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1.
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18 p, 9.8 MB |
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses
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Rodríguez-Ubreva, J. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Arutyunyan, A. (University of Cambridge) ;
Bonder, M.J. (German Cancer Research Center) ;
Del Pino-Molina, L. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Clark, S.J. (Babraham Institute) ;
de la Calle-Fabregat, Carlos (Institut d'Investigació Biomèdica de Bellvitge) ;
Garcia-Alonso, L. (CeWellcome Sanger Institute) ;
Handfield, L.F. (Wellcome Trust Sanger Institute (Regne Unit)) ;
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") ;
Krueger, F. (Babraham Institute) ;
Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rodríguez-Cortez, V.C. (Institut d'Investigació Biomèdica de Bellvitge) ;
Polanski, K. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Mamanova, L. (Wellcome Trust Sanger Institute (Regne Unit)) ;
van Dongen, S. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Kiselev, V.Y. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Martínez-Saavedra, M.T. (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Heyn, Holger (Universitat Pompeu Fabra) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Warnatz, K. (University of Freiburg) ;
López-Granados, E. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Rodríguez-Gallego, C. (University Fernando Pessoa) ;
Stegle, O. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Kelsey, G. (Babraham Institute) ;
Vento Tormo, Roser (University of Cambridge) ;
Ballestar, Esteban (East China Normal University) ;
Universitat Autònoma de Barcelona
Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetrance and ample phenotypic expressivity in CVID suggest the participation of additional pathogenic mechanisms. [...]
2022 -  10.1038/s41467-022-29450-x
Nature communications, Vol. 13 Núm. 1 (december 2022) , p. 1779
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2.
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18 p, 3.8 MB |
Integrative epigenomics in Sjögren's syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature
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Teruel, María (Universidad de Granada) ;
Barturen, Guillermo (Universidad de Granada) ;
Martínez-Bueno, Manuel (Universidad de Granada) ;
Castellini-Pérez, Olivia (Universidad de Granada) ;
Barroso-Gil, Miguel (Universidad de Granada) ;
Povedano, Elena (Universidad de Granada) ;
Kerick, Martin (Consejo Superior de Investigaciones Científicas) ;
Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Makowska, Zuzanna (Bayer Pharma) ;
Buttgereit, Anne (Bayer Pharma) ;
Beretta, Lorenzo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Vigone, Barbara (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Pers, Jacques Olivier (Hospital de la Cavale Blanche) ;
Saraux, Alain (Hospital de la Cavale Blanche) ;
Devauchelle-Pensec, Valérie (Hospital de la Cavale Blanche) ;
Cornec, Divi (Hospital de la Cavale Blanche) ;
Jousse-Joulin, Sandrine (Hospital de la Cavale Blanche) ;
Lauwerys, Bernard (Université catholique de Louvain) ;
Ducreux, Julie (Université Catholique de Louvain) ;
Maudoux, Anne Lise (Université catholique de Louvain) ;
Vasconcelos, Carlos (Centro Hospitalar do Porto) ;
Tavares, Ana (Centro Hospitalar do Porto) ;
Neves, Esmeralda (Centro Hospitalar e Universitário do Porto) ;
Faria, Raquel (Centro Hospitalar do Porto) ;
Brandão, Mariana (Centro Hospitalar do Porto) ;
Campar, Ana (Centro Hospitalar do Porto) ;
Marinho, António (Centro Hospitalar do Porto) ;
Farinha, Fátima (Centro Hospitalar do Porto) ;
Almeida, Isabel (Centro Hospitalar do Porto) ;
Gozalez-Gay Mantecón, Miguel Angel (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Blanco, Ricardo (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Corrales Martínez, Alfonso (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Cervera, Ricard (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rodríguez-Pintó, Ignasi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Espinosa, Gerard (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Lories, Rik (Katholieke Universiteit Leuven) ;
De Langhe, Ellen (University Hospitals Leuven (Bèlgica)) ;
Hunzelmann, Nicolas (Klinikum der Universitaet zu Koeln) ;
Belz, Doreen (Klinikum der Universitaet zu Koeln) ;
Witte, Torsten (Medical University Hannover) ;
Baerlecken, Niklas (Medizinische Hochschule Hannover) ;
Stummvoll, Georg (Medical University Vienna) ;
Zauner, Michael (Medical University Vienna) ;
Lehner, Michaela (Medical University Vienna) ;
Collantes Estevéz, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Ortega-Castro, Rafaela (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Aguirre, Mª Angeles (Hospital Universitario "Reina Sofía" (Còrdova, Espanya)) ;
Escudero-Contreras, Alejandro (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Castro-Villegas, Ma Carmen (Hospital Universitario San Cecilio (Granada)) ;
Ortego, Norberto (Complejo Hospitalario Universitario de Granada) ;
Fernández Roldán, María Concepción (Complejo Hospitalario Universitario de Granada) ;
Raya, Enrique (Complejo Hospitalario Universitario de Granada) ;
Jiménez Moleón, Inmaculada (Complejo Hospitalario Universitario de Granada) ;
de Ramon, Enrique (Hospital Regional Universitario de Málaga) ;
Díaz Quintero, Isabel (Hospital Regional Universitario de Málaga) ;
Meroni, Pier Luigi (Università degli studi di Milano) ;
Gerosa, Maria (Università degli studi di Milano) ;
Schioppo, Tommaso (Università degli studi di Milano) ;
Artusi, Carolina (Università degli studi di Milano) ;
Chizzolini, Carlo (University Hospital and School of Medicine) ;
Zuber, Aleksandra (Hospitaux Universitaires de Genève) ;
Wynar, Donatienne (Hospitaux Universitaires de Genève) ;
Kovács, Laszló (University of Szeged) ;
Balog, Attila (University of Szeged) ;
Deák, Magdolna (University of Szeged) ;
Bocskai, Márta (University of Szeged) ;
Dulic, Sonja (University of Szeged) ;
Kádár, Gabriella (University of Szeged) ;
Hiepe, Falk (Charite) ;
Gerl, Velia (Charité University Hospital) ;
Thiel, Silvia (Charité University Hospital) ;
Rodriguez Maresca, Manuel (Andalusian Public Health System Biobank) ;
López-Berrio, Antonio (Andalusian Public Health System Biobank) ;
Aguilar-Quesada, Rocío (Andalusian Public Health System Biobank) ;
Navarro-Linares, Héctor (Andalusian Public Health System Biobank) ;
Álvarez, Montserrat (Immunology and Allergy. University Hospital and School of Medicine) ;
Alvarez‑Errico, Damiana (Institut d'Investigació Biomèdica de Bellvitge) ;
Azevedo, Nancy (Centro Hospitalar e Universitário do Porto) ;
Barbarroja, Nuria (Bayer Pharma) ;
Buttgereit, Anne (Bayer Pharma) ;
Cheng, Qingyu (Charité University Hospital) ;
Chizzolini, Carlo (University Hospital and School of Medicine) ;
Cremer, Jonathan (KU Leuven) ;
De Groof, Aurélie (Université Catholique de Louvain) ;
De Langhe, Ellen (University Hospitals Leuven (Bèlgica)) ;
Ducreux, Julie (Université Catholique de Louvain) ;
Dufour, Aleksandra (University Hospital and School of Medicine) ;
Gerl, Velia (Charité University Hospital) ;
Hernandez‑Fuentes, Maria (UCB) ;
Khodadadi, Laleh (Charité University Hospital) ;
Kniesch, Katja (Medical University Hannover) ;
Li, Tianlu (Charité University Hospital) ;
Lopez‑Pedrera, Chary (Université Catholique de Louvain) ;
Makowska, Zuzanna (Bayer Pharma) ;
Marañón, Concepción (Universidad de Granada) ;
Muchmore, Brian (Universidad de Granada) ;
Neves, Esmeralda (Centro Hospitalar e Universitário do Porto) ;
Rouvière, Bénédicte (University of Brest) ;
Simon, Quentin (University of Brest) ;
Trombetta, Elena (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Varela, Nieves (Medical University Hannover) ;
Witte, Torsten (Medical University Hannover) ;
Pers, Jacques Olivier (Hospital de la Cavale Blanche) ;
Marañón, Concepción (Universidad de Granada) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martin, Javier (Consejo Superior de Investigaciones Científicas) ;
Carnero-Montoro, Elena (Universidad de Granada) ;
Alarcón-Riquelme, Marta E (Karolinska Institutet (Estocolm, Suècia)) ;
Universitat Autònoma de Barcelona
Primary Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors involved. [...]
2021 - 10.1038/s41598-021-01324-0
Scientific reports, Vol. 11 Núm. 1 (december 2021) , p. 23292
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3.
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22 p, 5.6 MB |
Epigenetic and transcriptomic reprogramming in monocytes of severe COVID-19 patients reflects alterations in myeloid differentiation and the influence of inflammatory cytokines
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Godoy-Tena, Gerard (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Barmada, Anis (University of Cambridge. Department of Medical Genetics) ;
Morante-Palacios, Octavio (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
de la Calle-Fabregat, Carlos (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martins-Ferreira, Ricardo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ferreté-Bonastre, Anna G. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ciudad, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ruiz-Sanmartín, Adolfo (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron) ;
Ferrer, Ricard (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Ruiz-Rodriguez, Juan Carlos (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Rodríguez-Ubreva, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Vento-Tormo, Roser (Wellcome Sanger Institute. Wellcome Genome Campus, Hinxton, UK) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe and critical. Severe and critical COVID-19 patients are characterized by marked changes in the myeloid compartment, especially monocytes. [...]
2022 - 10.1186/s13073-022-01137-4
Genome Medicine, Vol. 14 (november 2022)
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4.
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5.
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13 p, 3.1 MB |
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds
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Naval-Sanchez, Marina (CSIRO. Agriculture and Food) ;
Nguyen, Quan (CSIRO. Agriculture and Food) ;
McWilliam, Sean (CSIRO. Agriculture and Food) ;
Porto-Neto, Laercio R. (CSIRO. Agriculture and Food) ;
Tellam, Ross (CSIRO. Agriculture and Food) ;
Vuocolo, Tony (CSIRO. Agriculture and Food) ;
Reverter, Antonio (CSIRO. Agriculture and Food) ;
Perez-Enciso, Miguel (Centre de Recerca en Agrigenòmica) ;
Brauning, Rudiger (AgResearch Ltd. Invermay Agricultural Centre) ;
Clarke, Shannon (AgResearch Ltd. Invermay Agricultural Centre) ;
McCulloch, Alan (AgResearch Ltd. Invermay Agricultural Centre) ;
Zamani, Wahid (Tarbiat Modares University. Department of Environmental Sciences) ;
Naderi, Saeid (University of Guilan. Natural Resources Faculty) ;
Rezaei, Hamid Reza (Gorgan University of Agricultural Sciences and Natural Resources. Environmental Science Department) ;
Pompanon, Francois (Université Grenoble Alpes. Laboratoire d'Ecologie Alpine) ;
Taberlet, Pierre (Université Grenoble Alpes. Laboratoire d'Ecologie Alpine) ;
Worley, Kim C. (Baylor College of Medicine. Human Genome Sequencing Center. Department of Human and Molecular Genetics) ;
Gibbs, Richard A. (Baylor College of Medicine. Human Genome Sequencing Center. Department of Human and Molecular Genetics) ;
Muzny, Donna M. (Baylor College of Medicine. Human Genome Sequencing Center. Department of Human and Molecular Genetics) ;
Jhangiani, Shalini N. (Baylor College of Medicine. Human Genome Sequencing Center. Department of Human and Molecular Genetics) ;
Cockett, Noelle (Utah State University) ;
Daetwyler, Hans (La Trobe University. School of Applied Systems Biology) ;
Kijas, James (CSIRO. Agriculture and Food)
Domestication fundamentally reshaped animal morphology, physiology and behaviour, offering the opportunity to investigate the molecular processes driving evolutionary change. Here we assess sheep domestication and artificial selection by comparing genome sequence from 43 modern breeds (Ovis aries) and their Asian mouflon ancestor (O. [...]
2018 - 10.1038/s41467-017-02809-1
Nature communications, Vol. 9 Núm. 859 (2018)
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6.
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16 p, 2.3 MB |
Comparative analysis of Ralstonia solanacearum methylomes
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Erill, Ivan (Centre de Recerca en Agrigenòmica) ;
Puigvert, Marina (Centre de Recerca en Agrigenòmica) ;
Legrand, Ludovic (Institut National de la Recherche Agronomique (França)) ;
Guarischi-Sousa, Rodrigo (Universidade de São Paulo. Departamento de Bioquímica) ;
Vandecasteele, Céline (Institut National de la Recherche Agronomique (França)) ;
Setuba, João C. (Universidade de São Paulo. Departamento de Bioquímica) ;
Genin, Stephane (Institut National de la Recherche Agronomique (França)) ;
Guidot, Alice (Institut National de la Recherche Agronomique (França)) ;
Valls, Marc (Centre de Recerca en Agrigenòmica)
Ralstonia solanacearum is an important soil-borne plant pathogen with broad geographical distribution and the ability to cause wilt disease in many agriculturally important crops. Genome sequencing of multiple R. [...]
2017 - 10.3389/fpls.2017.00504
Frontiers in plant science, Vol. 28 (April 2017) , art. 504
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