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14 p, 1.2 MB |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
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López-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ;
Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ;
Kerick, Martin (Institute of Parasitology and Biomedicine López-Neyra) ;
Assassi, Shervin (The University of Texas Health Science Center-Houston) ;
Satpathy, Ansuman (Stanford University) ;
Granja, Jeffrey (Stanford University) ;
Mumbach, Maxwell (Stanford University) ;
Beretta, Lorenzo (Referral Center for Systemic Autoimmune Diseases) ;
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ;
Carreira, Patricia E. (Hospital Universitario 12 de Octubre) ;
Ortego-Centeno, Norberto (San Cecilio Clinic University Hospital) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ;
Carmona, F. David (Universidad de Granada) ;
Orozco, Gisela (The University of Manchester) ;
Hunzelmann, Nicolas (University of Cologne) ;
Distler, Jörg H. W. (University of Erlangen-Nuremberg) ;
Franke, Andre (Christian-Albrechts-University of Kiel) ;
Lunardi, Claudio (Università degli Studi di Verona) ;
Moroncini, Gianluca (Università Politecnica delle Marche and Ospedali Riuniti) ;
Gabrielli, Armando (Università Politecnica delle Marche and Ospedali Riuniti) ;
de Vries-Bouwstra, Jeska (Leiden University Medical Center) ;
Wijmenga, Cisca (University of Groningen) ;
Koeleman, Bobby (University Medical Center Utrecht) ;
Nordin, Annika (Karolinska Institutet (Estocolm, Suècia)) ;
Padyukov, Leonid (Karolinska Institutet (Estocolm, Suècia)) ;
Hoffmann-Vold, Anna-Maria (Oslo University Hospital) ;
Lie, Benedicte A. (University of Oslo and Oslo University Hospital) ;
Ríos, Raquel (San Cecilio Clinic University Hospital) ;
Callejas Rubio, Jose Luis (San Cecilio Clinic University Hospital) ;
Vargas-Hitos, José Antonio (Hospital Virgen de las Nieves (Granada, Andalusia)) ;
García-Portales, Rosa (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Camps, María Teresa (Carlos Haya Hospital) ;
Fernández-Nebro, Antonio (Carlos Haya Hospital) ;
González-Escribano, Maria Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Hernández, Francisco Jose (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguirre, Mª Angeles (Hospital Reina Sofía/IMIBIC) ;
Gómez-Gracia, Inmaculada (Hospital Reina Sofía/IMIBIC) ;
Fernández-Gutiérrez, B. (San Carlos Clinic Hospital) ;
Rodríguez-Rodríguez, L. (San Carlos Clinic Hospital) ;
García de la Peña, Paloma (Madrid Norte Sanchinarro Hospital) ;
Vicente-Rabaneda, Esther Francisca (Hospital Universitario de la Princesa (Madrid)) ;
Andréu, José Luis (Puerta de Hierro Hospital-Majadahonda) ;
Fernández de Castro, Mónica (Puerta de Hierro Hospital-Majadahonda) ;
López-Longo, Francisco Javier (Hospital General Universitario Gregorio Marañón) ;
Martínez, Lina Patricia (Hospital General Universitario Gregorio Marañón) ;
Fonollosa, Vicenç (Hospital Universitari Vall d'Hebron) ;
Guillén, Alfredo Chávez (Hospital Universitari Vall d'Hebron) ;
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ;
Tolosa-Vilella, Carles (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Pros, Ana (Hospital del Mar (Barcelona, Catalunya)) ;
Rodríguez-Carballeira, M. (Hospital Universitari MútuaTerrassa) ;
Narváez, Francisco J. (Hospital Universitari de Bellvitge) ;
Rubio Rivas, Manuel (Hospital Universitari de Bellvitge) ;
Ortiz-Santamaría, None (Hospital Granollers) ;
Madroñero, A.B. (Hospital General Universitario San Jorge (Osca, Aragó)) ;
González-Gay, M.A. (Universidad de Cantabria) ;
Díaz, B. (Hospital Universitario Central de Asturias) ;
Trapiella, L. (Hospital Universitario Central de Asturias) ;
Sousa, A. (Hospital Xeral-Complexo Hospitalario Universitario de Vigo) ;
Egurbide, M.V. (Hospital Universitario Cruces) ;
Fanlo-Mateo, P. (Hospital Virgen del Camino (Pamplona)) ;
Sáez-Comet, L. (Hospital Universitario Miguel Servet (Saragossa)) ;
Díaz, F. (Hospital Universitario de Canarias) ;
Hernández, None (Hospital Universitario de Canarias) ;
Beltrán, E. (Hospital General Universitario de Valencia) ;
Román-Ivorra, J.A. (Hospital Universitari i Politècnic La Fe de València) ;
Grau, E. (Hospital Universitari i Politècnic La Fe de València) ;
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset) ;
Freire, M. (Complexo Hospitalario Universitario de Vigo) ;
Blanco-García, F.J (INIBIC-Hospital Universitario A Coruña) ;
Oreiro, N. (INIBIC-Hospital Universitario A Coruña) ;
Witte, T. (Hannover Medical School) ;
Kreuter, A. (Ruhr University Bochum) ;
Riemekasten, G. (University of Lübeck) ;
Airò, Paolo (Service of Rheumatology and Clinic Immunology Spedali Civili) ;
Magro-Checa, César (Leiden University Medical Center) ;
Voskuyl, A.E. (Amsterdam UMC. University Medical Center) ;
Vonk, Madelon C. (Radboud University Nijmegen Medical Center) ;
Hesselstrand, Roger (Lund University) ;
Proudman, Susanna (Royal Adelaide Hospital and University of Adelaide) ;
Stevens, Wendy (St. Vincent's Hospital) ;
Nikpour, Mandana (The University of Melbourne at St. Vincent's Hospital) ;
Zochling, Jane M. (University of Tasmania) ;
Sahhar, Joanne (Monash Medical Centre) ;
Roddy, Janet (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ;
Nash, Peter (Sunshine Coast Rheumatology) ;
Tymms, Kathleen (Canberra Rheumatology) ;
Rischmueller, Maureen (The Queen Elizabeth Hospital) ;
Lester, S. (The Queen Elizabeth Hospital) ;
Vyse, Timothy (King's College London) ;
Herrick, Ariane (NIHR Manchester Biomedical Research Centre) ;
Worthington, Jane (The University of Manchester) ;
Denton, Christopher P (Royal Free and University College Medical School) ;
Allanore, Yannick (Paris Descartes University) ;
Brown, Matthew A. (Princess Alexandra Hospital) ;
Radstake, Timothy R. D. J. (University Medical Center Utrecht) ;
Fonseca, Carmen (Royal Free and University College Medical School) ;
Chang, Howard Y. (Stanford University) ;
Mayes, Maureen D (The University of Texas Health Science Center-Houston) ;
Martín, Javier (Institute of Parasitology and Biomedicine López-Neyra) ;
Universitat Autònoma de Barcelona
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. [...]
2019 -  10.1038/s41467-019-12760-y
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4955
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17 p, 1.6 MB |
Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci
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Ortiz-Fernández, Lourdes (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carmona, F. David (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Montes-Cano, Marco-Antonio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Lozano, José-Raúl (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Conde-Jaldón, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ortego-Centeno, Norberto (Hospital Clínico San Cecilio) ;
Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Espinosa, Gerard (Hospital Universitari Clínic) ;
Graña, Jenaro (Complejo Hospitalario Universitario de A Coruña) ;
Sánchez-Bursón, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Juliá, María Rosa (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Blanco, Ricardo (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Barnosi-Marín, Ana-Celia (Complejo Hospitalario Torrecárdenas (Almeria)) ;
Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias) ;
Fanlo, Patricia (Hospital Virgen del Camino (Pamplona)) ;
Rodríguez-Carballeira, Mónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Rodriguez-Rodriguez, Luis (Hospital Clínico San Carlos (Madrid)) ;
Camps i Miró, Teresa (Hospital Regional Universitario de Málaga) ;
Castañeda, Santos (Instituto de Investigación Hospital Universitario de la Princesa) ;
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset (València)) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
González-Escribano, María Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Universitat Autònoma de Barcelona
Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. [...]
2016 - 10.1371/journal.pone.0161305
PloS one, Vol. 11 (august 2016)
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9 p, 1.1 MB |
Mutational profile of rare variants in inflammasome-related genes in Behçet disease : A Next Generation Sequencing approach
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Burillo-Sanz, Sergio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Montes-Cano, Marco-Antonio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Lozano, José-Raúl (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ortiz-Fernández, Lourdes (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ortego-Centeno, Norberto (Hospital Clínico San Cecilio) ;
García-Hernández, Francisco-José (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Espinosa, Gerard (Hospital Universitari Clínic) ;
Graña-Gil, Genaro (Complejo Hospitalario Universitario de A Coruña) ;
Sánchez-Bursón, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Juliá, María Rosa (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Solans, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Blanco, Ricardo (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Barnosi-Marín, Ana-Celia (Complejo Hospitalario Torrecárdenas (Almeria)) ;
Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias) ;
Fanlo, Patricia (Hospital Virgen del Camino (Pamplona)) ;
Rodríguez-Carballeira, Mónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Rodriguez-Rodriguez, Luis (Hospital Clínico San Carlos (Madrid)) ;
Camps, Teresa (Hospital Regional Universitario de Málaga) ;
Castañeda, Santos (Instituto de Investigación Hospital Universitario de la Princesa) ;
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset (València)) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
González-Escribano, María Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Universitat Autònoma de Barcelona
Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). [...]
2017 - 10.1038/s41598-017-09164-7
Scientific reports, Vol. 7 (august 2017)
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