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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