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1.
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12 p, 3.3 MB |
Spanish cohort of VEXAS syndrome : clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
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Mascaro, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ;
Rodriguez-Pinto, Ignasi (Hospital Universitari MútuaTerrassa) ;
Poza, Gabriela (Hospital Universitario Virgen de la Arrixaca) ;
Mensa-Vilaro, Anna (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Martín, Julián (Hospital Álvaro Cunqueiro) ;
Caminal-Montero, Luis (Instituto de Investigación Sanitaria del Principado de Asturias) ;
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ;
Hernández Rodríguez, José (Hospital Clínic i Provincial de Barcelona) ;
Diaz, Marina (Hospital Clínic i Provincial de Barcelona) ;
Rita-Marques, Joana (Hospital Universitari Vall d'Hebron) ;
Sanmartí, Raimon (Hospital Clínic i Provincial de Barcelona) ;
Castañeda, Santos (Universidad Autónoma de Madrid) ;
Colunga, Dolores (Hospital Universitario Central de Asturias) ;
Coto-Hernández, Rubén (Instituto de Investigación Sanitaria del Principado de Asturias) ;
Fanlo, Patricia (Hospital Universitario de Navarra) ;
Elejalde, Jose Ignacio (Hospital Universitario de Navarra) ;
Segundo, Bujan (Hospital Universitari Vall d'Hebron) ;
Figueras, Ignasi (Hospital Universitari de Bellvitge) ;
Marco, Francisco Manuel (Hospital General Universitario de Alicante Dr Balmis) ;
Andrés, Mariano (Universidad Miguel Hernández de Elche) ;
Suárez, Silvia (Hospital Valle del Nalón) ;
Gonzalez-Garcia, Andres (Hospital Universitario Ramón y Cajal) ;
Fustà-Novell, Xavier (Fundació Althaia de Manresa) ;
Garcia-Belando, Clara (Hospital Universitario Virgen de la Arrixaca) ;
Granados-Maturano, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Fernandez Figueras, Maria Teresa (Hospital Universitari General de Catalunya) ;
Quilis, Neus (Hospital Universitari de Vinalopo) ;
Orriols-Caba, Maria (Hospital comarcal Alt Penedès) ;
Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias) ;
Cid, María Cinta (Hospital Clínic i Provincial de Barcelona) ;
Espígol-Frigolé, Georgina (Hospital Clínic i Provincial de Barcelona) ;
Alvarez-Abella, Alba (Hospital Universitari MútuaTerrassa) ;
Labrador, Eztizen (Hospital San Pedro) ;
Rozman, Maria (Hospital Clínic i Provincial de Barcelona) ;
Lopez-Guerra, Monica (Hospital Clínic i Provincial de Barcelona) ;
Castillo, Paola (Hospital Clínic i Provincial de Barcelona) ;
Alamo-Moreno, Jose R (Hospital Clínic i Provincial de Barcelona) ;
Gonzalez-Roca, Eva (Hospital Clínic i Provincial de Barcelona) ;
Plaza, Susana (Hospital Clínic i Provincial de Barcelona) ;
Fabregat, Virginia (Hospital Clínic i Provincial de Barcelona) ;
Lara, Rocio (Hospital Clínic i Provincial de Barcelona) ;
Vicente-Rabaneda, Esther F (Universidad Autónoma de Madrid) ;
Tejedor Vaquero, Sonia (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Magri, Giuliana (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Bonet, Nuria (Universitat Pompeu Fabra) ;
Solis-Moruno, Manuel (Universitat Pompeu Fabra) ;
Cerutti, Andrea (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Fornas, Òscar (Universitat Pompeu Fabra) ;
Casals, Ferran (Universitat de Barcelona) ;
Yagüe, Jordi (Hospital Clínic i Provincial de Barcelona) ;
Aróstegui, Juan Ignacio (Hospital Clínic i Provincial de Barcelonaa) ;
Universitat Autònoma de Barcelona
The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants. To investigate the presence of VEXAS syndrome among patients with adult-onset undiagnosed AID. [...]
2023 -  10.1136/ard-2023-224460
Annals of the rheumatic diseases, Vol. 82 (september 2023) , p. 1594-1605
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2.
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12 p, 9.5 MB |
Single-cell transcriptomic profiling reveals a pathogenic role of cytotoxic CD4+ T cells in giant cell arteritis
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Carmona, Elio G. (Hospital Universitario San Cecilio (Granada)) ;
Callejas Rubio, Jose Luis (Hospital Universitario San Cecilio (Granada)) ;
Raya, Enrique (Hospital Universitario San Cecilio (Granada)) ;
Ríos-Fernández, Raquel (Hospital Universitario San Cecilio (Granada)) ;
Villanueva-Martín, Gonzalo (Institute of Parasitology and Biomedicine López-Neyra) ;
Cid, María (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernández-Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Timmermann, Bernd (Max Planck Institute for Molecular Genetics) ;
Ortego-Centeno, Norberto (Universidad de Granada. Departamento de Medicina) ;
Martín, Javier (Spanish National Research Council) ;
Márquez, Ana (Instituto de Parasitología y Biomedicina "López-Neyra")
Giant cell arteritis (GCA) is a systemic vasculitis mediated by an aberrant immunological response against the blood vessel wall. Although the pathogenic mechanisms that drive GCA have not yet been elucidated, there is strong evidence that CD4 T cells are key drivers of the inflammatory process occurring in this vasculitis. [...]
2024 - 10.1016/j.jaut.2023.103124
Journal of autoimmunity, Vol. 142 (january 2024) , p. 103124
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3.
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11 p, 4.8 MB |
Methylome and transcriptome profiling of giant cell arteritis monocytes reveals novel pathways involved in disease pathogenesis and molecular response to glucocorticoids
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Estupiñán-Moreno, Elkyn (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Ortiz-Fernández, Lourdes (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Li, Tianlu (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Hernández-Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ciudad, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Andrés-León, Eduardo (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Terron-Camero, Laura Carmen (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Prieto-González, Sergio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Espígol-Frigolé, Georgina (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cid, María Cinta (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Márquez, Ana (Instituto de Investigación Sanitaria de Granada) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra")
Objectives Giant cell arteritis (GCA) is a complex systemic vasculitis mediated by the interplay between both genetic and epigenetic factors. Monocytes are crucial players of the inflammation occurring in GCA. [...]
2022 - 10.1136/annrheumdis-2022-222156
Annals of the rheumatic diseases, Vol. 81 Núm. 9 (january 2022) , p. 1290-1300
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4.
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10 p, 975.3 KB |
Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
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Carmona, F. David (Universidad de Granada) ;
Coit, Patrick (University of Michigan) ;
Saruhan-Direskeneli, Güher (Department of Physiology, Istanbul Medical Faculty, Istanbul University) ;
Hernández-Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cid, María Cinta (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castañeda, Santos (Instituto de Investigación Hospital Universitario de la Princesa) ;
Vaglio, Augusto (University Hospital of Parma) ;
Direskeneli, Haner (Marmara University) ;
Merkel, Peter A. (University of Pennsylvania) ;
Boiardi, Luigi (Istituto di Ricovero e Cura a Carattere Scientifico) ;
Salvarani, Carlo (Istituto di Ricovero e Cura a Carattere Scientifico) ;
Gonzalez-Gay, MA (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Martín, Javier (Universidad de Granada) ;
Sawalha, Amr H. (University of Michigan) ;
Universitat Autònoma de Barcelona
Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. [...]
2017 - 10.1038/srep43953
Scientific reports, Vol. 7 (03 2017)
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5.
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9 p, 593.6 KB |
A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility
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González-Serna, David (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Carmona, Elio G. (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Ortego-Centeno, Norberto (Hospital Clínico San Cecilio) ;
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hernández-Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Tolosa, Carlos (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Castañeda, Santos (Instituto de Investigación Hospital Universitario de la Princesa) ;
Narváez, Javier (Institut d'Investigació Biomèdica de Bellvitge) ;
Martinez-Valle, Ferran (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Witte, Torsten (Hannover Medical School, Hannover) ;
Neumann, Thomas (Jena University Hospital (Alemanya)) ;
Holle, Julia (Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt) ;
Beretta, Lorenzo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Boiardi, Luigi (Azienda Ospedaliera Arcispedale Santa Maria Nuova) ;
Emmi, Giacomo (University of Florence) ;
Cimmino, Marco Amedeo (University of Genova) ;
Vaglio, Augusto (Meyer Children's University Hospital) ;
Herrick, Ariane L. (The University of Manchester) ;
Denton, Christopher P. (Royal Free and University College Medical School) ;
Salvarani, Carlo (Azienda USL-IRCCS di Reggio Emilia and Università di Modena e Reggio Emilia) ;
Cid, María Cinta (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Morgan, Ann W. (University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit) ;
Fonseca, Carmen (University College Medical School) ;
Gonzalez-Gay, MA (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Márquez, Ana (Hospital Clínico San Cecilio) ;
Universitat Autònoma de Barcelona
The TNFSF13B (TNF superfamily member 13b) gene encodes BAFF, a cytokine with a crucial role in the differentiation and activation of B cells. An insertion-deletion variant (GCTGT→A) of this gene, leading to increased levels of BAFF, has been recently implicated in the genetic predisposition to several autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. [...]
2018 - 10.1371/journal.pone.0209343
PloS one, Vol. 13 (december 2018)
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6.
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13 p, 1.4 MB |
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status
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Lyons, Paul A. (Uniit)) ;
Peters, James E. (Health Data Research UK) ;
Alberici, Federico (University of Milano) ;
Liley, James (Cambridge Institute of Public Health) ;
Coulson, Richard M. R. (University of Cambridge School of Clinical Medicine. University of Cambridge) ;
Astle, William (NHS Blood and Transplant) ;
Baldini, Chiara (University of Pisa) ;
Bonatti, Francesco (University Hospital of Parma) ;
Cid, María Cinta (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Elding, Heather (Wellcome Trust Sanger Institute (Regne Unit)) ;
Emmi, Giacomo (University of Firenze) ;
Epplen, Jörg (Ruhr University Bochum) ;
Guillevin, Loïc (Hôpital Cochin) ;
Jayne, David R. W. (University of Cambridge School of Clinical Medicine) ;
Jiang, Tao (University of Cambridge) ;
Gunnarsson, Iva (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Lamprecht, Peter (University of Lübeck) ;
Leslie, Stephen (Data Science. Murdoch Children's Research Institute) ;
Little, Mark A. (Tallaght Hospital) ;
Martorana, Davide (University Hospital of Parma) ;
Moosig, Frank (Rheumazentrum Schleswig-Holstein Mitte) ;
Neumann, Thomas (Department of Rheumatology. Immunology and Rehabilitation. Cantonal Hospital St. Gallen) ;
Ohlsson, Sophie (Department of Nephrology. Division of Clinical Sciences. Lund University) ;
Quickert, Stefan (Department of Internal Medicine 4 (Gastroenterology. Hepatology. and Infectious Diseases). Jena University Hospital) ;
Ramirez, Giuseppe A. (Unit of Immunology. Rheumatology. Allergy and Rare Diseases. Università Vita Salute San Raffaele and IRCCS Ospedale San Raffaele) ;
Rewerska, Barbara (Jagiellonian University Medical College) ;
Schett, George (Department of Internal Medicine 3. Rheumatology and Immunology. Friedrich Alexander University Erlangen-Nuremberg and Universitatsklinikum Erlangen) ;
Sinico, Renato A. (Università degli Studi di Milano-Bicocca) ;
Szczeklik, Wojciech (Jagiellonian University Medical College) ;
Tesar, Vladimir (Charles University) ;
Vukcevic, Damjan (Murdoch Children's Research Institute) ;
Akil, Mohammed (Sheffield Royal Hallamshire Hospital) ;
Barratt, Jonathan (University of Leicester) ;
Basu, Neil (University of Glasgow) ;
Butterworth, Adam (University of Cambridge) ;
Bruce, Ian (The University of Manchester) ;
Clarkson, Michael (Cork University Hospital) ;
Conlon, Niall (St James' Hospital Dublin) ;
DasGupta, Bhaskar (Southend University Hospital) ;
Doulton, Timothy W. R. (EKent and Canterbury Hospital) ;
Espígol-Frigolé, Georgina (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Flossmann, Oliver (Royal Berkshire Hospital NHS Trust) ;
Gabrielli, Armando (Ospedali Riuniti-Università) ;
Gasior, Jolanta (University Hospital. Department of allergy and immunology) ;
Gregorini, Gina (Nephrology Unit. Spedali Civili) ;
Guida, Giuseppe (ASL TO2 Birago di Vische Hospital) ;
Hernández Rodríguez, José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hruskova, Zdenka (Charles University) ;
Hudson, Amy (Data Science. Murdoch Children's Research Institute) ;
Knight, Ann (Department of Medical Sciences. Uppsala University) ;
Lanyon, Peter (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Luqmani, Raashid (Nuffield Orthopaedic Centre) ;
Magliano, Malgorzata (Stoke Mandeville Hospital) ;
Manfredi, Angelo A. (Università Vita Salute San Raffaele and IRCCS Ospedale San Raffaele) ;
Marguerie, Christopher (South Warwickshire NHS Foundation Trust) ;
Maritati, Federica (University of Firenze) ;
Marvisi, Chiara (University of Firenze) ;
McHugh, Neil J. (Royal National Hospital for Rheumatic Disease) ;
Molloy, Eaminn (St Vincent's Hospital Dublin) ;
Motyer, Allan (University of Melbourne) ;
Mukhtyar, Chetan (Norfolk and Norwich University Hospital) ;
Padyukov, Leonid (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Pesci, Alberto (University of Milano Bicocca) ;
Prieto-Gonzalez, Sergio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ramentol-Sintas, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Reis, Petra (Friedrich Alexander University Erlangen-Nuremberg) ;
Roccatello, Dario (University of Torino) ;
Rovere-Querini, Patrizia (Jena University Hospital (Alemanya)) ;
Salvarani, Carlo (Università di Modena e Reggio Emilia) ;
Santarsia, Francesca (University Hospital of Parma) ;
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Soranzo, Nicole (University of Cambridge) ;
Taylor, Jo (Dorset County Hospital) ;
Wessels, Julie (Royal Stoke University Hospital) ;
Zwerina, Jochen (Friedrich Alexander University Erlangen-Nuremberg and Universitatsklinikum Erlangen) ;
Terrier, Benjamin (Service de Médecine Interne. Hôpital Cochin) ;
Watts, Richard A. (Norwich Medical School. University of East Anglia) ;
Vaglio, Augusto (University of Firenze) ;
Holle, Julia U. (Rheumazentrum Schleswig-Holstein Mitte) ;
Wallace, Chris (Cambridge Institute of Public Health) ;
Smith, Kenneth G. C. (Jeffrey Cheah Biomedical Centre University of Cambridge) ;
Universitat Autònoma de Barcelona
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). [...]
2019 - 10.1038/s41467-019-12515-9
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 5120
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