Abstracts tagged "Gene Expression"

Abstract Number: 0783 • ACR Convergence 2024
Spatial Reconstruction of Interstitial Lung Disease
Miles Tran¹, Ce Gao¹, Mukta G Palshikar¹, Jessica Liu¹, Mari Kamiya¹, Gregory McDermott², Elena Joerns³, Daimon Simmons¹, Rachel Gate⁴, Deepak Rao⁵, Jeffrey Sparks⁶, Edy Kim⁷, Kevin Wei⁸ and ilya Korsunsky¹, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Brookline, MA, ³Mayo Clinic, Rochester, MN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA, ⁷Brigham and Women's Hospital, Cambridge, MA, ⁸Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Interstitial lung disease encompasses a heterogenous group of conditions broadly characterized by inflammation and progressive fibrosis of the lung[1]. There remains an ongoing search…
Abstract Number: 1773 • ACR Convergence 2024
Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells
Adriana Almeida de Jesus¹, Kip Friend², Bin Lin³, Eric Karlins⁴, Colton McNinch⁴, Sara Alehashemi⁵, Keith Kauffman⁶, FARZANA BHUYAN³, Taylor Newbolt⁶, Andrea Bohrer⁷, Andre Rastegar³, Sophia Park³, Dana Kahle³, Jacob Mitchell³, Amanda Chen³, Sofia Torreggiani⁸, Kader Cetin Gedik⁹, Katsiaryna Uss², Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma MacDermott¹⁴, Orla Killeen¹⁵, Thaschawee Arkachaisri¹⁶, Brian Nolan¹⁷, Zoran Gucev¹⁸, Kathryn Cook¹⁹, Vafa Mammadova²⁰, Gulnara Nasrullayeva²⁰, Mariana Correia Marques²¹, Abigail Bosk²², Seza Ozen²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁶, Guilaine Boursier²⁷, Veronique Hentgen²⁸, Ines Elhani²⁹, Mario Sestan³⁰, Marija Jelusic³¹, Danielle Fink³², Douglas Kuhns³², Clifton Dalgard³³, Alexandre Belot³⁴, Timothy Moran¹¹, Katherine Meyer-Barber⁷, Andrew Oler⁴, Daniel Barber⁶ and Raphaela Goldbach-Mansky³⁵, ¹NIAID, NIH, Silver Spring, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ³TADS, NIAID, NIH, Bethesda, MD, ⁴BCBB, NIAID, NIH, Bethesda, MD, ⁵NIH/NIAID/TADS, Potomac, MD, ⁶T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, ⁷Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, ⁸University Of Maryland Baltimore, Baltimore, MD, ⁹Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina School of Medicine, Chapel Hill, NC, ¹²University of Cape Town, Cape Town, South Africa, ¹³Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁴CHI Crumlin, Dublin, Dublin, Ireland, ¹⁵Children's Health Ireland, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁸University Children's Hospital, Skopje, Macedonia, ¹⁹Akron Children's Hospital, Akron, OH, ²⁰Azerbaijan Medical University, Baku, Azerbaijan, ²¹National Institutes of Health, Bethesda, MD, ²²Children's National Hospital, Bethesda, DC, ²³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵RAISE, Hospices Civils de Lyon, Lyon, France, ²⁶Hospices Civils de Lyon, Lyon, France, ²⁷University of Montpellier, Montpellier, ²⁸Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ²⁹Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, ³⁰University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, ³¹University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, ³²Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, ³³The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ³⁴Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁵Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
Abstract Number: 2420 • ACR Convergence 2024
Blood Transcriptome Analysis Reveals Enhanced B Cell and Complement Cascade Signatures in Patients with Major Neuropsychiatric Systemic Lupus Erythematosus
Dionysis Nikolopoulos¹, George Sentis², Jason Kitsos², Panagiotis Garantziotis³, Noemin Kapsala², antigoni Pieta², Myrto Nikoloudaki⁴, Theodora Manolakou⁵, Sofia Flouda², Ioannis Parodis⁶, Anastasia Filia², George Bertsias⁷, Antonis Fanouriakis² and Dimitrios Boumpas⁸, ¹Karolinska Institutet and Karolinska University Hospital, Division of Rheumatology, Department of Medicine Solna, Stockholm, Sweden, ²National and Kapodistrian University of Athens, Athens, Greece, ³Department of Internal Medicine 3-Rheumatology and Immunology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany, Erlangen, Germany, ⁴Rheumatology and Clinical Immunology, University of Crete School of Medicine, Heraklion, Greece, Heraklion, Greece, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶Karolinska Institutet, Karolinska University Hospital; Örebro University, Solna, Sweden, ⁷Laboratory of Rheumatology, Autoimmunity and Inflammation. University Hospital, Rheumatology, Clinical Immunology, Heraklion, Greece, ⁸4th Department of Internal Medicine, "Attikon" University Hospital, Athens, Greece, Athens, Greece
Background/Purpose: The molecular basis of neuropsychiatric systemic lupus erythematosus (NPSLE) remains elusive because of clinical heterogenicity, the complexity of pathophysiologic mechanisms involved and limited access…
Abstract Number: 0882 • ACR Convergence 2023
Activation of Ovarian Cancer G-Protein Coupled Receptor (OGR1) Attenuates Chondrocytes Inflammation via ERK1/2 Signaling Pathways in an in Vitro Model of Osteoarthritis
Omar Syed, Bhakti Patel, William Martin, Martha Diaz-Hernandez, Hicham Drissi and Mohd Nazir Khan, Emory University, Atlanta, GA
Background/Purpose: Osteoarthritis (OA) is the most prevalent joint disease, accounting for 50% of the musculoskeletal burden. Inflammation plays a crucial role in the development of…
Abstract Number: 2235 • ACR Convergence 2023
Identifying Differentially Expressed Genes to Predict TNF-Alpha and IL-17A Inhibitor Response in Psoriatic Arthritis
Quan Li¹, Darren O'Rielly¹, Kari Jenkins¹, Dianne Codner¹, Dafna Gladman², Amanda Dohey¹, Igor Jurisica³, Vinod Chandran⁴ and Proton Rahman⁵, ¹Memorial University, St. John's, NL, Canada, ²Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Department of Medicine, University of Toronto, Toronto, ON, Canada, ³Schroeder Arthritis Institute, Krembil Research Institute and Departments of Medical Biophysics and Computer Science and Faculty of Dentistry, University of Toronto and Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia, ⁴Schroeder Arthritis Institute, Krembil Research Institute, University Health Network and Division of Rheumatology, Department of Medicine, University of Toronto, Toronto, ON, Canada, ⁵Craig Dobbin Research Institute, Memorial University, St. John's, NL, Canada
Background/Purpose: Approximately 30 to 40% of patients are primary non-responders, and the response rate declines after each successive biological therapy. The primary aim is to…
Abstract Number: 0899 • ACR Convergence 2023
Complement Factor I (CFI) Gene Expression by Kidney Tubular Cells Is Increased in Lupus Nephritis Patients with Interstitial Fibrosis and Tubular Atrophy
Shudan Wang¹, John Greally², Masako Suzuki³, Jee-Young Moon², Tao Wang², Yvonne M Saenger², Brad Rovin⁴ and J. Michelle Kahlenberg⁵, ¹Albert Einstein College of Medicine / Montefiore Medical Center, New York, NY, ²Albert Einstein College of Medicine, Bronx, NY, ³Texas A&M University, College Station, TX, ⁴Ohio State University, Columbus, OH, ⁵University of Michigan, Ann Arbor, MI
Background/Purpose: Tubulointerstitial injury is a strong predictor of progression to kidney failure in lupus nephritis (LN). Prior animal studies suggest intrarenal complement activation has an…
Abstract Number: 2333 • ACR Convergence 2023
Dapirolizumab Pegol Impacts Important Immunologic Pathways in SLE: Pharmacodynamic Analysis of B Cell and Type I Interferon Pathways from a Phase 2b Trial
Ioana Cutcutache¹, Alex Powlesland¹, Andrew Skelton¹, Yunyun Sun¹, Matthew Page¹, George Stojan², Peter Lipsky³, Ania Skowera¹ and Christian Stach⁴, ¹UCB Pharma, Slough, United Kingdom, ²UCB, Baltimore, MD, ³AMPEL BioSolutions, Charlottesville, VA, ⁴UCB Pharma, Monheim am Rheim, Germany
Background/Purpose: The pivotal role of CD40-CD40L interactions in systemic lupus erythematosus (SLE) pathogenesis stems from the orchestration of a range of immune and inflammatory responses…
Abstract Number: 0011 • ACR Convergence 2023
Clock Gene Bmal1 Promotes Transcriptional Activity of NF-κB to Regulate Production of Inflammatory Mediators in RA-FLS
Hikari Tsukamoto¹, Kenta Kaneshiro², Kohsuke Yoshida¹, Koji Tateishi³, Yasuhiro Terashima³, Nao Shibanuma⁴, Yoshitada Sakai⁵ and Akira Hashiramoto¹, ¹Kobe University Graduate School of Health Sciences, Kobe, Japan, ²Kobe University Graduate School of Health Sciences, Osaka, Japan, ³Kohnan Kakogawa Hospital, Kakogawa, Japan, ⁴Kobe Kaisei Hospital, Kobe, Japan, ⁵Kobe University Graduate School of Medicine, Kobe, Japan
Background/Purpose: Rheumatoid arthritis (RA), an autoimmune polyarthritis characterized by 'tumor-like' proliferation of RA fibroblast-like synovial cells (RA-FLS), has characteristic symptoms such as "morning stiffness of…
Abstract Number: 0902 • ACR Convergence 2023
Neutrophils in Systemic Lupus Erythematosus Demonstrate Heterogeneity Based on Sex
William Ambler¹, Gustaf Wigerblad¹, Eduardo Patino-martinez¹, Shuichiro Nakabo¹, Norio Hanata¹, Stephen Brooks², Kan Jiang², Carmelo Carmona-Rivera¹ and Mariana Kaplan³, ¹Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skins Diseases, National Institutes of Health, Bethesda, MD, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skins Diseases, National Institutes of Health, Bethesda, MD, ³Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Sex differences in the immune system may contribute to o an increased incidence of autoimmunity in women and an increased susceptibility to infection and…
Abstract Number: 2438 • ACR Convergence 2023
Synovial Tissue Single-Cell Analysis Demonstrates Differential Fibroblast Populations Between RA and PsA Which Display Distinct Function
Órla Tynan¹, Mary Canavan², Achilleas Floudas³, Conor Smith⁴, Aoife O' Rourke⁴, Dumitru Anton⁵, Carl Orr⁶, Douglas Veale⁷ and Ursula Fearon⁸, ¹Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ²Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, School of Biochemistry & Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland, ³Dublin City University, Dublin, Ireland, ⁴Translational Immunology, Trinity Biomedical Sciences Institute, Dublin, Ireland, ⁵Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁶EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁷St.Vincent's University Hosp, Dublin, Ireland, ⁸Trinity College Dublin, Dublin, Ireland
Background/Purpose: Synovial fibroblasts (FLS) are key contributors to joint inflammation and damage in patients with Rheumatoid (RA) and Psoriatic Arthritis (PsA). Recent studies have identified…
Abstract Number: 0022 • ACR Convergence 2023
Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA
Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
Abstract Number: 0941 • ACR Convergence 2023
RUNX1 Expression and Binding Site Accessibility Is Associated with Increased Disease Severity in Systemic Sclerosis
Rezvan Parvizi¹, Zhiyun Gong¹, Dillon Popovich¹, Tamar Abel², Helen Jarnagin¹, Madeline Morrisson¹, Tammara Wood², Jonathan Garlick³, Monique Hinchcliff⁴, Patricia Pioli¹ and Michael Whitfield¹, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Dartmouth College, Hanover, NH, ³Tufts University School of Dental Medicine, Boston, MA, ⁴Yale School of Medicine, Westport, CT
Background/Purpose: Runt-related transcription factor 1 (RUNX1) is a member of the core-binding factor family that regulates proliferation, differentiation, and cell survival in multiple cell lineages.…
Abstract Number: 2445 • ACR Convergence 2023
Targeting of Endothelial Dysfunction in Lupus Nephritis: Effect on Human Renal Endothelial Cell Gene Expression and Outcomes in Murine Lupus Nephritis
Dayvia Russell¹, Sandra Sanchez², Evelyn Bruner² and Jim Oates², ¹Ralph H. Johnson VA Medical Center, Charleston, SC, ²Medical University of South Carolina, Charleston, SC
Background/Purpose: Lupus nephritis (LN) constitutes one of the most severe manifestations of systemic lupus erythematosus (SLE). Evidence points to endothelial nitric oxide synthase (eNOS) uncoupling,…
Abstract Number: 0032 • ACR Convergence 2023
Quantification of the Escape from X Chromosome Inactivation with the Million Cell-scale Human Blood Single-cell RNA-seq Datasets Reveals Heterogeneity of Escape Across Immune Cells and Escape in the Autoimmune Disease Conditions
Yoshihiko Tomofuji¹, Ryuya Edahiro¹, Yuya Shirai¹, Kyuto Sonehara², Qingbo Wang¹, Atsushi Kumanogoh¹ and Yukinori Okada³, ¹Osaka University, Suita, Japan, ²University of Tokyo, Tokyo, Japan, ³University of Tokyo / Osaka University / RIKEN, Tokyo, Japan
Background/Purpose: Understanding the differences in the immune system between sexes is important to elucidate the pathogenesis of autoimmune diseases which are more prevalent in females…
Abstract Number: 1167 • ACR Convergence 2023
Transcriptome Analysis of Peripheral Blood Reveals Superiority of the Triple Combination of Baricitinib, Rituximab, and Tacrolimus Therapy (BRT-Tx.) for anti-MDA5 Antibody-positive Dermatomyositis (MDA5-DM)
Yoshinobu Koyama¹, Yoshiharu Sato², Yu Nakai³ and Moe Tokunaga(Sakamoto)³, ¹Japanese Red Cross Okayama Hospital, Okayama, Japan, ²DNA Chip Research Inc, Tokyo, Japan, ³Rheumatology, Center for Autoimmune diseases, Japanese Red Cross Okayama Hospital, Okayama, Japan
Background/Purpose: MDA5-DM is characterized by high mortality due to rapid progressive ILD. We reported that in MDA-5DM, (1) RIG-1-like receptor signaling is enhanced, (2) antiviral…

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