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Dipòsit Digital de Documents de la UAB	22 registres trobats 1 - 10 anar al registre:	La cerca s'ha fet en 0.00 segons.

18 p, 2.2 MB

Biochemical, histological and functional correction of mucopolysaccharidosis Type IIIB by intra-cerebrospinal fluid gene therapy / Ribera Sánchez, Albert (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Haurigot Mendonça, Virginia (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Garcia, Miquel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Marcó, Sara (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Motas, Sandra (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Villacampa Alcubierre, Pilar (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Maggioni, Luca (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; León, Xavier (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Molas, María (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Sánchez, Víctor (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Muñoz, Sergio (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Leborgne, Christian (Généthon) ; Moll Sánchez, Xavier (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Mingozzi, Federico (University Pierre and Marie Curie) ; Ruberte, Jesús (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ; Añor Torres, Sònia (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG))
Gene therapy is an attractive tool for the treatment of monogenic disorders, in particular for lysosomal storage diseases (LSD) caused by deficiencies in secretable lysosomal enzymes in which neither full restoration of normal enzymatic activity nor transduction of all affected cells are necessary. [...]
2015 - DOI (Digital Object Identifier)

10.1093/hmg/ddu727
Human Molecular Genetics, Vol. 24 Núm. 7 (28 2015) , p. 2078-2095

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13 p, 1.6 MB

TET2 missense variants in human neoplasia. A proposal of structural and functional classification / Bussaglia, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Antón, Rosa (Institut d'Investigació Biomèdica Sant Pau) ; Nomdedeu, Josep (Institut d'Investigació Biomèdica Sant Pau) ; Fuentes-Prior, Pablo (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The human TET2 gene plays a pivotal role in the epigenetic regulation of normal and malignant hematopoiesis. Somatic TET2 mutations have been repeatedly identified in age-related clonal hematopoiesis and in myeloid neoplasms ranging from acute myeloid leukemia (AML) to myeloproliferative neoplasms. [...]
2019 - DOI (Digital Object Identifier)

10.1002/mgg3.772
Molecular genetics & genomic medicine, Vol. 7 Núm. 7 (july 2019) , p. e00772

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6 p, 524.1 KB

A growth hormone-based phylogenetic analysis of euteleostean fishes including a representative species of the Atheriniformes Order, Odontesthes argentinensis / Marins, L.F. (Universidade Federal Rio Grande. Departamento de Quimica) ; Levy, J.A. (Universidade Federal Rio Grande. Departamento de Quimica) ; Folch, Josep M. (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
The GH (growth hormone) cDNA sequence of the marine silverside fish Odontesthes argentinensis was obtained using the RACE protocol (Rapid Amplification of cDNA Ends). The marine silverside GH cDNA sequence is 928 nucleotides long and was found to encode a polypeptide of 204 amino acids, including a signal peptide of 17 amino acids. [...]
2003 - DOI (Digital Object Identifier)

10.1590/S1415-47572003000300013
Genetics and Molecular Biology, Vol. 26 Núm. 3 (september 2003) , p. 295-300

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8 p, 1.3 MB

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases / Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Moreira, Mónica (Universitat Autònoma de Barcelona) ; Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba) ; Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Giralt López, Maria (Universitat Autònoma de Barcelona) ; Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)
The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. [...]
2023 - DOI (Digital Object Identifier)

10.1016/j.ymgmr.2023.100962
Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962

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17 p, 1.3 MB

Genome-wide association study of circulating interleukin 6 levels identifies novel loci / Ahluwalia, Tarunveer Singh (University of Copenhagen) ; Prins, Bram Peter (University of Groningen) ; Abdollahi, Mohammadreza (University of Groningen) ; Armstrong, Nicola (Murdoch University) ; Aslibekyan, Stella (University of Alabama at Birmingham School of Public Health) ; Bain, Lisa J (Qimr Berghofer Medical Research Institute) ; Jefferis, Barbara (University College London) ; Baumert, Jens (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Beekman, Marian (Leiden University Medical Center) ; Ben-Shlomo, Yoav (University of Bristol) ; Bis, Joshua C (University of Washington) ; Mitchell, Braxton D. (University of Maryland School of Medicine) ; de Geus, Eco J. C (Amsterdam UMC. University Medical Center) ; Delgado, Graciela E. (University of Heidelberg) ; Marek, Diana (Sib Swiss Institute of Bioinformatics) ; Eriksson, Joel (University of Gothenburg) ; Kajantie, Eero (Helsinki University Central Hospital and University of Helsinki) ; Kanoni, Stavroula (Queen Mary University of London) ; Kemp, John P. (University of Bristol) ; Lu, Chen (Boston University School of Public Health) ; Marioni, Riccardo E. (University of Edinburgh) ; McLachlan, Stela (University of Edinburgh) ; Milaneschi, Yuri (Amsterdam Umc. Vrije Universiteit) ; Nolte, Ilja M. (University of Groningen) ; Petrelis, Alexandros M. (Université de Lorraine) ; Porcu, Eleonora (Consiglio Nazionale Delle Ricerche) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Naderi, Elnaz (University of Groningen) ; Seppälä, Ilkka (Tampere University) ; Shah, Tina (University College London) ; Singhal, Gaurav (University of Adelaide) ; Standl, Marie (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Teumer, Alexander (University Medicine Greifswald) ; Thalamuthu, Anbupalam (University of New South Wales) ; Thiering, Elisabeth (Ludwig-Maximilians-University of Munich. Dr. von Hauner Children's Hospital) ; Trompet, Stella (Leiden University Medical Center) ; Ballantyne, Christie M. (Baylor College of Medicine) ; Benjamin, Emelia J. (Boston University School of Medicine) ; Casas, Juan P. (Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Va Boston Healthcare System) ; Toben, Catherine (University of Adelaide) ; Dedoussis, George (Harokopio University) ; Deelen, Joris (Max Planck Institute for Biology of Ageing) ; Durda, Peter (Larner College of Medicine. University of Vermont) ; Engmann, Jorgen (University College London) ; Feitosa, Mary (Washington University School of Medicine) ; Grallert, Harald (German Center for Diabetes Research (DZD)) ; Hammarstedt, Ann (Sahlgrenska Academy at the University of Gothenburg) ; Harris, Sarah E (University of Edinburgh) ; Homuth, Georg (University Medicine Greifswald) ; Hottenga, Jouke Jan (Amsterdam UMC. University Medical Center) ; Jalkanen, Sirpa (University of Turku) ; Jamshidi, Yalda (St George's University of London) ; Jawahar, Magdalene C. (University of Adelaide) ; Jess, Tine (Statens Serum Institute) ; Kivimaki, Mika (University College London) ; Kleber, Marcus E. (University of Heidelberg) ; Lahti, Jari (University of Helsinki) ; Liu, Yongmei (Wake Forest School of Medicine) ; Marques-Vidal, Pedro (University of Lausanne) ; Mellström, Dan (Sahlgrenska Academy at the University of Gothenburg. Centre for Bone and Arthritis Research) ; Mooijaart, Simon P. (Leiden University Medical Center) ; Müller-Nurasyid, Martina (Johhanes Gutenberg University) ; Penninx, Brenda WJH (Amsterdam Umc. Vrije Universiteit) ; Revez, Joana A. (Qimr Berghofer Medical Research Institute) ; Rossing, Peter (University of Copenhagen) ; Raïkkönen, Katri (University of Helsinki) ; Sattar, Naveed (Bhf Glasgow Cardiovascular Research Centre) ; Scharnagl, Hubert (Medical University of Graz) ; Sennblad, Bengt (Uppsala University) ; Silveira, Angela (Karolinska Institutet (Estocolm, Suècia)) ; Pourcain, Beate St (Radboud University) ; Timpson, Nicholas J. (University of Bristol) ; Trollor, Julian (University of New South Wales) ; Van Dongen, Jenny (Amsterdam UMC. University Medical Center) ; Van Heemst, Diana (Baylor College of Medicine) ; Visvikis-Siest, Sophie (Université de Lorraine. Inserm. IGE-PCV) ; Vollenweider, Peter (University of Lausanne) ; Völker, Uwe (University of Turku) ; Waldenberger, Melanie (Helmholtz Zentrum München-German Research Center for Environmental Health) ; Willemsen, Gonneke (Amsterdam UMC. University Medical Center) ; Zabaneh, Delilah (University College London Genetics Institute) ; Morris, Richard W. (Bristol Medical School. University of Bristol) ; Arnett, Donna K. (University of Kentucky) ; Baune, Bernhard T. (University of Melbourne) ; Boomsma, Dorret I. (Amsterdam UMC. University Medical Center) ; Chang, Yen-Pei C. (University of Maryland School of Medicine) ; Deary, Ian J. (University of Edinburgh) ; Deloukas, Panos (Queen Mary University of London) ; Eriksson, Johan G. (University of Helsinki) ; Evans, David M. (University of Bristol) ; Ferreira, Manuel A. (Qimr Berghofer Medical Research Institute) ; Gaunt, Tom (University of Bristol) ; Gudnason, Vilmundur (University of Iceland) ; Hamsten, Anders (Karolinska Institutet (Estocolm, Suècia)) ; Heinrich, Joachim (University of Melbourne) ; Hingorani, Aroon (University College London) ; Humphries, Steve E. (University College London) ; Jukema, J. Wouter (Durrer Center for Cardiogenetic Research) ; Koenig, Wolfgang (University of Ulm) ; Kumari, Meena (University of Essex) ; Kutalik, Zoltan (University of Lausanne) ; Lawlor, Deborah A. (University of Bristol) ; Lehtimäki, Terho (Tampere University) ; März, Winfried (Synlab Academy. Synalb Holding Deutschland GmbH) ; Mather, Karen A (Neuroscience Research Australia) ; Naitza, Silvia. (Consiglio Nazionale Delle Ricerche) ; Nauck, Matthias (Dzhk (German Center for Cardiovascular Research). Partner Site Greifswald) ; Ohlsson, Claes (University of Gothenburg) ; Price, Jackie F. (University of Edinburgh) ; Raitakari, Olli (Turku University Hospital (Finlàndia)) ; Rice, Ken (University of Washington) ; Sachdev, Perminder S. (Prince of Wales Hospital (Australia)) ; Slagboom, Pieternella Eline (Max Planck Institute for Biology of Ageing) ; Sørensen, Thorkild I.A. (University of Copenhagen. Department of Public Health. Section on Epidemiology) ; Spector, Tim (King's College London. Department of Twin Research and Genetic Epidemiology) ; Stacey, David (University of Cambridge) ; Stathopoulou, Maria G. (Université de Lorraine. Inserm. IGE-PCV) ; Tanaka, Toshiko (National Institute on Aging (Estats Units d'Amèrica)) ; Wannamethee, Sasiwarang Goya (University College London) ; Whincup, Peter (University of London) ; Rotter, Jerome I. (The Lundquist Institute at Harbor-UCLA Medical Center) ; Dehghan, Abbas (Erasmus Mc) ; Boerwinkle, Eric (Baylor College of Medicine) ; Psaty, Bruce M. (University of Washington) ; Snieder, Harold (University Medical Center Groningen) ; Alizadeh, Behrooz Ziad (University Medical Center Groningen)
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. [...]
2021 - DOI (Digital Object Identifier)

10.1093/hmg/ddab023
Human Molecular Genetics, Vol. 30 Núm. 5 (january 2021) , p. 393-409

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22 p, 2.2 MB

Detailed stratified GWAS analysis for severe COVID-19 in four European populations / Degenhardt, Frauke (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Ellinghaus, David (Novo Nordisk Foundation Center for Protein Research. University of Copenhagen (Copenhagen, Dinamarca)) ; Juzenas, Simonas (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Lerga Jaso, Jon (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Wendorff, Mareike (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Maya-Miles, Douglas (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Uellendahl-Werth, Florian (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; ElAbd, Hesham (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Rühlemann, Malte C. (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Arora, Jatin (Program in Medical and Population Genetics. Broad Institute of MIT and Harvard (Cambridge, Estats Units)) ; Özer, Onur (Research Group for Evolutionary Immunogenomics. Max Planck Institute for Evolutionary Biology (Plön, Alemanya)) ; Lenning, Ole Bernt (Stavanger University Hospital (Stavanger, Noruega)) ; Myhre, Ronny (Division of Health Data and Digitalization, Department of Genetics and Bioinformatics (HDGB). Norwegian Institute of Public Health (Oslo, Noruega)) ; Vadla, May Sissel (Randaberg Municipality (Stavanger, Noruega)) ; Wacker, Eike M. (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Wienbrandt, Lars (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Blandino Ortiz, Aaron (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria. University of Alcalá (Madrid)) ; de Salazar, Adolfo (Instituto de Investigación Biosanitaria. Hospital Universitario Clínico San Cecilio (Granada, Andalusia)) ; Garrido Chercoles, Adolfo (Servicio Vasco de Salud de Osakidetza. Organización Sanitaria Integrada Donostialdea (Sant Sebastià, País Basc)) ; Palom, Adriana (Hospital Universitari Vall d'Hebron) ; Ruiz, Agustín (Universitat Internacional de Catalunya) ; Garcia-Fernandez, Alba-Estela (Hospital Universitari Vall d'Hebron) ; Blanco-Grau, Albert (Hospital Universitari Vall d'Hebron) ; Mantovani, Alberto (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Zanella, Alberto (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Holten, Aleksander Rygh (Oslo University Hospital. Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Mayer, Alena (Charite Universitätsmedizin (Berlín, Alemanya)) ; Bandera, Alessandra (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Cherubini, Alessandro (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Protti, Alessandro (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Aghemo, Alessio (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Gerussi, Alessio (European Reference Network on Hepatological Diseases. San Gerardo Hospital (Monza, Itàlia)) ; Ramirez, Alfredo (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases. Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Braun, Alice (Charite Universitätsmedizin (Berlín, Alemanya)) ; Nebel, Almut ; Barreira-Diaz, Ana (Hospital Universitari Vall d'Hebron) ; Lleo, Ana (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Teles, Ana (Research Group for Evolutionary Immunogenomics. Max Planck Institute for Evolutionary Biology (Plön, Alemanya)) ; Kildal, Anders Benjamin (University Hospital of North Norway (Tromsø, Noruega)) ; Biondi, Andrea (Centro Tettamanti-European Reference Network. PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale (San Gerardo, Itàlia)) ; Caballero, Andrea (Laboratorio de Análisis Dr. Echevarne (Barcelona)) ; Ganna, Andrea (Institute for Molecular Medicine Finland. University of Helsinki (Helsinki, Finlàndia)) ; Gori, Andrea (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Glück, Andreas (Klinik für Innere Medizin I. Universitätsklinikum Schleswig-Holstein (Kiel, Alemanya)) ; Lind, Andreas (Oslo University Hospital (Olso, Noruega)) ; Tanck, Anja (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Hinney, Anke (University Hospital Essen. University of Duisburg-Essen (Essen, Alemanya)) ; Carreras Nolla, Anna (Institut Germans Trias i Pujol) ; Fracanzani, Anna Ludovica (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Peschuck, Anna (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Cavallero, Annalisa (Laboratory of Microbiology. San Gerardo Hospital (Monza, Itàlia)) ; Dyrhol-Riise, Anne Ma (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Ruello, Antonella (Humanitas Gavazzeni-Castelli (Bergamo, Itàlia)) ; Julià Cano, Antonio ; Muscatello, Antonio (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Pesenti, Antonio (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Voza, Antonio (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Rando-Segura, Ariadna (Hospital Universitari Vall d'Hebron) ; Solier, Aurora (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria. Universidad de Alcalá (Madrid)) ; Schmidt, Axel (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Cortés, Beatriz (Institut Germans Trias i Pujol) ; Mateos, Beatriz (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Nafria-Jimenez, Beatriz (Servicio Vasco de Salud de Osakidetza. Organización Sanitaria Integrada Donostialdea (Sant Sebastià, País Basc)) ; Schaefer, Benedikt (Medical University of Innsbruck (Innsbruck, Àustria)) ; Jensen, Björn (University Hospital Duesseldorf. Medical Faculty Heinrich Heine University (Duesseldorf, Alemanya)) ; Bellinghausen, Carla (University Hospital. Goethe University (Frankfurt am Main, Alemanya)) ; Maj, Carlo (Institute of Genomic Statistics and Bioinformatics. University Hospital Bonn (Bonn, Alemanya)) ; Ferrando, Carlos (Hospital Clínic i Provincial de Barcelona) ; de la Horra, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Quereda, Carmen (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Skurk, Carsten (Charite Universitätsmedizin (Berlín, Alemanya)) ; Thibeault, Charlotte (Charite Universitätsmedizin (Berlín, Alemanya)) ; Scollo, Chiara (San Gerardo Hospital (Monzo, Itàlia)) ; Herr, Christian (University Hospital Saarland (Homburg, Alemanya)) ; Spinner, Christoph D. (University Hospital rechts der Isar. Technical University of Munich (Munich, Alemanya)) ; Gassner, Christoph (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Lange, Christoph (University of Lübeck (Lübeck, Alemanya)) ; Hu, Cinzia (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Paccapelo, Cinzia (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Lehmann, Clara (Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Angelini, Claudio (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Cappadona, Claudio (Humanitas University (Milà, Itàlia)) ; Azuure, Clinton (Research Group for Evolutionary Immunogenomics. Max Planck Institute for Evolutionary Biology (Plön, Alemanya)) ; Bianco, Cristiana (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Cea, Cristina (Hospital Universitari Vall d'Hebron) ; Sancho, Cristina (Hospital Universitario Basurto (Bilbao, País Basc)) ; Hoff, Dag Arne Lihaug (Norwegian University of Science and Technology (Trondheim, Noruega)) ; Galimberti, Daniela (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Prati, Daniele (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Haschka, David (Medical University of Innsbruck (Innsbruck, Àustria)) ; Jiménez Jiménez, David (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria. Universidad de Alcalá (Madrid)) ; Pestaña, David (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Toapanta, David (Hospital Clínic i Provincial de Barcelona) ; Muñíz Díaz, Eduardo (Universitat Autònoma de Barcelona) ; Azzolini, Elena (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Sandoval, Elena (Hospital Clínic i Provincial de Barcelona) ; Binatti, Eleonora (European Reference Network on Hepatological Diseases. San Gerardo Hospital (Monza, Itàlia)) ; Scarpini, Elio (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Helbig, Elisa T. (Charite Universitätsmedizin (Berlín, Alemanya)) ; Casalone, Elisabetta (Università degli Studi di Torino (Turin, Itàlia)) ; Urrechaga, Eloisa (Instituto de Investigación Sanitaria Biobizkaia (Barakaldo, País Basc)) ; Paraboschi, Elvezia Maria (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Pontali, Emanuele (Ente Ospedaliero Ospedali Galliera (Gènova, Itàlia)) ; Reverter, Enric (Hospital Clínic i Provincial de Barcelona) ; Calderón, Enrique J (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Navas, Enrique (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Solligård, Erik (Geminicenter for Sepsis Research. Institute of Circulation and Medical Imaging. Norwegian Univesity of Science and Technology (Trondheim, Noruega)) ; Contro, Ernesto (San Gerardo Hospital (Monza, Itàlia)) ; Arana-Arri, Eunate (Instituto de Investigación Sanitaria Biobizkaia (Barakaldo, País Basc)) ; Aziz, Fátima (Hospital Clínic i Provincial de Barcelona) ; Garcia, Federico (Instituto de Investigación Biosanitaria. Hospital Universitario Clínico San Cecilio (Granada, Andalusia)) ; García Sánchez, Félix (Centro de Transfusión (Madrid)) ; Ceriotti, Ferruccio (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Martinelli-Boneschi, Filippo (Dino Ferrari Center. University of Milan (Milà, Itàlia)) ; Peyvandi, Flora (University of Milan (Milà, Itàlia)) ; Kurth, Florian (Charite Universitätsmedizin (Berlín, Alemanya)) ; Blasi, Francesco (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Malvestiti, Francesco (University of Milan (Milà, Itàlia)) ; Medrano, Francisco J. (Instituto de Biomedicina de Sevilla. Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública (Madrid)) ; Mesonero, Francisco (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Rodríguez Frías, Francisco (Hospital Universitari Vall d'Hebron) ; Hanses, Frank (University Hospital Regensburg (Regensburg, Alemanya)) ; Müller, Fredrik (Oslo University Hospital. Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Hemmrich-Stanisak, Georg (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Bellani, Giacomo (San Gerardo Hospital (Monza, Itàlia)) ; Grasselli, Giacomo (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Pezzoli, Gianni (Fondazione Grigioni per il Morbo di Parkinson and Parkinson Institute. ASST Gaetano Pini-CTO (Milà, Itàlia)) ; Costantino, Giorgio (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Albano, Giovanni (Humanitas Gavazzeni-Castelli (Bergamo, Itàlia)) ; Cardamone, Giulia (Humanitas University (Milà, Itàlia)) ; Bellelli, Giuseppe (University of Milano-Bicocca (Milà, Itàlia)) ; Citerio, Giuseppe (University of Milano-Bicocca (Milà, Itàlia)) ; Foti, Giuseppe (San Gerardo Hospital (Monza, Itàlia)) ; Lamorte, Giuseppe (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Matullo, Giuseppe (Università degli Studi di Torino (Turin, Itàlia)) ; Baselli, Guido (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Kurihara, Hayato (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Neb, Holger (University Hospital Frankfurt (Frankfurt am Main, Alemanya)) ; My, Ilaria ; Kurth, Ingo (Institute of Human Genetics. RWTH Aachen University (Aachen, Alemanya)) ; Hernández, Isabel (Universitat Internacional de Catalunya) ; Pink, Isabell (Hannover Medical School (Hannover, Alemanya)) ; De Rojas, Itziar (Universitat Internacional de Catalunya) ; Galván-Femenía, Iván (Institut Germans Trias i Pujol) ; Holter, Jan Cato (Oslo University Hospital. Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Afset, Jan Egil (Hospital Universitario Basurto (Bilbao, País Basc)) ; Heyckendorf, Jan (University of Lübeck (Lübeck, Alemanya)) ; Kässens, Jan (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Damås, Jan Kristian (St. Olavs Hospital. Trondheim University Hospital (Trondheim, Noruega)) ; Rybniker, Jan (Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Altmüller, Janine (Cologne Center for Genomics. University of Cologne (Colònia, Alemanya)) ; Ampuero, Javier (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Martín, Javier (Instituto de Parasitología y Biomedicina López-Neyra (Granada, Andalusia)) ; Erdmann, Jeanette (Institute for Cardiogenetics. University of Lübeck (Lübeck, Alemanya)) ; Banales, Jesus (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Badia, Joan Ramon (Hospital Clínic i Provincial de Barcelona) ; Dopazo, Joaquín (Instituto de Biomedicina de Sevilla (Sevilla, Andalusia)) ; Schneider, Jochen (University Hospital Saarland (Homburg, Alemanya)) ; Bergan, Jonas (Ostfold Hospital Trust (Gralum, Noruega)) ; Barretina, Jordi (Institut Germans Trias i Pujol) ; Walter, Jörn (Saarland University (Saarbrücken, Alemanya)) ; Hernández Quero, Jose (Instituto de Investigación Biosanitaria (Granada, Andalusia)) ; Goikoetxea, Josune (Instituto de Investigación Sanitaria Biocruces Bizkaia (Biscaia, País Basc)) ; Delgado, Juan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Guerrero, Juan M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Fazaal, Julia (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Kraft, Julia (Charite Universitätsmedizin (Berlín, Alemanya)) ; Schröder, Julia (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Risnes, Kari (Norwegian University of Science and Technology (Trondheim, Noruega)) ; Banasik, Karina (Novo Nordisk Foundation Center for Protein Research. University of Copenhagen (Copenhagen, Dinamarca)) ; Müller, Karl Erik (Drammen Hospital. Vestre Viken Hospital Trust (Drammen, Noruega)) ; Gaede, Karoline I. (Research Center Borstel. BioMaterialBank Nord (Borstel, Alemanya)) ; Garcia-Etxebarria, Koldo (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Tonby, Kristian (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Heggelund, Lars (Drammen Hospital. Vestre Viken Hospital Trust (Drammen, Noruega)) ; Izquierdo-Sanchez, Laura (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Bettini, Laura Rachele (Centro Tettamanti-European Reference Network. PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale (San Gerardo, Itàlia)) ; Sumoy, Lauro (Institut Germans Trias i Pujol) ; Sander, Leif Erik (Charite Universitätsmedizin (Berlín, Alemanya)) ; Lippert, Lena J. (Charite Universitätsmedizin (Berlín, Alemanya)) ; Terranova, Leonardo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Nkambule, Lindokuhle (Massachusetts General Hospital (Boston, Estats Units)) ; Knopp, Lisa (University Hospital Duesseldorf. Medical Faculty Heinrich Heine University (Duesseldorf, Alemanya)) ; Gustad, Lise Tuset (Geminicenter for Sepsis Research. Institute of Circulation and Medical Imaging. Norwegian Univesity of Science and Technology (Trondheim, Noruega)) ; Garbarino, Lucia (Ente Ospedaliero Ospedali Galliera (Gènova, Itàlia)) ; Santoro, Luigi (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Téllez, Luis (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Roade, Luisa (Hospital Universitari Vall d'Hebron) ; Ostadreza, Mahnoosh (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Intxausti, Maider (Hospital Universitario Basurto (Bilbao, País Basc)) ; Kogevinas, M. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Riveiro Barciela, Mar (Hospital Universitari Vall d'Hebron) ; Berger, Marc M. (University Hospital Essen. University Duisburg-Essen (Essen, Alemanya)) ; Schaefer, Marco (Stefan-Morsch-Stiftung (Birkenfeld, Alemanya)) ; Niemi, Mari E. K. (Institute for Molecular Medicine Finland. University of Helsinki (Helsinki, Finlàndia)) ; Gutiérrez-Stampa, María Ángeles (OSI Donostialdea. Biodonostia Instituto de Investigación Sanitaria (Sant Sebastià, País Basc)) ; Carrabba, Maria (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Figuera Basso, Maria E. (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Valsecchi, Maria Grazia (Center of Bioinformatics. Biostatistics and Bioimaging. University of Milano-Bicocca (Milà, Itàlia)) ; Hernandez-Tejero, María (Hospital Clínic i Provincial de Barcelona) ; Vehreschild, Maria J. G. T. (University Hospital Frankfurt & Goethe University Frankfurt (Frankfurt am Main, Alemanya)) ; Manunta, Maria (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine Lopez-Neyra (Granada, Andalusia)) ; D'Angiò, Mariella (Centro Tettamanti-European Reference Network. PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale (San Gerardo, Itàlia)) ; Baldini, Marina (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Cazzaniga, Marina Elena (University of Milano-Bicocca (Monza, Itàlia)) ; Grimsrud, Marit M. (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Cornberg, Markus (Hannover Medical School (Hannover, Alemanya)) ; Nöthen, Markus M. (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Marquié, Marta (Universitat Internacional de Catalunya) ; Castoldi, Massimo (Humanitas Gavazzeni-Castelli (Bergamo, Itàlia)) ; Cordioli, Mattia (Institute for Molecular Medicine Finland. University of Helsinki (Helsinki, Finlàndia)) ; Cecconi, Maurizio (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; D'Amato, Mauro ; Augustin, Max (Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Tomasi, Melissa (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Boada, Mercè (Universitat Internacional de Catalunya) ; Dreher, Michael (University Hospital Aachen (Aachen, Alemanya)) ; Seilmaier, Michael J. (Munich Clinic Schwabing. Academic Teaching Hospital. Ludwig-Maximilians-University (Munich, Alemanya)) ; Joannidis, Michael (Medical University Innsbruck (Innsbruck, Alemanya)) ; Wittig, Michael (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Mazzocco, Michela (Ente Ospedaliero Ospedali Galliera (Gènova, Itàlia)) ; Ciccarelli, Michele (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Rodríguez-Gandía, Miguel (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Bocciolone, Monica (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Miozzo, Monica (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Imaz Ayo, Natale (Instituto de Investigación Sanitaria Biobizkaia (Barakaldo, País Basc)) ; Blay, Natalia (Institut Germans Trias i Pujol) ; Chueca, Natalia (Hospital Universitario Clínico San Cecilio (Granada, Andalusia)) ; Montano, Nicola (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Braun, Nicole (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Ludwig, Nicole (Center of Human and Molecular Biology. University Hospital Saarland (Homburg/Saar, Alemanya)) ; Marx, Nikolaus (RWTH Aachen University Hospital (Aachen, Alemanya)) ; Martínez, Nilda (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; Cornely, Oliver A (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases. Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Witzke, Oliver ; Palmieri, Orazio ; Faverio, Paola (University of Milano-Bicocca (Milà, Itàlia)) ; Preatoni, Paoletta (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Bonfanti, Paolo (University of Milano-Bicocca (Milà, Itàlia)) ; Omodei, Paolo (Humanitas Clinical and Research Center. Istituto di ricovero e cura a carattere scientifico(IRCCS)(Milà, Itàlia)) ; Tentorio, Paolo ; Castro, Pedro (Hospital Clínic i Provincial de Barcelona) ; Rodrigues, Pedro M. (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; España, PP. (Hospital de Galdakao (Galdakao, Biscaia)) ; Hoffmann, Per (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Rosenstiel, Philip (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Schommers, Philipp (Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Suwalski, Phillip (Charite Universitätsmedizin (Berlín, Alemanya)) ; de Pablo, Raúl (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria. University of Alcalá (Madrid)) ; Ferrer, Ricard (Hospital Universitari Vall d'Hebron) ; Bals, Robert (University Hospital Saarland (Homburg, Alemanya)) ; Gualtierotti, Roberta (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Gallego-Durán, Rocío (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Nieto, Rosa (Hospital Universitario Ramón y Cajal. Instituto Ramón y Cajal de Investigación Sanitaria. Universidad de Alcalá (Madrid)) ; Carpani, Rossana (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Morilla, Rubén (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Badalamenti, Salvatore ; Haider, Sammra ; Ciesek, Sandra ; May, Sandra (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Bombace, Sara (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Marsal, Sara (Hospital Universitari Vall d'Hebron) ; Pigazzini, Sara (Institute for Molecular Medicine Finland. University of Helsinki (Helsinki, Finlàndia)) ; Klein, Sebastian (Medical University Innsbruck (Innsbruck, Alemanya)) ; Pelusi, Serena (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Wilfling, Sibylle (Zentrum für Humangenetik Regensburg (Regensburg, Alemanya)) ; Bosari, Silvano (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Volland, Sonja ; Brunak, Søren (Novo Nordisk Foundation Center for Protein Research. University of Copenhagen (Copenhagen, Dinamarca)) ; Raychaudhuri, Soumya (Program in Medical and Population Genetics. Broad Institute of MIT and Harvard (Cambridge, Estats Units)) ; Schreiber, Stefan (Institute of Clinical Molecular Biology. Christian-Albrechts-University. Klinik für Innere Medizin I. Universitätsklinikum Schleswig-Holstein (Kiel, Alemanya)) ; Heilmann-Heimbach, Stefanie (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Aliberti, Stefano (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Ripke, Stephan (Charite Universitätsmedizin (Berlín, Alemanya)) ; Dudman, Susanne (Oslo University Hospital. Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Wesse, Tanja (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Zheng, Tenghao ; Bahmer, Thomas (Klinik für Innere Medizin I. Universitätsklinikum Schleswig-Holstein (Kiel, Alemanya)) ; Eggermann, Thomas (Institute of Human Genetics. RWTH Aachen University (Aachen, Alemanya)) ; Illig, Thomas ; Brenner, Thorsten (University Hospital Essen. University Duisburg-Essen (Essen, Alemanya)) ; Pumarola Suñé, Tomàs (Hospital Universitari Vall d'Hebron) ; Feldt, Torsten (University Hospital Duesseldorf. Medical Faculty Heinrich Heine University (Duesseldorf, Alemanya)) ; Folseraas, Trine (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Gonzalez Cejudo, Trinidad ; Landmesser, Ulf ; Protzer, Ulrike ; Hehr, Ute ; Rimoldi, Valeria (Humanitas University (Milà, Itàlia)) ; Monzani, Valter (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Skogen, Vegard (University Hospital of North Norway (Tromsø, Noruega)) ; Keitel, Verena (University Hospital Duesseldorf. Medical Faculty Heinrich Heine University (Duesseldorf, Alemanya)) ; Kopfnagel, Verena ; Friaza, Vicente (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Andrade, Victor (Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Moreno Aguado, Víctor (Institut d'Investigació Biomèdica de Bellvitge) ; Morros, Rosa ; Albrecht, Wolfgang (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Peter, Wolfgang (Stefan-Morsch-Stiftung (Birkenfeld, Alemanya)) ; Poller, Wolfgang (Charite Universitätsmedizin (Berlín, Alemanya)) ; Farré, Xavier (Institut Germans Trias i Pujol) ; Yi, Xiaoli (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Wang, Xiaomin (Charite Universitätsmedizin (Berlín, Alemanya)) ; Khodamoradi, Yascha (University Hospital Frankfurt & Goethe University Frankfurt (Frankfurt am Main, Alemanya)) ; Karadeniz, Zehra (Charite Universitätsmedizin (Berlín, Alemanya)) ; Latiano, Anna ; Goerg, Siegfried (Institute of Transfusionsmedicine. University Hospital Schleswig-Holstein (Kiel, Alemanya)) ; Bacher, Petra (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya)) ; Koehler, Philipp (Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases. Faculty of Medicine and University Hospital Cologne. University of Cologne (Colònia, Alemanya)) ; Tran, Florian (Institute of Clinical Molecular Biology. Christian-Albrechts-University. Klinik für Innere Medizin I. Universitätsklinikum Schleswig-Holstein (Kiel, Alemanya)) ; Zoller, Heinz (Medical University of Innsbruck (Innsbruck, Àustria)) ; Schulte, Eva C ; Heidecker, Bettina (Charite Universitätsmedizin (Berlín, Alemanya)) ; Ludwig, Kerstin U. (Institute of Human Genetics. University Hospital Bonn (Bonn, Alemanya)) ; Fernández, Javier (Hospital Clínic i Provincial de Barcelona) ; Romero-Gómez, Manuel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Albillos, Agustín (Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas. Instituto de Salud Carlos III (Madrid)) ; Invernizzi, Pietro (European Reference Network on Hepatological Diseases. San Gerardo Hospital (Monza, Itàlia)) ; Buti, Maria (Hospital Universitari Vall d'Hebron) ; Duga, Stefano (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; Bujanda, Luis (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (Madrid)) ; Hov, Johannes R. (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Lenz, Tobias L. (Research Group for Evolutionary Immunogenomics. Max Planck Institute for Evolutionary Biology (Plön, Alemanya)) ; Asselta, Rosanna (IRCCS Humanitas Research Hospital. Humanitas University (Milà, Itàlia)) ; de Cid, Rafael (Institut Germans Trias i Pujol) ; Valenti, Luca (University of Milan. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milà, Itàlia)) ; Karlsen, Tom H. (Institute of Clinical Medicine. University of Oslo (Olso, Noruega)) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Franke, Andre (Institute of Clinical Molecular Biology. Christian-Albrechts-University (Kiel, Alemanya))
Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. [...]
2022 - DOI (Digital Object Identifier)

10.1093/hmg/ddac158
Human Molecular Genetics, Vol. 31 (july 2022) , p. 3945-3966

Registre complet -

18 p, 1.5 MB

Novel genes and sex differences in COVID-19 severity / Cruz, Raquel ; Diz-de Almeida, Silvia ; López de Heredia, Miguel (Institut d'Investigació Biomèdica Sant Pau) ; Quintela, Inés ; Ceballos, Francisco C ; Pita, Guillermo ; Lorenzo-Salazar, José M ; González-Montelongo, Rafaela ; Gago-Dominguez, Manuela ; Sevilla Porras, Marta ; Tenorio Castaño, Jair Antonio ; Nevado, Julian ; Aguado, José María ; Aguilar Franco, Carlos (Hospital Santa Bárbara (Soria)) ; Aguilera-Albesa, Sergio ; Almadana, Virginia ; Almoguera, Berta ; Alvarez, Nuria ; Andreu-Bernabeu, Álvaro ; Arana-Arri, Eunate ; Arango, Celso ; Arranz, María Jesús (Fundació Docència i Investigació Mútua Terrassa) ; Artiga, Maria-Jesus ; Baptista-Rosas, Raúl C ; Barreda-Sánchez, María ; Belhassen-Garcia, Moncef ; Bezerra, Joao F ; Bezerra, Marcos A C ; Boix-Palop, Lucía ; Brion, María ; Brugada, Ramon ; Bustos, Matilde ; Calderón, Enrique J ; Carbonell, Cristina ; Castaño, Luis ; Castelao, Jose E ; Conde-Vicente, Rosa ; Cordero-Lorenzana, M Lourdes ; Cortes-Sanchez, Jose L ; Corton, Marta ; Darnaude, M Teresa ; De Martino-Rodríguez, Alba ; del Campo-Pérez, Victor ; Diaz de Bustamante, Aranzazu ; Domínguez-Garrido, Elena ; Luchessi, Andre D ; Eiros, Rocío ; Estigarribia Sanabria, Gladys Mercedes ; Carmen Fariñas, María ; Fernández-Robelo, Uxía ; Fernández-Rodríguez, Amanda ; Fernández-Villa, Tania ; Gil-Fournier, Belén ; Gómez-Arrue, Javier ; González Álvarez, Beatriz ; Gonzalez Bernaldo de Quirós, Fernan ; González-Peñas, Javier ; Gutiérrez-Bautista, Juan F ; Herrero, María José ; Herrero-Gonzalez, Antonio ; Jimenez-Sousa, María A ; Lattig, María Claudia ; Liger Borja, Anabel ; Lopez-Rodriguez, Rosario ; Mancebo, Esther ; Martín-López, Caridad ; Martín, Vicente ; Martinez-Nieto, Oscar ; Martinez-Lopez, Iciar ; Martinez-Resendez, Michel F ; Martinez-Perez, Angel (Institut d'Investigació Biomèdica Sant Pau) ; Mazzeu, Juliana F ; Merayo Macías, Eleuterio ; Minguez, Pablo ; Moreno Cuerda, Victor ; Silbiger, Vivian N ; Oliveira, Silviene F ; Ortega-Paino, Eva ; Parellada, Mara ; Paz-Artal, Estela ; Santos, Ney P C ; Pérez-Matute, Patricia ; Perez, Patricia ; Pérez-Tomás, M Elena ; Perucho, Teresa ; Pinsach-Abuin, Mel Lina ; Pompa-Mera, Ericka N ; Porras-Hurtado, Gloria L ; Pujol, Aurora 1968- ; Ramiro León, Soraya ; Resino, Salvador ; Fernandes, Marianne R ; Rodríguez-Ruiz, Emilio ; Rodriguez-Artalejo, Fernando ; Rodriguez-Garcia, José A ; Ruiz Cabello, Francisco ; Ruiz-Hornillos, Javier ; Ryan, Pablo ; Soria Fernández, José Manuel (Institut d'Investigació Biomèdica Sant Pau) ; Souto, Juan Carlos (Institut d'Investigació Biomèdica Sant Pau) ; Tamayo, Eduardo ; Tamayo-Velasco, Alvaro ; Taracido-Fernandez, Juan Carlos ; Teper, Alejandro ; Torres-Tobar, Lilian ; Urioste, Miguel ; Valencia-Ramos, Juan ; Yáñez, Zuleima ; Zarate, Ruth ; Nakanishi, Tomoko ; Pigazzini, Sara ; Degenhardt, Frauke ; Butler-Laporte, Guillaume ; Maya-Miles, Douglas ; Bujanda, Luis ; Bouysran, Youssef ; Palom, Adriana ; Ellinghaus, David ; Martínez-Bueno, Manuel ; Rolker, Selina ; Amitrano, Sara ; Roade, Luisa ; Fava, Francesca ; Spinner, Christoph D ; Prati, Daniele ; Bernardo, D ; Garcia, Federico ; Darcis, Gilles ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Holter, Jan Cato ; Banales, Jesus ; Frithiof, Robert ; Duga, Stefano ; Asselta, Rosanna ; Pereira, Alexandre C ; Romero-Gómez, Manuel ; Nafría-Jiménez, Beatriz ; Hov, Johannes R. ; Migeotte, Isabelle ; Renieri, Alessandra ; Planas, Anna M ; Ludwig, Kerstin U ; Buti, Maria ; Rahmouni, Souad ; Alarcón-Riquelme, Marta E ; Schulte, Eva C ; Franke, Andre ; Karlsen, Tom H. ; Valenti, Luca ; Zeberg, Hugo ; Richards, Brent ; Ganna, Andrea ; Boada, Mercè ; De Rojas, Itziar ; Ruiz, Agustín ; Sánchez-Juan, Pascual ; Real, Luis M ; Guillen-Navarro, Encarna ; Ayuso, Carmen ; González-Neira, Anna ; Riancho, José A ; Rojas-Martinez, Augusto ; Flores, Carlos ; Lapunzina, Pablo ; Carracedo, Ángel
Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). [...]
2022 - DOI (Digital Object Identifier)

10.1093/hmg/ddac132
Human Molecular Genetics, Vol. 31 (june 2022) , p. 3789-3806

Registre complet -

16 p, 1.9 MB

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function / Durán, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Burballa, Carla (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cantero-Recasens, Gerard (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Butnaru, Cristian M. (Centre de Regulació Genòmica) ; Malhotra, Vivek (Centre de Regulació Genòmica) ; Ariceta Iraola, Gema (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Sarró, Eduard (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Meseguer Navarro, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. [...]
2021 - DOI (Digital Object Identifier)

10.1093/hmg/ddab131
Human Molecular Genetics, Vol. 30 (may 2021) , p. 1413-1428

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10 p, 1.2 MB

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion / Taylor, Henry (Imperial College London) ; Yerlioglu, Dilay (Istanbul University) ; Phen, Claudia (University of Texas Southwestern Medical Center) ; Ballauff, Antje (Zentrum für Kinder- und Jugendmedizin Gastroenterology) ; Nedelkopoulou, Natalia (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Spier, Isabel (University of Bon) ; Loverdos, Inés (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Busoni, Veronica B. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Heise, Jürgen (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Dale, Peter (Hospital Italiano de Buenos Aires (Argentina)) ; de Meij, Tim (Amsterdam UMC. University Medical Center) ; Sweet, Kevin (Ohio State University Wexner Medical Center) ; Cohen, Marta C. (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Fox, Victor L. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Mas, Emmanuel (Université de Toulouse) ; Aretz, Stefan (University of Bonn) ; Eng, Charis (Genomic Medicine Institute) ; Buderus, Stephan (Case Western Reserve University School of Medicine) ; Thomson, Mike (Sheffield Children's Hospital NHS Foundation Trus) ; Rojas, Isabel (University of Texas Southwestern Medical Center) ; Uhlig, Holm H. (University of Oxford) ; Universitat Autònoma de Barcelona
Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). [...]
2021 - DOI (Digital Object Identifier)

10.1093/hmg/ddab094
Human Molecular Genetics, Vol. 30 (april 2021) , p. 1273-1282

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9 p, 745.9 KB

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease / Bichet, Daniel G. (Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Wallace, Eric (Department of Medicine, University of Alabama, Birmingham, AL, USA) ; Hughes, Derralynn A (Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK) ; Giugliani, Roberto (Instituto Nacional de Genética Médica Populacional (Porto Alegre, Brasil)) ; Skuban, Nina (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Krusinska, Eva (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ; Feldt-Rasmussen, Ulla (Copenhagen University Hospital Rigshospitalet) ; Schiffmann, Raphael (Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA) ; Nicholls, Kathy (Royal Melbourne Hospital (Melbourne, Austràlia)) ; Universitat Autònoma de Barcelona
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)-naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extension studies was conducted to evaluate long-term changes in renal function in patients with Fabry disease and amenable GLA variants who were treated with migalastat for ≥2 years during these studies. [...]
2021 - DOI (Digital Object Identifier)

10.1016/j.ymgmr.2021.100786
Molecular Genetics and Metabolism Reports, Vol. 28 (august 2021)

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