Results 181 to 190 of about 789,482 (236)
Association Between Genetic Ancestry and Multiple Sclerosis Severity
Annals of Neurology, EarlyView.Objective
The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods
Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson +32 morewiley +1 more sourcePatient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective
Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel +24 morewiley +1 more sourceBiallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability
Annals of Neurology, EarlyView.Objective
Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic +34 morewiley +1 more sourceThe Nuclear Receptor Testicular Receptor 4 Orchestrates Cytoskeletal Organization in a G Protein Subunit Alpha 12/Rho‐Associated Protein Kinase–Dependent Manner to Promote Myofibroblast Differentiation and Tissue Fibrosis in Systemic Sclerosis
Arthritis &Rheumatology, EarlyView.Objective
Members of the superfamily of nuclear receptors have been implicated in inflammatory processes and pathologic tissue remodeling and have emerged as attractive targets for pharmaceutical intervention. However, the role of testicular receptor 4 (TR4; or Nr2c2) in fibroblast activation and rheumatologic diseases has not yet been investigated ...Yun Zhang, Lichong Shen, Junhui Zheng, Gisela Baur, Dilidaer Yasen, Honglin Zhu, Yi‐Nan Li, Xianyi Meng, Thuong Trinh‐Minh, Tim Filla, Debomita Chakraborty, Andrea‐Hermina Györfi, Christina Bergmann, Adam Reich, Alexander Kreuter, Georg Schett, Jörg H. W. Distler +16 morewiley +1 more sourceAutoreactivity Versus Autoimmunity: Characteristics of Autoantigen‐Specific CD4 T Cells in Rheumatoid Arthritis and Health
Arthritis &Rheumatology, EarlyView.Objective
CD4 T cells specific for citrullinated (cit) peptides are key players in rheumatoid arthritis (RA) immunopathogenesis. Characterizing these cells and identifying features of healthy and RA‐associated autoreactivity will provide valuable insight into disease mechanisms and form the basis of immune state biomarkers to facilitate the next ...James A. Stanway, Daniel Peters, Helen Waller, Jeremy Lakey, Henrique De Paula Lemos, Kristian Williams, Abbie Degnan, Julie Diboll, Abdul Mannan Baru, David Tough, Arthur G. Pratt, Catharien M.U. Hilkens, Amy E. Anderson, John D. Isaacs +13 morewiley +1 more sourceThe Role of IgM Anti‐acetylated Protein Antibodies and B Cells in the Origin of Antimodified Protein Autoimmunity in Rheumatoid Arthritis
Arthritis &Rheumatology, EarlyView.Objective
Rheumatoid arthritis (RA) is characterized by anti‐modified protein antibodies (AMPAs), including anti‐citrullinated protein antibodies (ACPA), anti‐carbamylated protein antibodies (anti‐CarP), and anti‐acetylated protein antibodies (AAPA). In contrast to other AMPAs, AAPA IgM is found in healthy individuals, raising questions about its role ...Aegli Athanasiadou, Sanne Kroos, Renee van de Wetering, Rian Schopmeijer, Carin van der Keur, Michael Eikmans, Caroline Meijer, Solbritt Rantapää‐Dahlqvist, René E. M. Toes, Linda M. Slot, Diane van der Woude +10 morewiley +1 more sourceUpdated COVID‐19 Vaccines and Health Outcomes in Patients With Autoimmune Rheumatic Conditions
Arthritis &Rheumatology, EarlyView.Objective
We aimed to assess the association between COVID‐19 vaccination status and COVID‐19‐related hospital admissions, need for mechanical ventilation or extracorporeal membrane oxygenation (ECMO), and death in people with autoimmune rheumatic conditions. Methods
We conducted a retrospective cohort study using National Clinical Cohort Collaborative Lesley E. Jackson, A. Jerrod Anzalone, Kenneth G. Saag, Rahima Begum, AKM F. Rahman, Namrata Singh, Kaleb Michaud, Jasvinder A. Singh, Rena C. Patel, Maria I. Danila, on behalf of the National Clinical Cohort Collaborative Consortium, Adam B. Wilcox, Adam M. Lee, Alexis Graves, Alfred (Jerrod) Anzalone, Amin Manna, Amit Saha, Amy Olex, Andrea Zhou, Andrew E. Williams, Andrew M. Southerland, Andrew T. Girvin, Anita Walden, Anjali Sharathkumar, Benjamin Amor, Benjamin Bates, Brian Hendricks, Brijesh Patel, G. Caleb Alexander, Carolyn T. Bramante, Cavin Ward‐Caviness, Charisse Madlock‐Brown, Christine Suver, Christopher G. Chute, Christopher Dillon, Chunlei Wu, Clare Schmitt, Cliff Takemoto, Dan Housman, Davera Gabriel, David A. Eichmann, Diego Mazzotti, Donald E. Brown, Eilis Boudreau, Elaine L. Hill, Emily Carlson Marti, Emily R. Pfaff, Evan French, Farrukh M. Koraishy, Federico Mariona, Fred Prior, George Sokos, Greg Martin, Harold P. Lehmann, Heidi Spratt, Hemalkumar B. Mehta, J. W. Awori Hayanga, Jami Pincavitch, Jaylyn Clark, Jeremy Richard Harper, Jessica Yasmine Islam, Jin Ge, Joel Gagnier, Johanna J. Loomba, John B. Buse, Jomol Mathew, Joni L. Rutter, Julie A. McMurry, Justin Guinney, Justin Starren, Karen Crowley, Katie Rebecca Bradwell, Kellie M. Walters, Ken Wilkins, Kenneth R. Gersing, Kenrick Cato, Kimberly Murray, Kristin Kostka, Lavance Northington, Lee Pyles, Lesley Cottrell, Lili M. Portilla, Mariam Deacy, Mark M. Bissell, Marshall Clark, Mary Emmett, Matvey B. Palchuk, Melissa A. Haendel, Meredith Adams, Meredith Temple‐O'Connor, Michael G. Kurilla, Michele Morris, Nasia Safdar, Nicole Garbarini, Noha Sharafeldin, Ofer Sadan, Patricia A. Francis, Penny Wung Burgoon, Philip R. O. Payne, Randeep Jawa, Rebecca Erwin‐Cohen, Rena C. Patel, Richard A. Moffitt, Richard L. Zhu, Rishikesan Kamaleswaran, Robert Hurley, Robert T. Miller, Saiju Pyarajan, Sam G. Michael, Samuel Bozzette, Sandeep K. Mallipattu, Satyanarayana Vedula, Scott Chapman, Shawn T. O'Neil, Soko Setoguchi, Stephanie S. Hong, Steven G. Johnson, Tellen D. Bennett, Tiffany J. Callahan, Umit Topaloglu, Valery Gordon, Vignesh Subbian, Warren A. Kibbe, Wenndy Hernandez, Will Beasley, Will Cooper, William Hillegass, Xiaohan Tanner Zhang +127 morewiley +1 more sourceThe synergistic impact of granulocytic myeloid‐derived suppressor cells and innate lymphoid cells in systemic sclerosis
Arthritis &Rheumatology, Accepted Article.Objective
Systemic sclerosis (SSc) is a chronic autoimmune disorder characterized by immune dysregulation and fibrosis, with myeloid‐derived suppressor cells (MDSCs) emerging as important regulators of immune responses. However, the role of MDSCs in SSc‐associated fibrosis and their interactions with other immune cell populations remain poorly ...Stefanie Weber, Mario R. Angeli, Hashem Mohammadian, Hannah Labinsky, Maria Gabriella Raimondo, Richard Demmler, Yuko Ariza, Thomas Wohlfahrt, Markus Luber, Yi‐Nan Li, Jörg H.W. Distler, Tobias Bäuerle, Georg Schett, Simon Rauber, Andreas Ramming, Alina M. Ramming +15 morewiley +1 more source