Abstracts tagged "Gene Expression"

Abstract Number: 2200 • ACR Convergence 2024
Whole Blood Transcriptome Profiling in Juvenile Systemic Sclerosis Patients Reveals Active Immune Upregulation and Enhanced Fibrotic Signature
Rania Elbakri¹, Amanda Robinson², Anwesha Sanyal¹ and Kathryn Torok³, ¹University of Pittsburgh, pittsburgh, PA, ²University of Utah Health, Salt Lake City, UT, ³Division of Rheumatology, Scleroderma Center, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA, Pittsburgh, PA
Background/Purpose: Juvenile systemic sclerosis (jSSc) is a rare chronic autoimmune disorder characterized by skin thickening and multisystem organ involvement, leading to significant morbidity. The pathogenesis…
Abstract Number: 0759 • ACR Convergence 2024
Macrophage-Lineage Cells in Giant Cell Arteritis Express MMP12, Phagocytosis and Osteoclast-associated Molecules That May Contribute to Destruction of the Tunica Media
Makoto Sugihara¹, Nobumasa Watanabe², Yuichiro Hara², Yasumasa Nishito³, Mai Kounoe⁴, Kazunari Sekiyama⁴, Eisuke Takamasu⁵, Naofumi Chinen⁶, Kota Shimada⁵ and Hideya Kawaji², ¹Department of Rheumatic Diseases, Tokyo Metropolitan Tama-Hokubu Medical Center, Tokyo, Japan, Higashimurayama-shi, Tokyo, Japan, ²Research Center for Genome & Medical Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, Setagaya-ku, Tokyo, Japan, ³Center for Basic Technology Research, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, Setagaya-ku, Tokyo, Japan, ⁴Center for Medical Research Cooperation, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, Setagaya-ku, Tokyo, Japan, ⁵Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Tokyo, Japan, Fuchu-shi, Tokyo, Japan, ⁶Department of Rheumatic Diseases, Tokyo Metropolitan Tama-Nambu Chiiki Hospital, Tokyo, Japan, Tama-shi, Tokyo, Japan
Background/Purpose: Giant cell arteritis (GCA) is a large vessel vasculitis characterized by inflammatory cell infiltration and destruction of the tunica media. In this study, we…
Abstract Number: 1507 • ACR Convergence 2024
To Develop a Method for Estimating Interferon Signatures in SLE from Routine Clinical Laboratory Tests
Yoshinobu Koyama¹, Yoshiharu Sato², Yu Nakai¹ and Moe Tokunaga³, ¹Japanese Red Cross Okayama Hospital, Okayama, Japan, ²DNA Chip Research Inc., Tokyo, ³Japanese Red Cross Okayama Hospital, Okayama
Background/Purpose: IFN signatures are known to play an important role in the pathogenesis of systemic autoimmune diseases such as SLE. Recently, therapeutic agents targeting IFN…
Abstract Number: 2316 • ACR Convergence 2024
Gene Expression Profile Is Different Between Men and Women in Psoriatic Disease
Pauline KRUG¹, angela De Sousa Leite², Frédéric Lecouvet¹, Maria Simona stoenoiu¹ and Adrien Nzeusseu Toukap³, ¹Cliniques universitaires St-Luc, Brussel, Belgium, ²Cliniques universitaires St-Luc, Brussels, Belgium, ³Cliniques universitaires Saint-Luc,, St.-Lambrechts-Woluwe, Belgium
Background/Purpose: Psoriatic arthritis (PsA) is a highly heterogenous chronic inflammatory condition. Recent publications highlight differences between men and women in disease manifestation and response to…
Abstract Number: 0763 • ACR Convergence 2024
Transcriptional Analysis of Both Normal and Abnormal TABs in Biopsy-proven GCA Reveals a Shared Gene Expression Profile Compared to Clinically Diverse Controls
Ingrid Lindquist¹, Dongseok Choi², Suzanne Fei³, Kiana Vakil-Gilani⁴, Daniela Ghetie¹, David Wilson⁵, Diva Salomao⁶, Hillary Stiefel⁷, Daniel Albert⁷, James Rosenbaum⁸ and Marcia Friedman¹, ¹OHSU, Division of Arthritis and Rheumatic Diseases, Portland, OR, ²OHSU, School of Public Halth, Portland, OR, ³OHSU, Oregon National Primate Research Center, Portland, OR, ⁴OHSU, Division of Arthritis and Rheumatic Diseases, Porltand, OR, ⁵OHSU, Casey Eye Institute, Porrtland, OR, ⁶Mayo Clinic, Division of Anatomic Pathology, Rochester, MN, ⁷OHSU, Casey Eye Institute, Portland, OR, ⁸Corvus Pharmaceuticals and Legacy Devers Eye Institute, Portland, OR
Background/Purpose: Giant cell arteritis (GCA) is the most common vasculitis in people over 50 years old and is a clinical diagnosis bolstered by pathologic findings on temporal…
Abstract Number: 1643 • ACR Convergence 2024
Single Nuclei Multiome and Spatial Transcriptomic Analysis of Early, Untreated SSc Skin Identifies Signaling Interactions Between Macrophages and Fibroblasts
Helen Jarnagin¹, Dillon Popovich², Rezvan Parvizi³, Rosemary Gedert⁴, Lam C. Tsoi⁵, Rachael Wasikowski⁵, Zhiyun Gong¹, Madeline Morrisson⁶, Laurent Perreard⁷, Fred Kolling IV⁷, Dinesh Khanna⁴, Johann Gudjonsson⁴ and Michael Whitfield³, ¹Dartmouth College, Lebanon, NH, ²Dartmouth College, West Lebanon, NH, ³Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴University of Michigan, Ann Arbor, MI, ⁵Michigan, Dept. of Dermatology, Ann Arbor, MI, ⁶Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁷Geisel School of Medicine, Dartmouth College, Lebanon
Background/Purpose: We generated a vertically integrated dataset on treatment naïve patients with dcSSc (diffuse Systemic Sclerosis) skin that includes bulk RNA-seq, single nuclei multiome, and…
Abstract Number: 2385 • ACR Convergence 2024
Increased Type I Interferon Inducible Genes Expression in the Peripheral Blood of Patients Presenting Cutaneous Lupus Erythematosus Manifestations
Anastasia- Bilio Chronopoulou¹, Maria Gerochristou², Sylvia Raftopoulou³, Alexander Stratigos⁴ and Clio Mavragani⁵, ¹National and Kapodistrian University of Athens, Athens, Greece, ²Andreas Syggros Hospital, National and Kapodistrian University of Athens, Athens, Greece, ³Molecular and Applied Physiology Unit, Department of Physiology, School of Medicine, National and Kapodistrian University of Athens., Athens, Greece, ⁴1st Department of Dermatology-Venereology, Faculty of Medicine, Andreas Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece, ⁵Department of Physiology and Pathophysiology, School of Medicine, National and Kapodistrian University of Athens., Athens, Greece
Background/Purpose: Cutaneous Lupus Erythematosus (CLE) is a chronic autoimmune skin disease characterized by a spectrum of cutaneous manifestations resulting from immune dysregulation and inflammation. While…
Abstract Number: 0766 • ACR Convergence 2024
Neutrophil Transcriptomics in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad¹, Tom Hill², Bhavisha Patel³, Emma Groarke⁴, Neal Young⁴, Stefania Dell'Orso⁵ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ³National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁵National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and…
Abstract Number: 1767 • ACR Convergence 2024
Endothelial Cell-Driven JAG/NOTCH Signaling in Localized Scleroderma Patients
Theresa Hutchins¹, Anwesha Sanyal¹, Deren Esencan¹ and Kathryn Torok², ¹University of Pittsburgh, Pittsburgh, PA, ²Division of Rheumatology, Scleroderma Center, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA, Pittsburgh, PA
Background/Purpose: Localized scleroderma is a rare autoimmune disease primarily affecting the skin and underlying tissue. While its exact pathogenesis remains unclear, studies suggest links to…
Abstract Number: 2387 • ACR Convergence 2024
Biomarkers of Lupus Nephritis Are Less Predictive in APOL1 High Risk Genotype Lupus
Madeline Alizadeh¹, Vishnuprabu Pandian¹, Christele Felix², Andrra Nimoni², Jasmin Divers³, Timothy Niewold² and Ashira Blazer¹, ¹University of Maryland Baltimore, Baltimore, MD, ²Hospital for Special Surgery, New York, NY, ³NYU School of Medicine, New York, NY
Background/Purpose: Compared to Apolipoprotein L1 (APOL1) low risk genotype (LRG) patients, APOL1 (HRG) has been shown to increase the risk of chronic kidney disease in…
Abstract Number: 0778 • ACR Convergence 2024
Comprehensive Immune Profiling of Anti-CD19 Chimeric Antigen Receptor T-Cell Therapy in Patients with Autoimmune Disease
Justin Chou¹, Ricardo Grieshaber-Bouyer², Michelle J Wu³, Christina Bergmann², Jule Taubmann⁴, Fabian Müller⁵, Aline Bozec⁴, Tobias Rothe², Andreas MAckensen⁶, Amber Podoll⁷, Jonathan Gutman⁷, Aiden Haghikia⁸, Dimitrios Mougiakakos⁹, Gary Tong³, Pouya Kheradpour³, Francis Kim¹⁰, Prameela Ramesan¹⁰, Brandon Kwong¹⁰, Kunbin Qu¹⁰, Bishwa Ganguly¹⁰, Dominic Borie¹⁰, James Chung¹⁰ and Georg Schett¹¹, ¹Kyverna Therapeutics, Emeryville, CA, ²Department of Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Uniklinikum Erlangen, Erlangen, Germany, ³Verily Life Sciences, South San Francisco, CA, ⁴Friedrich-Alexander Universität Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, ⁵Department of Medicine 5 - Hematology and Oncology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and Uniklinikum Erlangen, Erlangen, Germany, ⁶Department of Medicine 5 - Hematology and Oncology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and Uniklinikum Erlangen, Erlangen, Bayern, Germany, ⁷University of Colorado Anschutz Medical Campus, Aurora, CO, ⁸Otto-von-Guericke University, Magdeburg, Germany, ⁹Otto-von-Guericke University, Magdeburg, Germany, Magdeburg, Germany, ¹⁰Kyverna Therapeutics, Inc., Emeryville, CA, ¹¹Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
Background/Purpose: Anti-CD19 chimeric antigen receptor (CAR) T-cell therapy represents a promising advancement in the treatment of autoimmune diseases, including systemic sclerosis (SSc), idiopathic inflammatory myopathy…
Abstract Number: 1769 • ACR Convergence 2024
Top Peripheral Blood Transcriptomic Gene Modules Reveal Functional Annotation and Correlation with Clinical Traits in Juvenile Dermatomyositis (JDM) and Myositis-Specific Autoantibody (MSA) Groups
Ujana Zajmi¹, Megan Darrell¹, Amy Kaneshiro¹, Adeline Chin¹, Adriana Jesus², Stephen Brooks¹, Raphaela Goldbach-Mansky², Lisa Rider³ and Hanna Kim⁴, ¹NIH/NIAMS, Bethesda, MD, ²NIH/NIAD, Bethesda, MD, ³NIEHS, NIH, Garrett Park, MD, ⁴National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: Myositis-specific autoantibody (MSA) subgroups define phenotypes associated with specific clinical traits and outcomes within JDM, a clinically heterogeneous autoimmune disease. The pathogenesis of JDM…
Abstract Number: 2418 • ACR Convergence 2024
Identification of Co-expressed Molecular Markers That Predict Risk of Severe Flare in Patients with Systemic Lupus Erythematosus (SLE)
Matthew Linnik¹, Guilherme Rocha², David Gemperline³, Ernst Dow³, Christoph Preuss³, Helen Masson⁴, Olivia Ellis⁴, Ana Accioly³, Maja Hojnik⁵, Kira Rubtsova¹, Robert Benschop⁶, Mark Chambers⁷, Mark Genovese³ and Richard Higgs³, ¹Eli Lilly, San Diego, CA, ²Eli Lilly, Indianapolis, IN, ³Eli Lilly and Co, Indianapolis, IN, ⁴Eli Lilly and Co, San Diego, CA, ⁵Eli Lilly and Co., Indianapolis, IN, ⁶Eli Lilly and Company, Indianapolis, IN, ⁷Eli Lilly, Zionsville, IN
Background/Purpose: SLE flare is a clinically and regulatory relevant outcome, yet limited markers currently exist that predict its risk. We used baseline whole blood/serum samples…
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…

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