Abstracts tagged "Gene Expression"

Abstract Number: 1053 • 2019 ACR/ARP Annual Meeting
Parallel Analysis of Systemic Sclerosis and Keloidal Morphea Skin Biopsies Delineates the Hallmark Profibrotic Gene Expression Profile for Scleroderma in Vivo
Kristina Clark¹, Corrado Campochiaro ¹, Nataliya Gak ¹, Emma Derrett-Smith ¹ and Christopher Denton ², ¹University College London, London, United Kingdom, ²University College London Division of Medicine, Centre for Rheumatology and Connective Tissue Diseases, London, UK, London, United Kingdom
Background/Purpose: We have examined whole skin biopsy gene expression by RNAseq in a rare subgroup of scleroderma with both systemic sclerosis (SSc) and concurrent keloidal…
Abstract Number: 1068 • 2019 ACR/ARP Annual Meeting
Classical Monocytes from African Ancestry Patients with Systemic Sclerosis Show Transcription and Energy Regulation Gene Expression Signatures
Paula Ramos¹, Willian da Silveira ², Jena Wirth ¹, Nathan Wilson ¹, Robert Wilson ¹, Jin Hyun Nam ¹, E. Starr Hazard ¹, Jim Oates ³, Melissa Cunningham ¹, Dongjun Chung ¹ and Gary Hardiman ², ¹Medical University of South Carolina, Charleston, ²Queen’s University, Belfast, United Kingdom, ³Division of Rheumatology & Immunology/Medical University of South Carolina, Charleston, SC
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disorder characterized by immune dysregulation, cutaneous and visceral fibrosis, and vasculopathy. It disproportionately affects African ancestry (AA)…
Abstract Number: 1290 • 2019 ACR/ARP Annual Meeting
Identification of Distinctive Interferon Gene Signatures in Different Types of Inflammatory Myopathy
Iago Pinal-Fernandez¹, Maria Casal-Dominguez ¹, Assia Derfoul ¹, Katherine Pak ¹, Paul Plotz ¹, Frederick W. Miller ², Jose C Milisenda ³, Josep M Grau-Junyent ³, Albert Selva-O'Callaghan ⁴, Julie Paik ⁵, Jemima Albayda ⁶, Lisa Christopher-Stine ⁷, Thomas E Lloyd ⁵, Andrea M Corse ⁵ and Andrew L Mammen ¹, ¹National Institutes of Health, Bethesda, ²NIEHS, NIH, Bethesda, MD, ³Clinic Hospital, Barcelona, ⁴Department of Systemic Autoimmune Diseases, Hospital Universitario Valle de Hebron, Barcelona, Spain, Barcelona, ⁵Johns Hopkins, Baltimore, ⁶Johns Hopkins University, Baltimore, MD, ⁷Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Activation of the type 1 interferon (IFN1) pathway is a prominent feature of dermatomyositis (DM) muscle and may play a role in the pathogenesis…
Abstract Number: 1094 • 2018 ACR/ARHP Annual Meeting
Endogenous Ifnβ Production Is Required for Efficient BCR Crosslinking and Survival of SLE B Cells
John D. Mountz¹, Shanrun Liu², PingAr Yang³, Qi Wu⁴, Bao Luo⁵, W. Winn Chatham⁶ and Hui-Chen Hsu⁴, ¹University of Alabama at Birmingham and Birmingham VA Medical center, Birmingham, AL, ²Biochemistry & Molecular Genetics, University of Alabama at Birmingham, Birmingham, AL, ³Department of Medicine, Clinical Immunology & Rheumatology, University of Alabama at Birmingham, Birmingham, AL, ⁴Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁵Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, ⁶Medcine/Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Increased type I interferon (IFN) has been shown to affect survival and activation of B cells in SLE. This study investigated novel mechanisms of…
Abstract Number: 1978 • 2018 ACR/ARHP Annual Meeting
Genome Wide Association Studies in SLE Predict E-Genes and Gene Expression Patterns That Inform Ancestral-Specific Molecular Pathways and Targeted Therapies
Katherine Owen¹, Carl Langefeld², Bryce Aidukaitis¹, Adam Labonte¹, Michelle Catalina¹, Prathyusha Bachali¹, Timothy D Howard³, Amrie Grammer¹ and Peter E. Lipsky¹, ¹AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA, ²Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC, ³Center for Genomics and Personalized Medicine Research, Wake Forest University School of Medicine, Winston-Salem, NC
Background/Purpose: Systemic lupus erythematosus (SLE) is a multi-organ autoimmune disorder with an important genetic component. Genome-wide association studies (GWAS) have linked many single nucleotide polymorphisms…
Abstract Number: 1102 • 2018 ACR/ARHP Annual Meeting
Multi-Organ RNA-Sequencing of Patients with Systemic Sclerosis (SSc) Finds That Intrinsic Subsets Are Conserved across Organ Systems
Bhaven K. Mehta¹, Jennifer Franks², Yue Wang¹, Guoshuai Cai², Diana M. Toledo³, Tammara A. Wood², Kimberly A. Archambault¹, Noelle Kosarek¹, Kathleen D. Kolstad⁴, Marianna Stark⁵, Antonia Valenzuela⁶, David Fiorentino⁷, Nielsen Fernandez-Becker⁸, Laren Becker⁸, Linda Nguyen⁹, John Clarke¹⁰, Francesco Boin¹¹, Paul Wolters¹², Lorinda Chung¹³ and Michael L. Whitfield¹⁴, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Rheumatology, Stanford University Medical Center, Stanford, CA, ⁵Stanford University, Stanford, CA, ⁶Immunology and Rheumatology, Stanford University, Palo Alto, CA, ⁷Dermatology, Stanford University School of Medicine, Stanford, CA, ⁸Gastroenterology, Stanford University School of Medicine, Palo Alto, CA, ⁹Gastroenterology & Hepatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁰Gastroenterology, Stanford University School of Medicine, Stanford, CA, ¹¹Rheumatology, University California, San Francisco, San Francisco, CA, ¹²Pulmonary Division, Department of Medicine, University of California, San Francisco, San Francisco, CA, ¹³Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, ¹⁴Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Internal organ involvement is the primary cause of morbidity and mortality in systemic sclerosis (SSc). Here we tested the hypothesis generated from a meta-analysis…
Abstract Number: 2014 • 2018 ACR/ARHP Annual Meeting
Next Generation Sequencing Analysis of Familial Haemophagocytic Lymphohistiocytosis (HLH) Related Genes in Macrophage Activation Syndrome (MAS) and Secondary HLH (sHLH)
Chiara Passarelli¹, Manuela Pardeo², Ivan Caiello³, Elisa Pisaneschi¹, Antonella Insalaco², Francesca Minoia⁴, Andrea Taddio⁵, Francesco Licciardi⁶, Antonio Novelli¹, Fabrizio De Benedetti⁷ and Claudia Bracaglia², ¹Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ³Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ⁴Reumatologia Pediatrica, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁵Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", University of Trieste, Trieste, Italy, ⁶SCDU Pediatria II, Immunoreumatologia, Ospedale Pediatrico Regina Margherita, Turin, Italy, ⁷IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
Background/Purpose: Macrophage activation syndrome (MAS), a severe complication of pediatric rheumatic disease, is currently classified among the secondary forms of HLH (sHLH). Primary HLH (pHLH)…
Abstract Number: 1109 • 2018 ACR/ARHP Annual Meeting
Gene Expressions of TMEM176A and TMEM176B Were Prominent at the Stage of Subclinical Pulmonary Vascular Disease in Systemic Sclerosis
Yoshinobu Koyama¹, Soichiro Fuke², Takashi Ohno³, Yoshiharu Sato⁴ and Toshie Higuchi¹, ¹Center for Autoimmune Diseases, Division of Rheumatology, Japan Red Cross Okayama Hospital, Okayama, Japan, ²Department of Cardiology, Japan Red Cross Okayama Hospital, Okayama, Japan, ³Management of medical safety, Okayama University Hospital, Okayama, Japan, ⁴DNA Chip Research Inc, Tokyo, Japan
Background/Purpose: Pulmonary arterial hypertension (PAH) is prominent as a vascular involvement of systemic sclerosis (SSc), which remains a leading cause of death in spite of…
Abstract Number: 2023 • 2018 ACR/ARHP Annual Meeting
Different Patterns of Interferon-Response-Gene Expression May Elucidate Different Pathomechanisms That Drive IFN-Response-Gene Activation in Patients with Presumed IFN-Mediated Autoinflammatory Diseases
Adriana Almeida de Jesus¹, Yanfeng Hou², Louise Malle³, Scott Canna⁴, Gina A. Montealegre Sanchez¹, Hanna Kim⁵, Rachel VanTries¹, Seza Ozen⁶, Samantha Dill⁷, Dawn C. Chapelle⁷, Bernadette Marrero¹, Yan Huang¹, Angelique Biancotto⁸ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Rheumatology, Shandong Provincial Qianfoshan Hospital, Shandong University, Shandong, China, ³Icahn School of Medicine at Mount Sinai, New York, NY, ⁴RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA, ⁵Pediatric Translational Research Branch, NIAMS, NIH, Bethesda, MD, ⁶Hacettepe University Vasculitis Center (HUVAC), Ankara, Turkey, ⁷Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, ⁸Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD
Background/Purpose: Many infants and children with early-onset autoinflammatory diseases are mutation-negative for genetically known autoinflammatory diseases. Recent data suggest a role for Type-I interferon dysregulation…
Abstract Number: 1118 • 2018 ACR/ARHP Annual Meeting
Identification of Transcriptional Regulatory Networks in Systemic Sclerosis
Yue Wang¹, Jennifer Franks² and Michael L. Whitfield³, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic sclerosis (SSc) is a heterogeneous autoimmune disorder with poor outcomes and no FDA-approved therapies. Prior work has shown gene expression patterns associated with…
Abstract Number: 2024 • 2018 ACR/ARHP Annual Meeting
Comparison of B and T Cell Subsets, Cytokine Expression and Synovial Pathology in Down’s Arthritis (DA) and Juvenile Idiopathic Arthritis (JIA)
Charlene Foley¹, Achilleas Floudas², Mary Canavan², Monika Biniecka², Emma-Jane MacDermott³, Orla G Killeen³, Ronan Mullan⁴ and Ursula Fearon⁵, ¹Our Lady's Children's Hospital Crumlin, National Centre for Paediatric Rheumatology, Dublin, Ireland, ²Trinity Biomedical Sciences Institute, Dublin, Ireland, ³National Centre for Paediatric Rheumatology, Dublin, Ireland, ⁴Rheumatology, Tallaght Hospital, Dublin, Ireland, ⁵Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland
Background/Purpose: Down syndrome (DS) is a common chromosomal disorder associated with a range of medical & immune abnormalities e.g. increased susceptibility to infections & a…
Abstract Number: 7 • 2018 ACR/ARHP Annual Meeting
RNA Sequencing Detection of Gene Dysregulation in B Cells Sorted from Salivary Gland Tissue and from Peripheral Blood Reveals New Pathways Involved in Primary Sjögren’s Syndrome Pathophysiology
Elodie Rivière^1,2, Nicolas Tchitchek¹, Gaetane Nocturne^1,3, Juliette Pascaud¹, 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 auto-immune disorder characterized by lymphocytic infiltrates and destruction of the salivary glands. Chronic B cell activation, the…
Abstract Number: 1121 • 2018 ACR/ARHP Annual Meeting
Characterizing the T Cell Receptor Repertoire in Patients with Systemic Sclerosis
Jennifer Franks¹, Yue Wang², Rajan Bhandari³, Diana M. Toledo⁴, Bhaven K. Mehta², Tammara A. Wood⁵, Noelle Kosarek², Monique Hinchcliff⁶, Chris Bailey-Kellogg⁷, Patricia A. Pioli⁸ and Michael L. Whitfield⁹, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ³Geisel School of Medicine at Dartmouth, lebanon, NH, ⁴Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁵Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ⁶Rheumatology, Northwestern University, Chicago, IL, ⁷Computer Science, Dartmouth College, 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: T cell receptors (TCRs) are a vital component of the adaptive immune system and TCR repertoire diversity is considered a measure of the immune…
Abstract Number: 2057 • 2018 ACR/ARHP Annual Meeting
Alterations of the Splicing Machinery in Leukocyte Subsets of Rheumatoid Arthritis Patients Modulate Their Inflammatory, Autoimmune and Atherothrombotic Profiles
Carlos Perez-Sanchez¹, Alejandro Ibáñez-Costa², Emilia Alors-Perez², Sergio Pedraza-Arévalo², Alejandra Maria Patiño-Trives², María Luque Tevar², Patricia Ruiz-Limon³, Nuria Barbarroja¹, Yolanda Jiménez-Gómez¹, Maria Carmen Abalos-Aguilera⁴, Pedro Segui⁵, Rafaela Ortega-Castro¹, Jerusalem Calvo-Gutierrez¹, Alejandro Escudero-Contreras⁴, Eduardo Collantes Estevez², Justo P Castaño⁶, Raul M Luque⁶ and Chary Lopez-Pedrera², ¹Rheumatology service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ³Research Group of Endocrine Diseases, Research Laboratory. Biomedical Research Institute of Malaga (IBIMA).Virgen de la Victoria Universitary Hospital, Malaga, Spain., Málaga, MA, Spain, ⁴Rheumatology Service, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁵Radiology, IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁶Department of Cell Biology, Physiology and Immunology. University of Cordoba, Reina Sofia Hospital, IMIBIC, CIBERobn, and ceiA3, Córdoba, Spain
Background/Purpose: 1) To identify and characterize the alterations present in the splicing machinery in leukocyte subsets of Rheumatoid Arthritis (RA) patients, and 2) To evaluate…
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…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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