Defensin 1 (RTD-1) Suppresses Disease-Associated Genes and Induces Anti-Inflammatory Expression Signature in Synovial Tissues of Rat Model of Rheumatoid Arthritis
Prasad Tongaonkar¹, Vasu Punj², Akshay Subramanian³, Dat Tran³, Katie Trinh⁴, Justin Schaal¹, Percio S. Gulko⁵, Andre Oullette³ and Michael Selsted³, ¹Pathology and Laboratory Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, ²Medicine, Keck School of Medicine University of Southern California, Los Angeles, CA, ³Keck School of Medicine University of Southern California, Los Angeles, CA, ⁴Pathology, Keck School of Medicine University of Southern California, Los Angeles, CA, ⁵Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY
Background/Purpose: Theta (θ) defensins are the only known macrocyclic peptides found in the Animal kingdom and are exclusively expressed in Old World monkeys. θ-defensins were…
Abstract Number: 2347 • 2017 ACR/ARHP Annual Meeting
High Interferon (IFN) Signatures and Overlapping Clinical Features Characterize Subgroups of Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle¹, Scott Canna³, Stephen R. Brooks⁴, Hanna Kim⁵, Gina A. Montealegre Sanchez¹, Rachel VanTries¹, Angélique Biancotto⁶, Samantha Dill⁵, Dawn C. Chapelle⁵, Bernadette Marrero¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Richard King Mellon Foundation Institute for Pediatric Research, Children's Hospital of Pittsburgh, Pittsburrgh, PA, ⁴Biodata Mining and Discovery Section, Office of Science and Technology, NIAMS/NIH, Bethesda, MD, ⁵Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁶Center for Human Immunology, Autoimmunity and Inflammation (CHI), NHLBI, NIH, Bethesda, MD
Background/Purpose: Many pediatric patients (pts.) with early-onset autoinflammatory disease (AID) phenotypes are mutation-negative for genetically known AIDs. Recent data suggest a role for Type-I interferon…

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