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9 p, 593.6 KB A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility / 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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