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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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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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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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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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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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