Abstracts tagged "Gene Expression"

Abstract Number: 154 • 2018 ACR/ARHP Annual Meeting
Epigenetic Editing of FOXP3 in Human T Cells Is Sufficient to Induce Overexpression and Create a Regulatory T Cell Phenotype in Vitro
Christopher Dunn¹, Cassandra Velasco¹, Madison Andrews², Alexander Rivas³ and Matlock A. Jeffries⁴, ¹Rheumatology, Immunology, and Allergy, University of Oklahoma Health Sciences Center, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³University of Arkansas for Medical Sciences, Little Rock, AR, ⁴Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Defects in the number and function of naturally-occurring regulatory T cells (Tregs) have been identified in a variety of autoimmune diseases. The development of…
Abstract Number: 1718 • 2018 ACR/ARHP Annual Meeting
Skin Gene Expression Profiling Predicts Longitudinal Modified Rodnan Skin Score Change
Chase Correia¹, Mary A. Carns², Kathleen Aren², Monique Hinchcliff³ and J. Matthew Mahoney⁴, ¹Rheumatology, Northwestern Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, ³Rheumatology, Northwestern University, Chicago, IL, ⁴Neurological Sciences, University of Vermont College of Medicine, Burlington, VT
Background/Purpose: Systemic sclerosis (SSc) causes varying degrees of skin fibrosis with varying trajectory. Extent of skin involvement is measured by the modified Rodnan skin score…
Abstract Number: 2684 • 2018 ACR/ARHP Annual Meeting
Type I IFN, TLR7, MHC Class I, B Cell and OX40 Pathways Suppressed By Anifrolumab (anti-type I IFN receptor) in Moderate to Severe SLE Patients
Katie Streicher¹, Jixin Wang¹, Philip Z. Brohawn², Brandon W. Higgs², Raj Tummala³ and Koustubh Ranade⁴, ¹Translational Medicine, MedImmune, Gaithersburg, MD, ²MedImmune LLC, Gaithersburg, MD, ³MedImmune, Gaithersburg, MD, ⁴Translational Medicine, MedImmune LLC, Gaithersburg, MD
Background/Purpose: Type I interferon has been identified as one of the central mediators in the pathogenesis of SLE, such that patients are characterized by activation…
Abstract Number: 807 • 2018 ACR/ARHP Annual Meeting
The Effects of DNA Methylation on Differential Expression in Dermal Fibroblasts from African-American Patients with Systemic Sclerosis
DeAnna Baker Frost¹, Willian da Silveira², Ilia Atanelishvili³, Robert C. Wilson⁴, E. Starr Hazard², Jim C. Oates⁵, Galina S. Bogatkevich³, Carol A. Feghali-Bostwick⁶, Gary Hardiman⁷ and Paula S. Ramos⁸, ¹Medicine, Division of Rheumatology and Immunology, Medical University of South Carolina, Charleston, SC, ²Center for Genomic Medicine, Medical University of South Carolina, Charleston, SC, ³Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁴Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, ⁵Division of Rheumatology & Immunology, Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁶Department of Medicine, Medical University of South Carolina, Division of Rheumatology and Immunology, Charleston, SC, ⁷Department of Medicine, Medical University of South Carolina, Charleston, SC, ⁸Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC
Background/Purpose: The etiology and reasons underlying the ethnic disparities in systemic sclerosis (SSc) remain unknown. African-Americans (AA) are disproportionally affected by SSc, yet dramatically underrepresented…
Abstract Number: 1876 • 2018 ACR/ARHP Annual Meeting
Machine Learning Classification of Peripheral Blood Gene Expression Identifies a Subset of Patients with Systemic Sclerosis Most Likely to Show Clinical Improvement in Response to Hematopoietic Stem Cell Transplant
Jennifer Franks¹, Viktor Martyanov², Tammara A. Wood², Leslie Crofford³, Lynette Keyes-Elstein⁴, Daniel E. Furst⁵, Ellen Goldmuntz⁶, Maureen D. Mayes⁷, Peter McSweeney⁸, Richard Nash⁸, Keith Sullivan⁹ and Michael L. Whitfield¹⁰, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ⁴Rho, Inc, Chapel Hill, NC, ⁵University of California Los Angeles, Los Angeles, CA, ⁶NIAID, NIH, Bethesda, MD, ⁷Rheumatology, University of Texas McGovern Medical School, Houston, TX, ⁸Colorado Blood Cancer Institute, Denver, CO, ⁹Duke University Medical Center, Durham, NC, ¹⁰Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: The SCOT (Scleroderma: Cyclophosphamide or Transplantation) trial (Sullivan K. et al, 2018) demonstrated the clinical benefit of hematopoietic stem cell transplant (HSCT) compared to…
Abstract Number: 2933 • 2018 ACR/ARHP Annual Meeting
Non-Invasive Tape Sampling Reveals RNA Gene Clusters in Cutaneous Lupus Erythematosus That Discriminate Affected from Unaffected and Healthy Volunteer Skin
Joseph F. Merola¹, Wenting Wang², Carrie Wager³, Stefan Hamann², Xueli Zhang³, Alice Thai², Chris Roberts², Christina Lam⁴, Cristina Musselli², Galina Marsh², Dania Rabah², Catherine Barbey⁵, Nathalie Franchimont² and Taylor L. Reynolds², ¹Clinical Unit for Research Innovation & Trials, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Biogen, Cambridge, MA, ³Formerly of Biogen, Cambridge, MA, ⁴Boston University Medical School, Boston, MA, ⁵Biogen, Zug, Switzerland
Background/Purpose: Punch biopsy, the standard diagnostic and monitoring procedure for patients with cutaneous lupus erythematosus (CLE), impedes patient recruitment and follow up due to risk…
Abstract Number: 853 • 2018 ACR/ARHP Annual Meeting
Enhanced Type I Interferon Gene Signature in Primary Antiphospholipid Syndrome: Association with Earlier Disease Onset and Preeclampsia
Michelle Lopes¹, Giovana Torrezan², Ana Paula Gandara¹, Eloisa Olivieri³, Iana Nascimento¹, Erica Okazaki⁴, Eloisa Bonfa⁵, Dirce Carraro⁶ and Danieli Andrade¹, ¹Rheumatology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ²Genomics and Molecular Biology Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ³Macromolecules Laboratory, AC Camargo Cancer Center, São Paulo, Brazil, ⁴Hemathology, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁵Rheumatology Division, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil, ⁶Division of Genomic Diagnostics, AC Camargo Cancer Center, São Paulo, Brazil
Background/Purpose: Primary antiphospholipid syndrome (PAPS) is an autoimmune vasculopathy mediated by autoantibodies with thrombosis as its main clinical manifestation. The presence of antiphospholipid antibodies, while…
Abstract Number: 1894 • 2018 ACR/ARHP Annual Meeting
Baricitinib-Associated Changes in Type l Interferon Gene Signature during a 24-Week Phase-2 Clinical SLE Trial
Thomas Dörner¹, Yoshiya Tanaka², Michelle Petri³, Josef S. Smolen⁴, Ernst R. Dow⁵, Richard E. Higgs⁵, Robert J. Benschop⁵, Adam Abel⁵, Maria E. Silk⁵, Stephanie de Bono⁵ and Robert W. Hoffman⁵, ¹Charité Universitätsmedizin Berlin and Deutsches Rheuma-Forschungszentrum (DRFZ), Berlin, Germany, ²University of Occupational and Environmental Health, Kitakyushu, Japan, ³Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Division of Rheumatology, Department of Medicine 3, Medical University of Vienna, Vienna, Austria, ⁵Eli Lilly and Company, Indianapolis, IN
Background/Purpose: In the phase 2 study JAHH (NCT02708095), treatment with baricitinib (bari), an oral selective Janus kinase 1/2 inhibitor approved for the treatment of RA,…
Abstract Number: 856 • 2018 ACR/ARHP Annual Meeting
Integrated mRNA and microRNA Transcriptomes of Monocytes from Antiphospholipid Syndrome Patients Identifies Molecular Networks Related to Their Atherothrombotic Status. Modulatory Effects of In Vivo Ubiquinol Supplementation
Carlos Perez-Sanchez¹, Laura Pérez Sánchez², Alejandra Maria Patiño-Trives³, María Luque Tevar³, Luca Scudeler⁴, Alejandro Ibáñez-Costa³, Patricia Ruiz-Limon⁵, Yolanda Jiménez-Gómez¹, Ivan Arias de la Rosa⁶, Maria Carmen Abalos-Aguilera⁶, Pedro Segui⁷, Nuria Barbarroja¹, Jose Manuel Villalba⁸, Eduardo Collantes Estevez³, Maria Jose Cuadrado⁹, Maria Ángeles Aguirre Zamorano¹ and Chary Lopez-Pedrera³, ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ³IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁴Università degli Studi di Torino, Turin, Italy, ⁵Research Group of Endocrine Diseases, Research Laboratory. Biomedical Research Institute of Malaga (IBIMA).Virgen de la Victoria Universitary Hospital, Malaga, Spain., Málaga, MA, Spain, ⁶Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁷Radiology, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁸Departamento de Biologia Celular, Fisiologia e Inmunología, University of Córdoba, Cordoba, Spain, ⁹Clinica Universidad de Navarra, Madrid, Spain
Background/Purpose: 1. To characterize the mRNAs and microRNAs transcriptomes of monocytes, key immune cells in the atherothrombotic pathology of Antiphospholipid Syndrome patients (APS). 2. To…
Abstract Number: 1897 • 2018 ACR/ARHP Annual Meeting
Single Cell RNA Expression in Lupus Nephritis Comparing African-American and Caucasian Patients Identifies Differential Expression of Interferon Pathway
Andrea Fava¹, Yuji Zhang², Nir Hacohen³, Arnon Arazi⁴, Celine C. Berthier⁵, Deepak Rao⁶, Michael Brenner⁷, David Wofsy⁸, Anne Davidson⁹, Matthias Kretzler¹⁰, David Hildeman¹¹, E. Steve Woodle¹², Betty Diamond¹³ and Michelle Petri¹⁴, ¹Departement of Medicine - Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, ²Department of Epidemiology and Public Health, University of Maryland School of Medicine, Baltimore, MD, ³Harvard Medical School, Boston, MA, ⁴Broad Institute, Cambridge, MA, ⁵Nephrology, Division of Nephrology, University of Michigan Medical Center, Ann Arbor, MI, ⁶Human Immunology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁷Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁸Rheumatology, University of California, San Francisco, San Francisco, CA, ⁹Center for Autoimmunity, Musculoskeletal & Hematopoietic Diseases, Feinstein Institute for Medical Research, Manhasset, NY, ¹⁰Division of Nephrology, University of Michigan, Ann Arbor, MI, ¹¹University of Cincinnati, Cincinnati, OH, ¹²University of Cincinnati College of Medicine, Cincinnati, OH, ¹³The Feinstein Institute for Medical Research, Manhasset, NY, ¹⁴Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: African-American (AA) ethnicity is associated with a 3-fold higher risk of developing systemic lupus erythematosus (SLE). In addition, there is an increased risk of…
Abstract Number: 899 • 2018 ACR/ARHP Annual Meeting
Changes in the Systemic Sclerosis Molecular Signatures after Myeloablation Followed By Autologous Hematopoietic Stem Cell Transplantation and Their Clinical Correlates
Shervin Assassi¹, Xuan Wang², Jun Ying³, Lynette Keyes-Elstein⁴, Ellen Goldmuntz⁵, Jacob Turner⁶, Wenjin Zheng⁷, Guocai Chen⁷, Maria Virginia Pascual⁸, John Varga⁹, Monique Hinchcliff¹⁰, Chiara Bellocchi¹¹, Peter McSweeney¹², Daniel E. Furst¹³, Richard Nash¹², Leslie Crofford¹⁴, Beverly Welch¹⁵, Ashley Pinckney¹⁶, Maureen D. Mayes¹ and Keith Sullivan¹⁷, ¹Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ²Baylor Scott & White Health, Dallas, TX, ³Department of Internal Medicine - Rheumatology, University of Texas Health Science Center at Houston, Houston, TX, ⁴Rho, Inc, Chapel Hill, NC, ⁵NIAID, National Institutes of Health, Bethesda, MD, ⁶Stephen F Austin University, Nacogdoches, TX, ⁷University of Texas Health Science Center at Houston, Houston, TX, ⁸Drukier Institute for Children's Health, Weill Cornell Medicine, New York, NY, ⁹Northwestern University, Chicago, IL, ¹⁰Rheumatology, Northwestern University, Chicago, IL, ¹¹Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹²Colorado Blood Cancer Institute, Denver, CO, ¹³University of California Los Angeles, Los Angeles, CA, ¹⁴Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ¹⁵National Institutes of Health, Bethesda, MD, ¹⁶Rho Federal Systems, Inc., Chapel Hill, NC, ¹⁷Duke University Medical Center, Durham, NC
Background/Purpose: Myeloablation followed by autologous hematopoietic stem cell transplantation (HSCT) led to improved clinical outcomes compared to 12 monthly infusions of cyclophosphamide (CYC) in patients…
Abstract Number: 1903 • 2018 ACR/ARHP Annual Meeting
Molecular Analysis of a Skin Equivalent Tissue Culture Model System of Systemic Sclerosis Using RNA Sequencing, Epigenetic Assays, Histology, and Immunoassays
Diana M. Toledo¹, Mengqi Huang², Yue Wang², Bhaven K. Mehta², Tammara A. Wood³, Avi Smith⁴, Yolanda Nesbeth⁵, Irena Ivanovska⁶, Brock Christensen⁷, Patricia A. Pioli⁸, Jonathan Garlick⁴ and Michael L. Whitfield⁹, ¹Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Tufts University School of Medicine, Boston, MA, ⁵Celdara Medical, LLC, Lebanon, NH, ⁶Celdara Medical, LLC, Hanover, NH, ⁷Geisel School of Medicine at Dartmouth, Hanover, NH, ⁸Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁹Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: The molecular mechanisms of systemic sclerosis (SSc) have been difficult to study outside of patient samples. Mouse models often lack key features of the…
Abstract Number: 919 • 2018 ACR/ARHP Annual Meeting
A Machine Learning Classifier for Assigning Individual Patients with Systemic Sclerosis to Intrinsic Molecular Subsets
Jennifer Franks¹, Viktor Martyanov¹, Guoshuai Cai², Yue Wang³, Tammara A. Wood¹ and Michael L. Whitfield⁴, ¹Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Environmental Health Sciences, Arnold School of Public Health at University of South Carolina, Columbia, SC, ³Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: High-throughput gene expression profiling of skin biopsies from patients with systemic sclerosis (SSc) has identified four “intrinsic” gene expression subsets conserved across multiple cohorts…
Abstract Number: 1958 • 2018 ACR/ARHP Annual Meeting
Gene Expression Pathways across Multiple Tissues in Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Reveal Core Pathways of Disease Pathology
Marcia Friedman¹, Donseok Choi^1,2,3,4, Steven Planck^1,4, James T. Rosenbaum⁵ and Cailin Sibley¹, ¹Oregon Health & Science University, Portland, OR, ²OHSU-PSU School of Public Health, Portland, OR, ³Graduate School of Dentistry, Kyung Hee Universtiy, Seoul, Korea, Republic of (South), ⁴Casey Eye Institute, Portland, OR, ⁵Ophthalmology, Oregon Health & Science University and Legacy Devers Eye Institute, Portland, OR
Background/Purpose: In recent years, several studies have characterized the gene expression signatures of different tissues affected by ANCA-associated vasculitis (AAV). The purpose of this study…
Abstract Number: 921 • 2018 ACR/ARHP Annual Meeting
Multi-Omics Analysis Identifies a Gene Signature Associated with the Clinical Response to Anti-TNF Therapy in Rheumatoid Arthritis
Adrià Aterido¹, Jesús Tornero², Francisco J Blanco³, Benjamin Fernandez Gutierrez⁴, Antonio Gonzalez⁵, Juan D. Cañete⁶, Joan Maymó⁷, Mercedes Alperi-López⁸, Alejandro Olivé-Marqués⁹, Hector Corominas¹⁰, Víctor Martínez-Taboada¹¹, Isidoro Gonzalez-Alvaro¹², Antonio Fernandez-Nebro¹³, Alba Erra¹⁴, Simón Sánchez-Fernández¹⁵, María López-Lasanta¹, Mireia López-Corbeto¹, Raül Tortosa¹, Laia Codó¹⁶, Sara Marsal¹ and Antonio Julià¹, ¹Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ²Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, ³Rheumatology Department, INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ⁴Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain, ⁵Laboratorio Investigación 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain, ⁶Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, ⁷Rheumatology Department, Hospital del Mar, Barcelona, Spain, ⁸Department of Rheumatology, Hospital Universitario Central de Asturias, Asturias, Spain, ⁹Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁰Rheumatology, Hospital Universitari de la Santa Creu i Sant Pau, Barcelona, Spain, ¹¹Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ¹²Rheumatology Department, Hospital Universitario de La Princesa, IIS-IP, Madrid, Spain, ¹³UGC de Reumatología, Instituto de Investigación Biomédica de Málaga (IBIMA) Hospital Regional Universitario de Málaga Departamento de Medicina y Dermatología, Universidad de Málaga, MÁLAGA, Spain, ¹⁴Rheumatology Service, Hospital San Rafael, Barcelona, Spain, ¹⁵Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, ¹⁶Life Sciences Department, Barcelona Supercomputing Centre, Barcelona, Spain
Background/Purpose: Rheumatoid arthritis (RA) is the most common inflammatory arthritis affecting up to 1% of the population. Tumor Necrosis Factor (TNF) inhibitors have significantly improved…

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