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Nature Communications, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 4955 - 14
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide... 
VISUALIZATION | METAANALYSIS | VARIANTS | AUTOIMMUNITY | HUMAN-CELLS | ANNOTATION | GENES | CLASSIFICATION | GENOME-WIDE ASSOCIATION | REVEALS | MULTIDISCIPLINARY SCIENCES | Vascular diseases | Target recognition | Pathways | Systemic sclerosis | Fibrosis | Rheumatic diseases | Genomes | Functional analysis | Autoimmune diseases | Loci | transcription factor | mitochondrial ribosomal protein s7 | c terminal src kinase | Medical and Health Sciences | single nucleotide polymorphism | major clinical study | interleukin 12 receptor subunit beta 2 | epigenetics | interleukin 12 receptor subunit beta 1 | Bayesian network | complexin 3 | cell component | Basic Medicine | nucleoporin 85 | cell expansion | post GPI attachment to proteins 3 | proteasome 26S subunit, non-ATPase 3 | Clinical Medicine | genetic analysis | diacylglycerol kinase theta | protein acetylation | centromere antibody | fibrosis | ribonuclease P and MRP subunit p25 | T lymphocyte | ORMDL sphingolipid biosynthesis regulator 3 | TNFAIP3 interacting protein 1 | gasdermin A | unclassified drug | cohort analysis | Medicin och hälsovetenskap | Reumatologi och inflammation | Article | zona pellucida binding protein 2 | gene identification | CD4+ T lymphocyte | cell | Klinisk medicin | Rheumatology and Autoimmunity | Medicinsk genetik | Medical Genetics | phosphopantothenoylcysteine decarboxylase | Rho GTPase activating protein 31 | STAT4 protein | systemic sclerosis | immune response | rheumatic disease | human | molecular genetics | meta-analysis | histone 3 lysine 27 | cluster of differentiation 247 | risk factor | interferon consensus sequence binding protein | gene locus | genome | lectin, mannose binding 1 like | disease incidence | controlled study | vascular disease | genome-wide association study | Medicinska och farmaceutiska grundvetenskaper | mortality
Journal Article
by Mayes, Maureen D and Bossini-Castillo, Lara and Gorlova, Olga and Martin, José Ezequiel and Zhou, Xiaodong and Chen, Wei V and Assassi, Shervin and Ying, Jun and Tan, Filemon K and Arnett, Frank C and Reveille, John D and Guerra, Sandra and Teruel, María and Carmona, Francisco David and Gregersen, Peter K and Lee, Annette T and López-Isac, Elena and Ochoa, Eguzkine and Carreira, Patricia and Simeón, Carmen Pilar and Castellví, Iván and González-Gay, Miguel Ángel and Ortego-Centeno, Norberto and Ríos, Raquel and Callejas, José Luis and Navarrete, Nuria and García Portales, Rosa and Camps, María Teresa and Fernández-Nebro, Antonio and González-Escribano, María F and Sánchez-Román, Julio and García-Hernández, Francisco José and Castillo, María Jesús and Aguirre, María Ángeles and Gómez-Gracia, Inmaculada and Fernández-Gutiérrez, Benjamín and Rodríguez-Rodríguez, Luis and Vicente, Esther and Andreu, José Luis and Fernández de Castro, Mónica and García de la Peña, Paloma and López-Longo, Francisco Javier and Martínez, Lina and Fonollosa, Vicente and Espinosa, Gerard and Tolosa, Carlos and Pros, Anna and Rodríguez Carballeira, Mónica and Narváez, Francisco Javier and Rubio Rivas, Manel and Ortiz Santamaría, Vera and Díaz, Bernardino and Trapiella, Luis and Freire, María del Carmen and Sousa, Adrián and Egurbide, María Victoria and Fanlo Mateo, Patricia and Sáez-Comet, Luis and Díaz, Federico and Hernández, Vanesa and Beltrán, Emma and Román-Ivorra, José Andrés and Grau, Elena and Alegre Sancho, Juan José and Blanco García, Francisco J and Oreiro, Natividad and Fernández Sueiro, Luis and Zhernakova, Alexandra and Padyukov, Leonid and Alarcón-Riquelme, Marta and Wijmenga, Cisca and Brown, Matthew and Beretta, Lorenzo and Riemekasten, Gabriela and Witte, Torsten and Hunzelmann, Nicolas and Kreuter, Alexander and Distler, Jörg H.W and Voskuyl, Alexandre E and Schuerwegh, Annemie J and Hesselstrand, Roger and Nordin, Annika and Airó, Paolo and Lunardi, Claudio and Shiels, Paul and van Laar, Jacob M and Herrick, Ariane and Worthington, Jane and Denton, Christopher and Wigley, Fredrick M and Hummers, Laura K and Varga, John and Hinchcliff, Monique E and Baron, Murray and Hudson, Marie and Pope, Janet E and Furst, Daniel E and Khanna, Dinesh and Phillips, Kristin and Schiopu, Elena and ... and the Spanish Scleroderma Group and Spanish Scleroderma Grp and Spanish Scleroderma Group
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 47 - 61
In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and... 
RHEUMATOID-ARTHRITIS | FUNCTIONAL POLYMORPHISM | DNASE-GAMMA | JAPANESE POPULATION | PRIMARY BILIARY-CIRRHOSIS | DISEASE | LUPUS-ERYTHEMATOSUS | FOLLOW-UP | GENETIC RISK-FACTOR | GENOME-WIDE ASSOCIATION | VARIANTS | GENETICS & HEREDITY | STAT4 | WHOLE-GENOME ASSOCIATION | IRF5 | WIDE ASSOCIATION | PRDM1 | Microtubule-Associated Proteins - genetics | Humans | Male | Genetic Loci | HLA Antigens - genetics | Case-Control Studies | Microchip Analytical Procedures | Female | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Risk Factors | Scleroderma, Systemic - genetics | Genotype | Logistic Models | Proto-Oncogene Proteins - genetics | Chromosomes, Human, Pair 11 - genetics | Interleukin-12 Subunit p35 - genetics | Linkage Disequilibrium | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Endodeoxyribonucleases - genetics | Autophagy-Related Protein 5 | Alleles | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 3 - genetics | Immunogenetics | Systemic scleroderma | Scleroderma (Disease) | Physiological aspects | Genetic aspects | Disease susceptibility | Research | Gene expression | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
by González-Serna, David and Ochoa, Eguzkine and López-Isac, Elena and Julià, Antonio and Degenhardt, Frauke and Ortego-Centeno, Norberto and Radstake, Timothy R.D.J and Franke, Ane and Marsal, Sara and Mayes, Maureen D and Martín, Javier and Márquez, Ana and Assassi, Shervin and Zhou, Xiaodong and Tan, Filemon K and Arnett, Frank C and Reveille, John D and Gorlova, Olga and Chen, Wei V and Ying, Jun and Gregersen, Peter K and Lee, Annette T and Voskuyl, Alexane E and de Vries-Bouwstra, Jeska and Magro-Checa, Cesar and Broen, Jasper and Koeleman, Bobby P.C and Simeón, Carmen P and Fonollosa, Vicente and Guillén, Alfredo and Carreira, Patricia and Castellví, Iván and González-Gay, Miguel A and Ríos, Raquel and Callejas-Rubio, Jose Luis and Vargas-Hitos, José A and García-Portales, Rosa and Camps, María Teresa and Fernández-Nebro, Antonio and González-Escribano, María F and García-Hernández, Francisco José and Castillo, Ma Jesús and Aguirre, Ma Ángeles and Gómez-Gracia, Inmaculada and Roíguez-Roíguez, Luis and Fernández-Gutiérrez, Benjamín and de la Peña, Paloma García and Vicente, Esther and Aneu, José Luis and Fernández de Castro, Mónica and López-Longo, Francisco Javier and Martínez, Lina and Espinosa, Gerard and Tolosa, Carlos and Pros, Anna and Roíguez-Carballeira, Mónica and Narváez, Francisco Javier and Rubio-Rivas, Manel and Ortiz-Santamaría, Vera and Maoñero, Ana Belén and Díaz, Bernardino and Trapiella, Luis and Sousa, Aián and Egurbide, María Victoria and Fanlo-Mateo, Patricia and Sáez-Comet, Luis and Díaz-González, Federico and Hernández, Vanesa and Beltrán, Emma and Román-Ivorra, José Anés and Grau, Elena and Alegre-Sancho, Juan José and Blanco-García, Francisco J and Oreiro, Natividad and Freire, Mayka and Balsa, Alejano and Ortiz, Ana M and Hunzelmann, Nicolas and Riemekasten, Gabriela and Distler, Jörg H.W and Witte, Torsten and Airó, Paolo and Beretta, Lorenzo and Santaniello, Alessano and Bellocchi, Chiara and Lunardi, Claudio and Moroncini, Gianluca and Gabrielli, Armando and Scleroderma Genetic Consortium
Scientific Reports, ISSN 2045-2322, 12/2020, Volume 10, Issue 1, pp. 1 - 11
Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some... 
General | Disease | Stat3 protein | Chromosome 6 | Interleukin 12 | Genomes | Single-nucleotide polymorphism | Interferon regulatory factor 1 | Gene expression | Genetic variance | Molecular modelling | Systemic sclerosis | Interleukin 1 | Interferon | Health risk assessment
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 9, pp. 2338 - 2344
Journal Article
by Carmona, F. David and Mackie, Sarah L and Martín, Jose-Ezequiel and Taylor, John C and Vaglio, Augusto and Eyre, Stephen and Bossini-Castillo, Lara and Castañeda, Santos and Cid, Maria C and Hernández-Rodríguez, José and Prieto-González, Sergio and Solans, Roser and Ramentol-Sintas, Marc and González-Escribano, M. Francisca and Ortiz-Fernández, Lourdes and Morado, Inmaculada C and Narváez, Javier and Miranda-Filloy, José A and Martínez-Berriochoa, Agustín and Unzurrunzaga, Ainhoa and Hidalgo-Conde, Ana and Madroñero-Vuelta, Ana B and Fernández-Nebro, Antonio and Ordóñez-Cañizares, M. Carmen and Escalante, Begoña and Marí-Alfonso, Begoña and Sopeña, Bernardo and Magro, César and Raya, Enrique and Grau, Elena and Román, José A and de Miguel, Eugenio and López-Longo, F. Javier and Martínez, Lina and Gómez-Vaquero, Carmen and Fernández-Gutiérrez, Benjamín and Rodríguez-Rodríguez, Luis and Díaz-López, J. Bernardino and Caminal-Montero, Luis and Martínez-Zapico, Aleida and Monfort, Jordi and Tío, Laura and Sánchez-Martín, Julio and Alegre-Sancho, Juan J and Sáez-Comet, Luis and Pérez-Conesa, Mercedes and Corbera-Bellalta, Marc and García-Villanueva, M. Jesús and Fernández-Contreras, M. Encarnación and Sanchez-Pernaute, Olga and Blanco, Ricardo and Ortego-Centeno, Norberto and Ríos-Fernández, Raquel and Callejas, José L and Fanlo-Mateo, Patricia and Martínez-Taboada, Víctor M and Beretta, Lorenzo and Lunardi, Claudio and Cimmino, Marco A and Gianfreda, Davide and Santilli, Daniele and Ramirez, Giuseppe A and Soriano, Alessandra and Muratore, Francesco and Pazzola, Giulia and Addimanda, Olga and Wijmenga, Cisca and Witte, Torsten and Schirmer, Jan H and Moosig, Frank and Schönau, Verena and Franke, Andre and Palm, Øyvind and Molberg, Øyvind and Diamantopoulos, Andreas P and Carette, Simon and Cuthbertson, David and Forbess, Lindsy J and Hoffman, Gary S and Khalidi, Nader A and Koening, Curry L and Langford, Carol A and McAlear, Carol A and Moreland, Larry and Monach, Paul A and Pagnoux, Christian and Seo, Philip and Spiera, Robert and Sreih, Antoine G and Warrington, Kenneth J and Ytterberg, Steven R and Gregersen, Peter K and Pease, Colin T and Gough, Andrew and Green, Michael and Hordon, Lesley and Jarrett, Stephen and Watts, Richard and Levy, Sarah and Patel, Yusuf and ... and Spanish GCA Group and Spanish GCA Grp
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 565 - 580
Journal Article
Clinical and Experimental Rheumatology, ISSN 0392-856X, 2016, Volume 34, Issue 5, pp. 208 - 209
Journal Article
by Ochoa, Eguzkine and Ochoa, Eguzkine and Martin, José-Ezequiel and Martin, José-Ezequiel and Assasi, Shervin and Assassi, Shervin and Beretta, Lorenzo and Beretta, Lorenzo and Carreira, Patricia and Carreira, Patricia and Guillén, Alfredo and Guillén, Alfredo and Simeón, Carmen P.ilar and Simeón, Carmen Pilar and Koumakis, Eugénie and Koumakis, Eugénie and Dieude, Philippe and Dieude, Philippe and Allanore, Yannick and Allanore, Yannick and García-Hernández, Francisco J and García-Hernández, Francisco J and Espinosa, Gerard and Espinosa, Gerard and Castellví, Ivan and Castellví, Ivan and Trapiella, Jose L.uis and Trapiella, Jose Luis and Rodriguez, Luis and Rodriguez, Luis and González-Gay, Miguel Ángel and González-Gay, Miguelángel and Egurbide, María Victoria and Egurbide, María Victoria and Sáez, Luis and Sáez, Luis and Callejas-Rubio, Jose Luis and Callejas-Rubio, Jose L.uis and Vargas-Hitos, Jose Antonio and Vargas-Hitos, Jose A.ntonio and Hunzelmann, Nicolas and Hunzelmann, Nicolas and Riemekasten, Gabriela and Riemekasten, Gabriela and Witte, Torsten and Witte, Torsten and Distler, Jörg H.W and Distler, Jörg H W and Kreuter, Alexander and Kreuter, Alexander and Lunardi, Claudio and Lunardi, Claudio and Santaniello, Alessandro and Santaniello, Alessandro and Tan, Filemon K and Tan, Filemon K and Shiels, Paul G and Shiels, Paul G and Herrick, Ariane and Herrick, Ariane and Worthington, Jane and Worthington, Jane and Vonk, Madelon C and Vonk, Madelon C and Koeleman, Bobby P and Koeleman, Bobby P and Radstake, Timothy R.D.J and Radstake, Timothy R. D J and Mayes, Maureen D and Mayes, Maureen D and Martin, Javier and Martin, Javier and Ortego-Centeno, Norberto and Ríos, Raquel and Granada, Cecilio and Camps, María Teresa and Fernández-Nebro, Antonio and Sánchez-Román, Julio and Castillo, M. Jesús and Aguirre, M. ángeles and Gómez-Gracia, Inmaculada and Fernández-Gutiérrez, Benjamín and Vicente, Esther and Andreu, José Luis and De Castro, Mónica Fernández and De la Peña, Paloma García and López-Longo, Francisco Javier and Martínez, Lina and Fonollosa, Vicente and Tolosa, Carlos and Pros, Anna and Carballeira, Mónica Rodríguez and Narváez, Francisco Javier and Rivas, Manel Rubio and Santamaría, Vera Ortiz and Madroñero, Ana Belén and Díaz, Bernardino and Freire, Mayka and Sousa, Adrián and Mateo, Patricia Fanlo and ... and Spanish Seleroderma Grp and Spanish Scleroderma Group
Clinical and experimental rheumatology, ISSN 0392-856X, 2015, Volume 33, Issue 4, pp. S31 - S35
Journal Article
Medicina Clinica, ISSN 0025-7753, 09/2005, Volume 125, Issue 7, p. 278
Journal Article
by Carmona, F. David and Coit, Patrick and Saruhan-Direskeneli, Güher and Hernández-Rodríguez, José and Cid, María C and Solans, Roser and Castañeda, Santos and Vaglio, Augusto and Direskeneli, Haner and Merkel, Peter A and Boiardi, Luigi and Salvarani, Carlo and González-Gay, Miguel A and Martín, Javier and Sawalha, Amr H and Martínez-Berriochoa, A and Unzurrunzaga, A and Hidalgo-Conde, A and Vuelta, A.B and Fernández-Nebro, A and Ordóñez-Cañizares, M.C and Fernández-Gutiérrez, B and Rodríguez-Rodríguez, L and Escalante, B and Marí-Alfonso, B and Sopeña, B and Gómez-Vaquero, C and Raya, E and Grau, E and Román, J.A and Vicente, E.F and de Miguel, E and López-Longo, F.J and Martínez, L and Morado, I.C and Díaz-López, J.B and Caminal-Montero, L and Martínez-Zapico, A and Narváez, J and Monfort, J and Tío, L and Miranda-Filloy, J.A and Sánchez-Martín, J and Alegre-Sancho, J.J and Sáez-Comet, L and Pérez-Conesa, M and Corbera-Bellalta, M and Ramentol-Sintas, M and García-Villanueva, M.J and Guijarro Rojas, M and Ortego-Centeno, N and Ríos Fernández, R and Callejas, J.L and Sanchez Pernaute, O and Fanlo Mateo, P and Blanco, R and Prieto-González, S and Martínez-Taboada, V.M and Soriano, A and Lunardi, C and Gianfreda, D and Santilli, D and Bonatti, F and Muratore, F and Pazzola, G and Addimanda, O and Emmi, G and Ramirez, G.A and Beretta, L and Govoni, M and Cimmino, M.A and Mesut Onat, A and Cefle, A and Yazici, A and Kısacık, B and Dalkilic, E and Seyahi, E and Fresko, I and Tunc, E and Erken, E and Te Ozer, H and Aksu, K and Keser, G and Ozturk, M.A and Bıcakcıgil, M and Duzgun, N and Karadag, O and Kiraz, S and Pamuk, O.N and Akar, S and Onen, F and Akkoc, N and Kamali, S and Inanc, M and Yentür, S.P and Aydin, S.Z and Alibaz-Oner, F and Kaşifoğlu, T and Cobankara, V and Ozbalkan, Z and ... and Turkish Takayasu Study Grp and Vasculitis Clinical Res Consortium and Italian GCA Study Grp and Spanish GCA Study Grp and Turkish Takayasu Study Group and Italian GCA Study Group and Vasculitis Clinical Research Consortium and Spanish GCA Study Group
Scientific Reports, ISSN 2045-2322, 03/2017, Volume 7, Issue 1, p. 43953
Journal Article