Abstracts tagged "Gene Expression"

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…
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…

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