Abstracts tagged "Gene Expression"

Abstract Number: 0894 • ACR Convergence 2024
HOXD13 Regulation of Primary Cilia in Rheumatoid Arthritis Synovial Fibroblasts: Implications for Joint-Specific Pathogenesis
Masoumeh Mirrahimi¹, Kerstin Klein², Alexandra Khmelevskaya³, Eva Camarillo Retamosa³, Miranda Houtmen³, Oliver Distler¹ and Caroline Ospelt¹, ¹Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, Zurich, Switzerland, ²University of Bern, Bern, Switzerland, ³Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, Zurich, Zurich, Switzerland
Background/Purpose: Rheumatoid arthritis (RA) follows a characteristic pattern of joint involvement. The embryonic development of limbs and joints influences certain joints' propensity to develop arthritis.…
Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶ and Michael Whitfield², ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Dartmouth, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…
Abstract Number: 2630 • ACR Convergence 2024
Identification of Molecular Biomarkers for Sjögren’s Disease Stratification via a Deep Learning Foundation Model Dedicated to Immune-Mediated and Inflammatory Disease
Aygalic Jara-Mikolajczak¹, Zachary Abessera¹, Martin Rethoret-Pasty¹, Elisa Mazuir¹, Apolline Bruley¹, Wan Fai Ng², Marta Alarcon-Riquelme³, Michele Bombardieri⁴, Simon Bowman⁵, Elena Pontarini⁶, Jacques-Eric Gottenberg⁷, Xavier Mariette⁸, Laurence LAIGLE⁹, Julien Duquesne¹, Philippe Moigeon¹⁰ and Vincent Bouget¹¹, and NECESSITY Consortium, ¹Scienta Lab, Paris, France, ²Department of Rheumatology, Newcastle University, & HRB Clinical Research Facility, University College Cork, Newcastle upon Tyne, United Kingdom, ³Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ⁴Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, ⁵Department of Rheumatology, University Hospital Birmingham, Birmingham, United Kingdom, ⁶William Harvey Research Institute, London, United Kingdom, ⁷Rheumatology Department, Strasbourg University Hospital,, Strasbourg, France, ⁸Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, ⁹Servier Laboratories, France, SURESNES, France, ¹⁰Servier Laboratories, France, Gif sur Yvette, France, ¹¹Scienta Lab, Gif-sur-Yvette, France
Background/Purpose: Sjögren’s Disease (SjD) exhibits heterogeneity in clinical manifestations and underlying biology. This heterogeneity complicates drug development, with no targeted therapy approved to date. Identifying…
Abstract Number: 0898 • ACR Convergence 2024
A Blood Transcriptome Signature Distinguishes Between Diverse Systemic Autoimmune Diseases and Infection
Kleio-Maria Verrou¹, Argyrios Theophilopoulos², Nikolaos Vlachogiannis³, George Kollias⁴, Christoforos Nikolaou⁵ and Petros Sfikakis¹, ¹Joint Academic Rheumatology Program, School of Medicine, National and Kapodistrian University of Athens. Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Athens, Greece, ²Department of Immunology, Scripps Clinic and Research Foundation, San Diego, CA, ³Joint Academic Rheumatology Program, School of Medicine, National and Kapodistrian University of Athens. Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Zografou, Greece, ⁴Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. Institute for Bioinnovation, Biomedical Sciences Research Center “Alexander Fleming”, Vari, Greece. Department of Physiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece, Athens, Greece, ⁵Institute for Bioinnovation, Biomedical Sciences Research Center “Alexander Fleming”, Athens, Greece
Background/Purpose: The most pathogenic responses against self and foreign antigens that lead to systemic autoimmune diseases and infections, respectively, overall engage similar immunologic components. Consequently, there are…
Abstract Number: 1829 • ACR Convergence 2024
Genomic Analysis of Skin Biopsies Differentiates Major Anti-Nuclear Autoantibody Subsets in Limited Cutaneous Systemic Sclerosis
Philip Yee¹, Medha Kanitkar², Kristina Clark³, Voon Ong¹ and Christopher Denton⁴, ¹University College London, London, England, United Kingdom, ²University College London, London, United Kingdom, ³University of Oxford, Oxford, United Kingdom, ⁴University College London, Northwood, United Kingdom
Background/Purpose: Systemic sclerosis (SSc) displays significant heterogeneity. Those with limited cutaneous systemic sclerosis (lcSSc) experience significant systemic organ involvement similar to those with diffuse cutaneous…
Abstract Number: 2642 • ACR Convergence 2024
Identifying Systemic Sclerosis Molecular Subtypes by Their Cellular Signature – Deconvoluting the Puzzle
Erik Feldman¹, Neta Milman¹, Shai S. Shen-Orr¹ and Doron Rimar², ¹1. Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Haifa, Israel, ²Rheumatology unit, Bnai-Zion medical center and the faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Haifa, Israel
Background/Purpose: RNA gene expression allows to identify differentially expressed genes (DEG) in Systemic sclerosis (SSc) patients compared to healthy controls. Using unsupervised machine learning Milano…
Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Katherine Owen¹, Isaac Peabody², Mikhail Olferiev³, Tyson Dawson², Prathyusha Bachali⁴, Peter Kasson⁵, Amrie Grammer⁶, Mary Crow³ and Peter Lipsky², ¹RILITE, Charlottesville, VA, ²Ampel Biosolutions, Charlottesville, VA, ³Hospital for Special Surgery, New York, NY, ⁴AMPEL BioSolutions, Redmond, WA, ⁵University of Virginia, Charlottesville, VA, ⁶AMPEL LLC, Charlottesville, VA
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…
Abstract Number: 1836 • ACR Convergence 2024
Transcriptional Changes in the Formation of Tissue Resident Memory T Cells in the Joint
Yang Yang¹, Yusuke Miyashita¹, Vitor Aguiar¹, Maria Gutierrez-Arcelus¹, Kellen Winden², Peter Nigrovic³ and Margaret Chang¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Boston, MA, ³Boston Children's Hospital, Brookline, MA
Background/Purpose: Rheumatoid arthritis is a chronic autoimmune disease characterized by joint-specific memory, the phenomenon in which arthritis repeatedly flares in the same joints. We previously…
Abstract Number: 2686 • ACR Convergence 2024
Dose Escalation Safety Study of Brentuximab Vedotin for Diffuse Cutaneous Systemic Sclerosis:Clinical Results and Mechanistic Analysis of Skin and Peripheral Blood Mononuclear Cells
David Fox¹, Laura Cooney², Lia Stelzig³, Robert Lafyatis⁴, Johann Gudjonsson⁵, Lam Tsoi⁶, Maureen Mayes⁷, Ankoor Shah⁸, Suzanne Kafaja⁹, William Barry³, Ellen Goldmuntz¹⁰, Dawn Smilek¹¹ and Dinesh Khanna⁶, ¹University of Michigan, Dexter, MI, ²University of Michigan and Immune Tolerance Network, Ann Arbor, MI, ³Rho, Durham, NC, ⁴Division of Rheumatology and Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, ⁵Department of Dermatology, University of Michigan, Ann Arbor, MI, ⁶University of Michigan, Ann Arbor, MI, ⁷UTHealth Houston Division of Rheumatology, Houston, TX, ⁸Duke University, Durham, NC, ⁹Division of Rheumatology, University of California, Los Angeles, Los Angeles, CA, ¹⁰Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases, Rockville, MD, ¹¹Immune Tolerance Network, UCSF, San Francisco, CA
Background/Purpose: Brentuximab vedotin (ADCETRIS®) is a drug antibody conjugate targeting CD30 approved for treatment of Hodgkin’s lymphoma (HL) and other hematologic malignancies. Association of CD30…
Abstract Number: 0083 • ACR Convergence 2024
Culturing and Comparative Analysis of Small Intestinal Organoids from SKG and MIFKO-SKG Mice
Mariia Korshko¹, Shaghayegh Foroozan Boroojeni² and Nigil Haroon³, ¹University Health Network, Toronto, ON, Canada, ²UHN, Toronto, Canada, ³Department of Medicine/Rheumatology, University Health Network, Schroeder Arthritis Institute, University of Toronto, Toronto, ON, Canada
Background/Purpose: Axial Spondyloarthritis (AxSpA) is a chronic inflammatory disease affecting both the joints and gut, with 60% of patients showing microscopic and 10% overt IBD…
Abstract Number: 0953 • ACR Convergence 2024
Establishment of Systemic Sclerosis Associated Pulmonary Arterial Hypertension Specific Endothelial Cells Through iPSCs and Their Functional and Molecular Analyses
Yuki Kudo¹, Masaru Kato¹, Yuhei Shibata², Ryo Hisada¹, Michihito Kono¹, Yuichiro Fujieda¹, Olga Amengual³ and Tatsuya Atsumi¹, ¹Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, Sapporo, Japan, ²Rheumatology Department, Hokkaido Medical Center for Rheumatic Diseases, Sapporo, Japan., Sapporo, Japan, ³Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan
Background/Purpose: Systemic sclerosis associated pulmonary arterial hypertension (SSc-PAH) is of particularly clinical interest since its outcomes remain unfavorable despite modern PAH therapies. Previous reports showed…
Abstract Number: 1839 • ACR Convergence 2024
PPP2R3C Overexpression Suppresses TCR -mediated CD4+ T Cell Abnormal Activation in Systemic Lupus Erythematosus via JNK and AKT-mTOR Pathways
Xuan Fang, Xiangpei Li and Xiaomei Li, The First Affiliated Hospital of University of Science and Technology of China., He Fei, China (People's Republic)
Background/Purpose: Systemic Lupus Erythematosus (SLE) is distinguished by immune system dysfunction, leading to heightened activation of T and B cells. This increased activity leads to…
Abstract Number: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Mayu Magi¹, Hiroto Yoshida¹, Hiroya Tamai², Kotaro Matsumoto², Keiko Yoshimoto², Yoshihiro Matsumoto¹, Tetsuhiro Soeda¹ and Yuko Kaneko², ¹Chugai Pharmaceutical Co., Ltd., Kanagawa, Japan, ²Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…
Abstract Number: 1105 • ACR Convergence 2024
PDGFA and TGFB1, Key Genes to Discriminate Autoimmune Diseases-Related Interstitial Lung Disease from Idiopathic Pulmonary Fibrosis?
Veronica Pulito-Cueto¹, Belén Atienza-Mateo², David Iturbe-Fernández³, Victor M. Mora-Cuesta³, Joao Carlos Batista-Liz¹, María Sebastián Mora-Gil⁴, José M. Cifrián⁵, Ricardo Blanco-Alonso⁶ and Raquel Lopez-mejias¹, ¹IDIVAL, Santander, Spain, ²Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Cantabria, Spain, ³Immunopathology Group, Valdecilla Research Institute (IDIVAL) and Department of Pneumology, Marqués de Valdecilla University Hospital (HUMV), Santander, ⁴Immunopathology Group, Valdecilla Research Institute (IDIVAL) and Department of Rheumatology, Marqués de Valdecilla University Hospital (HUMV), Santander, ⁵Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. Immunopathology group, IDIVAL, Santander, ⁶Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Spain
Background/Purpose: Interstitial lung disease (ILD) constitutes one of the main causes of mortality in patients with autoimmune diseases (ADs) [1]. The early diagnosis of AD-ILD+…
Abstract Number: 2036 • ACR Convergence 2024
CCN6 Gene Mutation Induces Mitochondrial Dysfunction: The Cause of Progressive Pseudo-rheumatoid Dysplasia
Yanhong Li¹, Xiufeng Bai² and Yi Liu³, ¹West China School of Medicine and West China Hospital, Sichuan University, Cheng Du, Sichuan, China, ²West China Hospital, Sichuan University, Chengdu, Sichuan, China (People's Republic), ³West China Hospital of Sichuan University, Chengdu, Sichuan, China
Background/Purpose: Progressive pseudo-rheumatoid dysplasia (PPRD) is a rare autosomal recessive disorder characterized by non-inflammatory joint issues that primarily affect the articular cartilage. This leads to…

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