Dipòsit Digital de Documents de la UAB 13 registres trobats  1 - 10següent  anar al registre: La cerca s'ha fet en 0.00 segons. 
1.
13 p, 2.5 MB Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility / Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ; Tüttelmann, Frank (Institute of Reproductive Genetics. University of Münster) ; Lopes, Alexandra M. (Center for Predictive and Preventive Genetics. Institute for Cell and Molecular Biology. University of Porto) ; Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ; Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe (València)) ; Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe (València)) ; Lujan, Saturnino (Instituto de Investigación Sanitaria La Fe (València)) ; Romeu, Gema (Instituto de Investigación Sanitaria La Fe (València)) ; Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ; Castilla, José Antonio (CEIFER Biobanco - GAMETIA) ; Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ; Vicente, F.Javier (UGC de Urología. HU Virgen de las Nieves) ; González-Muñoz, Sara (Instituto de Investigación Sanitaria de Granada) ; Guzmán-Jiménez, Andrea (Instituto de Investigación Sanitaria de Granada) ; Burgos, Miguel (Universidad de Granada. Departamento de Genética) ; Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ; Pacheco, Alberto (Universidad Alfonso X El Sabio. Facultad de Ciencias de la Salud) ; González, Cristina (Instituto de Investigación Sanitaria La Fe) ; Gómez, Susana (Instituto de Investigación Sanitaria La Fe) ; Amorós, David (Instituto de Investigación Sanitaria La Fe) ; Aguilar, Jesus (Instituto de Investigación Sanitaria La Fe) ; Quintana, Fernando (Instituto de Investigación Sanitaria La Fe) ; Calhaz-Jorge, Carlos (Centro Hospitalar Universitário de Lisboa Norte) ; Aguiar, Ana (Centro Hospitalar Universitário de Lisboa Norte) ; Nunes, Joaquim (Centro Hospitalar Universitário de Lisboa Norte) ; Sousa, Sandra (Centro Hospitalar Universitário de Lisboa Norte) ; Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ; Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ; Correia, Sónia (Centro Hospitalar Universitário de Lisboa Central) ; Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ; López-Rodrigo, Olga (Fundació Puigvert) ; Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ; Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ; Marques, Patricia I. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ; Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ; Gromoll, Jörg (Institute of Reproductive and Regenerative Biology. Centre of Reproductive Medicine and Andrology. University of Münster. University Clinics) ; Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Gonçalves, João (ToxOmics - Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ; Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ; Kliesch, Sabine (University Hospital Münster. Department of Clinical and Surgical Andrology. Centre of Reproductive Medicine and Andrology) ; Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ; Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ; Universitat Autònoma de Barcelona
We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. [...]
2022 - 10.1038/s42003-022-04192-0
Communications Biology, Vol. 5 Núm. 1 (december 2022) , p. 1220  
2.
10 p, 1.8 MB Diversity of genotypes in a European population : Conserved and recombinant haplotypes in the coding, promoter, and 3'-untranslated regions / Asenjo, Judit (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ; Moraru, Manuela (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ; Al-Akioui-Sanz, Karima (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ; Altadill, Mireia (Universitat Pompeu Fabra) ; Muntasell i Castellví, Aura 1972- (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Lopez-Botet, Miguel (Institut Hospital del Mar d'Investigacions Mèdiques) ; Vilches, Carlos (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana)
NK cells monitor altered molecular patterns in tumors and infected cells through an ample array of receptors. Two families of evolutionarily distant receptors have converged to enable human NK cells to sense levels of HLA class I ligands, frequently abnormal in altered cells. [...]
2022 - 10.1111/tan.14734
Hla, Vol. 100, Issue 5 (November 2022) , p. 469-478  
3.
9 p, 1.1 MB MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension / Canut, Maria Isabel (Centre d'Oftalmologia Barraquer (Barcelona, Catalunya)) ; Villa, O. (Quantitative Genomic Medicine Laboratories (qGenomics)) ; Kudsieh, B. (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Mattlin, H. (Quantitative Genomic Medicine Laboratories (qGenomics)) ; Banchs, I. (Quantitative Genomic Medicine Laboratories (qGenomics)) ; González, J.R. (Universitat Pompeu Fabra) ; Armengol, Lluís (Quantitative Genomic Medicine Laboratories (qGenomics)) ; Casaroli-Marano, Ricardo Pedro (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). [...]
2021 - 10.1038/s41598-020-80954-2
Scientific reports, Vol. 11 Núm. 1 (december 2021) , p. 1583  
4.
11 p, 1.6 MB Association of Apolipoprotein e ϵ4 Allele with Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults with down Syndrome / Bejanin, Alexandre (Institut d'Investigació Biomèdica Sant Pau) ; Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ; Vilaplana, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Carmona Iragui, María (Institut d'Investigació Biomèdica Sant Pau) ; Benejam, Bessy (Barcelona Down Medical Center. Fundació Catalana Síndrome de Down) ; Videla Toro, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Fernandez, S. (Universitat Autònoma de Barcelona) ; Altuna-Azkargorta, Miren (Institut d'Investigació Biomèdica Sant Pau) ; Pegueroles, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Montal, Victor (Institut d'Investigació Biomèdica Sant Pau) ; Valldeneu, Silvia (Institut d'Investigació Biomèdica Sant Pau) ; Giménez, Sandra (Institut d'Investigació Biomèdica Sant Pau) ; González-Ortiz, Sofía (Hospital del Mar (Barcelona, Catalunya)) ; Muñoz, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Padilla, Concepción (Institut d'Investigació Biomèdica Sant Pau) ; Aranha, Mateus (Institut d'Investigació Biomèdica Sant Pau) ; Estellés, T. (Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED)) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Camacho, Valle (Institut d'Investigació Biomèdica Sant Pau) ; Wilson, L.R. (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ; Annus, Tiina (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ; Osorio, R.S. (Healthy Brain Aging and Sleep Center. Department of Psychiatry. New York University. Grossman School of Medicine) ; Videla, S. (Institut d'Investigació Biomèdica de Bellvitge) ; Lehmann, S. (Le Laboratoire de Biochimie et Protéomique Clinique. Université Montpellier. Centre Hospitalier Universitaire Montpellier. Institut National de la Santé et de la Recherche Médicale) ; Holland, Anthony (Cambridge Intellectual and Developmental Disabilities Research Group. Department of Psychiatry. University of Cambridge. Douglas House) ; Zetterberg, Henrik (Department of Neurodegenerative Disease. UCL Queen Square Institute of Neurology) ; Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Zaman, S.H. (Cambridgeshire and Peterborough National Health Service (NHS) Foundation Trust. Fulbourn Hospital. Elizabeth House) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Importance: Alzheimer disease (AD) is the leading cause of death in individuals with Down syndrome (DS). Previous studies have suggested that the APOE ϵ4 allele plays a role in the risk and age at onset of dementia in DS; however, data on in vivo biomarkers remain scarce. [...]
2021 - 10.1001/jamaneurol.2021.1893
JAMA Neurology, Vol. 78 Núm. 8 (august 2021) , p. 937-947  
5.
18 p, 1.3 MB Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 / Zhang, Qian (St. Rockefeller University) ; Liu, Zhiyong (Rockefeller University) ; Moncada-Velez, Marcela (Rockefeller University) ; Chen, Jie (Rockefeller University) ; Ogishi, Masato (Rockefeller University) ; Bigio, Benedetta (Rockefeller University) ; Yang, Rui (Rockefeller University) ; Arias, Andrés Augusto (Universidad de Antioquia) ; Zhou, Qinhua (Rockefeller University) ; Han, Ji Eun (Rockefeller University) ; Ugurbil, Aileen Camille (Rockefeller University) ; Zhang, Peng (Rockefeller University) ; Rapaport, Franck (Rockefeller University) ; Li, Juan (Rockefeller University) ; Spaan, András N. (University Medical Center Utrecht) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Ciancanelli, Michael J (Turnstone Biologics) ; Zhang, Shen-Ying (University of Paris) ; Béziat, V. (University of Paris) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, A. (University of Paris) ; Casanova, Jean-Laurent (Rockefeller University) ; Bastard, Paul (University of Paris) ; Korol, Cecilia (Necker Hospital for Sick Children, Paris) ; Rosain, Jérémie (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, Marwa (University of Paris. Imagine Institute) ; Lorenzo, L. (University of Paris. Imagine Institute) ; Bizien, L. (University of Paris. Imagine Institute) ; Neehus, A. L. (University of Paris. Imagine Institute) ; Kerner, G. (University of Paris. Imagine Institute) ; Seeleuthner, Y. (University of Paris. Imagine Institute) ; Manry, J. (University of Paris. Imagine Institute) ; Le Voyer, T. (University of Paris. Imagine Institute) ; Boisson, Bertrand (University of Paris. Imagine Institute) ; Boisson-Dupuis, S. (University of Paris. Imagine Institute) ; Bustamante, J. (Necker Hospital for Sick Children. AP-HP) ; Puel, A. (University of Paris. Imagine Institute) ; Zhang, S. Y. (University of Paris. Imagine Institute) ; Béziat, V. (University of Paris. Imagine Institute) ; Jouanguy, E. (University of Paris) ; Abel, Laurent (University of Paris) ; Cobat, A. (University of Paris) ; Bastard, Paul (University of Paris) ; Rosain, J. (University of Paris) ; Philippot, Q. (APHP Tenon Hospital) ; Chbihi, M. (University of Paris) ; Lorenzo, L. (University of Paris) ; Bizien, L. (University of Paris) ; Neehus, A. L. (University of Paris) ; Kerner, G. (University of Paris) ; Seeleuthner, Y. (University of Paris) ; Manry, J. (University of Paris) ; Le Voyer, T. (University of Paris) ; Boisson, Bertrand (University of Paris) ; Boisson-Dupuis, S. (University of Paris) ; Bustamante, J. (Necker Hospital for Sick Children) ; Puel, A. (University of Paris) ; Zhang, S. Y. (University of Paris) ; Béziat, Vivien (University of Paris) ; Jouanguy, Emmanuelle (University of Paris) ; Abel, Laurent (INSERM U1163. University of Paris) ; Cobat, Aurélie (University of Paris) ; Le Pen, Jérémie (Rockefeller University) ; Schneider, W. M. (Rockefeller University) ; Razooky, B. S. (Rockefeller University) ; Hoffmann, H. H. (Rockefeller University) ; Michailidis, E. (Rockefeller University) ; Rice, Charles M. (Rockefeller University) ; Sabli, Ira K. D. (Imperial College London) ; Hodeib, Stephanie (Imperial College London) ; Sancho Shimizu, Vanessa (Imperial College London) ; Bilguvar, Kaya (Yale School of Medicine) ; Ye, Junqiang (Columbia University) ; Bolze, Alexandre (Helix) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Zhang, Y. (NIAID Clinical Genomics Program) ; Notarangelo, L. D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, H. C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Onodi, Fanny (Université de Paris) ; Korniotis, Sarantis (Université de Paris) ; Karpf, Léa (Université de Paris. Institut de Recherche Saint-Louis. INSERM U976. Hôpital Saint-Louis) ; Soumelis, V. (AP-HP. Hôpital Saint-Louis. Laboratoire d'Immunologie) ; Bonnet-Madin, Lucie (Université de Paris. Institut de Recherche Saint-Louis) ; Amara, A. (Université de Paris. Institut de Recherche Saint-Louis) ; Dorgham, Karim (Sorbonne Université. Inserm. Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI PARIS). Assistance Publique-Hôpitaux de Paris (AP-HP). Hôpital Pitié-Salpêtrière) ; Gorochov, Guy (Sorbonne Université) ; Smith, N. (Institut Pasteur) ; Duffy, Darragh (Institut Pasteur) ; Moens, L. (University Hospitals Leuven (Bèlgica)) ; Meyts, I. (KU Leuven. Department of Immunology. Microbiology and Transplantation) ; Meade, P. (Department of Microbiology) ; Garcia-Sastre, Adolfo (Tisch Cancer Institute) ; Krammer, Florian (Department of Microbiology) ; Corneau, A. (Sorbonne Université) ; Masson, C. (Imagine Institute) ; Schmitt, Y. (Imagine Institute) ; Schluter, A. (Neurometabolic Diseases Laboratory) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Khan, T. (Sidra Medicine) ; Marr, Nico (Hamad Bin Khalifa University) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Roussel, L. (McGill University Health Centre) ; Vinh, D. C. (McGill University Health Centre) ; Shahrooei, M. (Saeed Pathobiology and Genetic Lab) ; Alosaimi, M. F. (College of Medicine. King Saud University) ; Alsohime, F. ; Hasanato, R. (Department of Pathology and Laboratory Medicine. College of Medicine. King Saud University) ; Mansouri, D. (Shahid Beheshti University of Medical Sciences) ; Al-Saud, H. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Almourfi, F. (National Center of Genomics Technology. King Abdulaziz City for Science and Technology) ; Al-Mulla, F. (Kuwait University) ; Al-Muhsen, S. Z. (Immunology Research Laboratory. Department of Pediatrics. College of Medicine. King Saud University Medical City. King Saud University) ; Al Turki, S. (Cancer & Blood Research. King Abdullah International Medical Research Center) ; van de Beek, D. (Amsterdam UMC. University Medical Center) ; Biondi, A. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bettini, L. R. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; D'Angio, M. (Pediatric Departement. Centro Tettamanti-European Reference Network PaedCan. EuroBloodNet. MetabERN-University of Milano-Bicocca-Fondazione MBBM-Ospedale) ; Bonfanti, Paolo (Department of Infectious Diseases. San Gerardo Hospital. University of Milano-Bicocca) ; Imberti, L. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Sottini, A. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Paghera, S. (CREA Laboratory. Diagnostic Laboratory. ASST Spedali Civili di Brescia) ; Quiros-Roldan, E. (Department of Infectious and Tropical Diseases. University of Brescia. ASST Spedali di Brescia) ; Rossi, C. (Medical Officer. ASST Spedali Civili di Brescia) ; Oler, A. J. (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Tompkins, M. F. (PRIMER. Uniformed Services University of the Health Sciences) ; Alba, Camille (PRIMER. Uniformed Services University of the Health Sciences) ; Dalgard, C. L. (American Genome Center. Uniformed Services University of the Health Sciences) ; Vandernoot, Isabelle (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Smits, Guillaume (Center of Human Genetics. Hôpital Erasme. Université Libre de Bruxelles) ; Goffard, Jean-Christope (Department of Internal Medicine. Hôpital Erasme. Université Libre de Bruxelles) ; Migeotte, Isabelle (Hôpital Erasme) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Morange, Pierre-Emmanuel (Aix Marseille Univ) ; Keles, Sevgi (Meram Medical Faculty. Necmettin Erbakan University. Meram Medical Faculty) ; Çölkesen, Fatma (Department of Infectious Diseases and Clinical Microbiology. Konya Training and Research Hospital) ; Ozcelik, Tayfun (Bilkent University) ; Yasar, Tayfun Kart (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Senoglu, Sevtap (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Karabela, Şemsi Nur (Departments of Infectious Diseases and Clinical Microbiology. Bakirkoy Dr. Sadi Konuk Training and Research Hospital. University of Health Sciences) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Novelli, Giuseppe (University of Rome "Tor Vergata) ; Hraiech, Sami (Intensive Care Unit) ; Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ; Duval, Xavier (Hôpital Bichat Claude Bernard) ; Laouénan, Cédric (Hôpital Bichat) ; Duval, X. (Hôpital Bichat Claude Bernard) ; Snow, Andrew (Uniformed Services University of the Health Sciences, Bethesda) ; Dalgard, Clifton L. (American Genome Center) ; Milner, Joshua D. (Columbia University) ; Mogensen, Trine Hyrup (Aarhus University) ; Spaan, András N. (Univer-sity Medical Center Utrecht) ; Bustamante, Jacinta (Necker Hospital for Sick Children) ; Ciancanelli, Michael J. (Turnstone Biologics) ; Maniatis, Tom (New York Genome Center) ; Soumelis, Vassili (Hôpital Saint-Louis, Paris) ; Nussenzweig, Michel (Howard Hughes Medical Institute) ; Garcia-Sastre, Adolfo (Icahn School of Medicine) ; Lifton, Richard P. (Yale School of Medicine) ; Foti, Giuseppe (University of Milano-Bicocca) ; Bellani, G. (University of Milano-Bicocca) ; Citerio, Giuseppe (University of Milano-Bicocca) ; Contro, E. (University of Milano-Bicocca) ; Pesci, Alberto (University of Milano-Bicocca.) ; Valsecchi, M. G. (University of Milano-Bicocca) ; Cazzaniga, M. (University of Milano-Bicocca) ; Abad Capa, Jorge (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodrigo, C. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Aguilera-Albesa, Sergio (Complejo Hospitalario de Navarra) ; Akcan, O. M. (Necmettin Erbakan University) ; Darazam, I. A. (Shahid Beheshti University of Medical Sciences) ; Aldave, J. C. (Hospital Nacional Edgardo Rebagliati Martins) ; Ramos, M. A. (Parc Sanitari Sant Joan de Déu) ; Nadji, S. A. (Shahid Beheshti University of Medical Sciences) ; Alkan, G. (Selcuk University) ; Allardet-Servent, J. (Hôpital Européen) ; Allende-Martinez, Luis M (Hospital Universitario 12 de Octubre (Madrid)) ; Alsina, L. (Hospital Sant Joan de Déu (Manresa)) ; Alyanakian, M. A. (Necker Hospital for Sick Children) ; Amador-Borrero, B. (Université de Paris) ; Mouly, S. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Sene, D. (Internal Medicine Department. Hôpital Lariboisière. APHP. Université de Paris) ; Amoura, Zahir (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Mathian, Alexis (Internal Medicine Department. Pitié-Salpétrière Hospital) ; Antolí, Arnau (Hospital Universitari de Bellvitge) ; Blanch, G. R. (Hospital Universitari de Bellvitge) ; Riera, J. S. (Hospital Universitari de Bellvitge) ; Moreno, X. S. (Hospital Universitari de Bellvitge) ; Arslan, S. (Necmettin Erbakan University) ; Assant, S. (Lyon Sud Hospital) ; Auguet, Teresa (Hospital Universitari Joan XXIII de Tarragona) ; Azot, A. (Private Practice) ; Bajolle, F. (Necker Hospital for Sick Children) ; Bustamante, J. (Necker Hospital for Sick Children) ; Lévy, R. (Necker Hospital for Sick Children) ; Oualha, M. (Necker Hospital for Sick Children) ; Baldolli, A. (Department of Infectious Diseases) ; Ballester Devis, Maria (Consorcio Hospital General Universitario) ; Feldman, H. B. (Tel Aviv University) ; Barrou, B. (Sorbonne Université.) ; Beurton, Alexandra (Hôpital Pitié-Salpêtrière) ; Bilbao, A. (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Blanchard-Rohner, G. (Geneva University Hospitals (Suïssa)) ; Blandinières, A. (Georges Pompidou Hospital) ; Rivet, N. (Georges Pompidou Hospital) ; Blázquez-Gamero, Daniel (Hospital Universitario 12 de Octubre (Madrid)) ; Bloomfield, M. (Motol University Hospital) ; Bolivar-Prados, Mireia (Hospital de Mataró. Consorci Sanitari del Maresme) ; Clavé i Civit, Pere (rie, R.) ; Bosteels, C. (Universitair Ziekenhuis Gent) ; Lambrecht, B. N. (Universitair Ziekenhuis Gent) ; van Braeckel, E. (Universitair Ziekenhuis Gent) ; Bousfiha, Ahmed A (Averroes University Hospital D'Inflammation et d'Allergie. Hassann II University) ; Bouvattier, C. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Vincent, A. (Endocrinology Unit. APHP Hôpitaux Universitaires Paris-Sud) ; Boyarchuk, O. (I. Horbachevsky Ternopil National Medical University) ; Bueno, M. R. P. (University of São Paulo) ; Castro, M. V. (University of São Paulo) ; Matos, L. R. B. (University of São Paulo) ; Zatz, M. (Human Genome and Stem-Cell Research Center. University of São Paulo) ; Agra, J. J. C. (Hospital Universitario Insular de Gran Canaria) ; Calimli, S. (Konya State Hospital) ; Capra, R. (Spedali Civili) ; Carrabba, M. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Fabio, G. (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico) ; Casasnovas, Carlos (Hospital Universitari de Bellvitge) ; Vélez-Santamaria, V. (Hospital Universitari de Bellvitge) ; Caseris, M. (Hopital Robert Debré) ; Falck, A. (Hopital Robert Debré) ; Poncelet, G. (Hopital Robert Debré) ; Castelle, M. (Necker Enfants Malades Hospital) ; Castelli, F. (University of Brescia) ; de Vera, M. C. (Canarian Health System) ; Catherinot, E. (Hôpital Foch) ; Chalumeau, M. (Necker Hospital for Sick Children) ; Toubiana, J. (Necker Hospital for Sick Children) ; Charbit, B. (Pasteur Institute) ; Li, Z. (Pasteur Institute) ; Pellegrini, S. (Pasteur Institute) ; Cheng, M. P. (McGill University Health Centre) ; Clotet Sala, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Codina, A. (Institut de Recerca Sant Joan de Déu) ; Çölkesen, F. (Necmettin Erbakan University) ; Çölkesen, F. (Konya Training and Research Hospital) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Comarmond, C. (Pitié-Salpêtrière Hospital) ; Dalmau, David (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Darley, D. R. (Vincent's Hospital Darlinghurst) ; Dauby, N. (Université Libre de Bruxelles) ; Dauger, S. (Robert-Debré University Hospital) ; Le Bourgeois, F. (Robert-Debré University Hospital) ; Levy, M. (Robert-Debré University Hospital) ; de Pontual, L. (Hôpital Jean Verdier) ; Dehban, A. (Sina Medical Complex) ; Delplancq, G. (Centre de Génétique Humaine) ; Demoule, A. (Sorbonne Université Médecine) ; Diehl, J. L. (Georges Pompidou Hospital) ; Dobbelaere, S. (AZ Delta) ; Durand, Sophie (Institut Jérôme Lejeune) ; Mircher, C. (Institut Jérôme Lejeune) ; Rebillat, A. S. (Institut Jérôme Lejeune) ; Vilaire, M. E. (Institut Jérôme Lejeune) ; Eldars, W. (DMansoura University) ; Elgamal, M. (Mansoura University) ; Elnagdy, M. H. (Mansoura University) ; Emiroglu, M. (Selcuk University) ; Erdeniz, E. H. (Ondokuz Mayıs University) ; Aytekin, S. E. (Necmettin Erbakan University) ; Euvrard, R. (Centre Hospitalier Fleyriat) ; Evcen, R. (Necmettin Erbakan University) ; Faivre, L. (CHU Dijon) ; Fartoukh, M. (APHP Tenon Hospital) ; Philippot, Q. (APHP Tenon Hospital) ; Faure, M. (Sorbonne Universités) ; Arquero, M. F. (Hospital Clínico San Carlos (Madrid)) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Francois, B. (CHU Limoges) ; Fumadó, Victoria (Universitat de Barcelona) ; Fusco, Francesca (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Ursini, M. V. (Institute of Genetics and Biophysics "Adriano Buzzati-Traverso) ; Solis, B. G. (Hospital Universitario La Paz (Madrid)) ; de Diego, R. P. (Hospital Universitario La Paz (Madrid)) ; van Den Rym, A. M. (Hospital Universitario La Paz (Madrid)) ; Gaussem, P. (Department of Hematology. APHP. Hopital Européen Georges Pompidou. Inserm UMR-S1140) ; Gil-Herrera, J. (Hos-pital General Universitario. Instituto de Investigación Sanitaria "Gregorio Marañón) ; Gilardin, L. (Bégin Military Hospital) ; Girona-Alarcón, Mònica (Hospital Sant Joan de Déu (Manresa)) ; Goffard, J. C. (Université Libre de Bruxelles) ; Gok, F. (Necmettin Erbakan University) ; Yosunkaya, A. (Necmettin Erbakan University) ; Thy, M. (Center for Clinical Investigation. Assistance Publique-Hôpitaux de Paris. Bichat-Claude Bernard University Hospital) ; van Agtmael, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Bomers, Marije (Department of Infectious Diseases. Amsterdam UMC) ; Chouchane, Osoul (Department of Infectious Diseases. Amsterdam UMC) ; Geerlings, Suzanne (Department of Infectious Diseases. Amsterdam UMC) ; Goorhuis, Bram (Department of Infectious Diseases. Amsterdam UMC) ; Grobusch, Martin P. (Department of Infectious Diseases. Amsterdam UMC) ; Harris, Vanessa (Department of Infectious Diseases. Amsterdam UMC) ; Hermans, Sabine M. (Department of Infectious Diseases. Amsterdam UMC) ; Hovius, Joppe W. (Department of Infectious Diseases. Amsterdam UMC) ; Nellen, Jeaninne (Department of Infectious Diseases. Amsterdam UMC) ; Peters, Edgar (Department of Infectious Diseases. Amsterdam UMC) ; van der Poll, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Prins, Jan M. (Department of Infectious Diseases. Amsterdam UMC) ; Reijnders, Tom (Department of Infectious Diseases. Amsterdam UMC) ; Schinkel, Michiel (Department of Infectious Diseases. Amsterdam UMC) ; Sigaloff, Kim (Department of Infectious Diseases. Amsterdam UMC) ; Stijnis, Cornelis S. (Department of Infectious Diseases. Amsterdam UMC) ; van der Valk, Marc (Department of Infectious Diseases. Amsterdam UMC) ; van Vugt, Michèle (Department of Infectious Diseases. Amsterdam UMC) ; Joost Wiersinga, W. (Department of Infectious Diseases. Amsterdam UMC) ; Algera, Anna Geke (Department of Intensive Care. Amsterdam UMC) ; van Baarle, Frank (Department of Intensive Care. Amsterdam UMC) ; Bos, Lieuwe D.. (Department of Intensive Care. Amsterdam UMC) ; Botta, Michela (Department of Intensive Care. Amsterdam UMC) ; de Bruin, Sanne (Department of Intensive Care. Amsterdam UMC) ; Bulle, Esther (Department of Intensive Care. Amsterdam UMC) ; Elbers, Paul (Department of Intensive Care. Amsterdam UMC) ; Fleuren, Lucas (Department of Intensive Care. Amsterdam UMC) ; Girbes, Armand (Department of Intensive Care. Amsterdam UMC) ; Hagens, Laura (Department of Intensive Care. Amsterdam UMC) ; Heunks, Leo (Department of Intensive Care. Amsterdam UMC) ; Horn, Janneke (Department of Intensive Care. Amsterdam UMC) ; van Mourik, Niels (Department of Intensive Care. Amsterdam UMC) ; Paulus, Frederique (Department of Intensive Care. Amsterdam UMC) ; Raasveld, Jorinde (Department of Intensive Care. Amsterdam UMC) ; Schultz, Marcus J. (Department of Intensive Care. Amsterdam UMC) ; Smit, Marry (Department of Intensive Care. Amsterdam UMC) ; Stilma, Willemke (Department of Intensive Care. Amsterdam UMC) ; Thoral, Patrick (Department of Intensive Care. Amsterdam UMC) ; Tsonas, Anissa M (Department of Intensive Care. Amsterdam UMC) ; de Vries, Heder (Department of Intensive Care. Amsterdam UMC) ; Bax, Diane (Experimental Immunology. Amsterdam UMC) ; Cloherty, Alex (Experimental Immunology. Amsterdam UMC) ; Beudel, Martijn (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Brouwer, Matthijs C. (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; Koning, Rutger (Department of Neurology. Amsterdam UMC. Amsterdam Neuroscience) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Bogaard, H. J. (Department of Pulmonology. Amsterdam UMC) ; de Brabander, J. (Department of Infectious Diseases. Amsterdam UMC) ; de Bree, G. (Department of Infectious Diseases. Amsterdam UMC) ; Bugiani, Marianna (Department of Pathology. Amsterdam UMC) ; Geerts, Bart (Department of Anesthesiology. Amsterdam UMC) ; Hollmann, Markus W. (Department of Anesthesiology. Amsterdam UMC) ; Preckel, Benedikt (Department of Anesthesiology. Amsterdam UMC) ; Veelo, Denise (Department of Anesthesiology. Amsterdam UMC) ; Geijtenbeek, Theo (Department of Experimental Immunology. Amsterdam UMC) ; Hafkamp, Florianne (Department of Experimental Immunology. Amsterdam UMC) ; Hamann, Jorg (Amsterdam UMC Biobank Core Facility. Amsterdam UMC) ; Hemke, Robert (Department of Radiology. Amsterdam UMC) ; de Jong, Menno D. (Department of Medical Microbiology. Amsterdam UMC) ; Schuurman, Alex (Department of Internal Medicine. Amsterdam UMC) ; Teunissen, Charlotte (Neurochemical Laboratory. Amsterdam UMC) ; Vlaar, Alexander P. J. (Department of Intensive Care. Amsterdam UMC) ; Wouters, Dorien (Department of Clinical Chemistry. Amsterdam UMC) ; Zwinderman, A. H. (Department of Clinical Epidemiology. Biostatistics and Bioinformatics. Amsterdam UMC) ; Abel, Laurent (INSERM U1163. University of Paris. Imagine Institute) ; Aiuti, Alessandro (San Raffaele Telethon Institute for Gene Therapy. IRCCS Ospedale San Raffaele) ; Muhsen, Saleh Al (King Saud University) ; Al-Mulla, Fahd (Kuwait University) ; Anderson, Mark S. (University of California. San Francisco) ; Feldman, Hagit Baris (Genetics Institute. Tel Aviv Sourasky Medical Center. Sackler Faculty of Medicine. Tel Aviv University) ; Bogunovic, Dusan (Icahn School of Medicine) ; Itan, Yuval (Icahn School of Medicine) ; Bolze, Alexandre (Helix) ; Cirulli, Elizabeth (Helix) ; Barrett, Kelly Schiabor . (Helix) ; Washington, Nicole (Helix) ; Bondarenko, Anastasiia (Shupyk National Medical Academy for Postgraduate Education) ; Bousfiha, Ahmed A. (Clinical Immunology Unit. Pediatric Infectious Disease Departement. Faculty of Medicine and Pharmacy. Averroes University Hospital. LICIA Laboratoire d'Immunologie Clinique. D'Inflammation et d'Allergie. Hassann II University) ; Brodin, Petter (Karolinska Institutet (Estocolm, Suècia)) ; Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ; Bustamante, Carlos D. (Stanford University) ; Butte, Manish J (University of California) ; Casari, Giorgio (Medical Genetics. IRCCS Ospedale San Raffaele) ; Chakravorty, Samya (Emory University. Department of Pediatrics. Children's Healthcare of Atlanta) ; Christodoulou, John (Murdoch Children's Research Institute) ; Le Mestre, S. (University of São Paulo) ; Condino-Neto, Antonio (University of São Paulo) ; Cooper, Megan A. (Washington University School of Medicine) ; Dalgard, Clifton L. (American Genome Center. Uniformed Services University of the Health Sciences) ; David, Alessia (Centre for Bioinformatics and System Biology. Department of Life Sciences. Imperial College London. South Kensington Campus) ; DeRisi, Joseph L. (Chan Zuckerberg Biohub) ; Desai, Murkesh (Bai Jerbai Wadia Hospital for Children) ; Drolet, Beth A. (School of Medicine and Public Health. University of Wisconsin) ; Espinosa, Sara (Instituto Nacional de Pediatria. (National Institute of Pediatrics)) ; Fellay, Jacques (Swiss Federal Institute of Technology Lausanne) ; Flores, Carlos (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Franco, Jose Luis (University of Antioquia) ; Gregersen, Peter K. (Feinstein Institute for Medical Research. Northwell Health USA) ; Haerynck, Filomeen (Department of Paediatric Immunology and Pulmonology. Centre for Primary Immunodeficiency Ghent (CPIG). PID Research Lab. Jeffrey Modell Diagnosis and Research Centre. Ghent University Hospital) ; Hagin, David (Genetics Institute. Tel Aviv Sourasky Medical Center) ; Halwani, Rabih (Sharjah Institute of Medical Research. College of Medicine. University of Sharjah) ; Heath, Jim (Institute for Systems Biology) ; Henrickson, Sarah E. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hsieh, Elena (Anschutz Medical Campus) ; Imai, Kohsuke (Riken) ; Karamitros, Timokratis (Hellenic Pasteur Institute) ; Kisand, Kai (University of Tartu) ; Ku, Cheng-Lung. (Chang Gung University) ; Lau, Yu-Lung (University of Hong Kong) ; Ling, Yun (Shanghai Public Health Clinical Center. Fudan University) ; Lucas, Carrie L. (Yale School of Medicine) ; Mansouri, Davoud (Shahid Beheshti University of Medical Sciences) ; Marodi, Laszlo (Semmelweis University Budapest) ; Milner, Joshua (Columbia University Medical Center) ; Mironska, Kristina (University Clinic for Children's Diseases) ; Morio, Tomohiro (Tokyo Medical & Dental University Hospital) ; Notarangelo, Luigi (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Su, Helen C. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Novelli, Antonio (Bambino Gesù Children's Hospital) ; Novelli, Giuseppe (Department of Biomedicine and Prevention. University of Rome "Tor Vergata) ; O'Farrelly, Cliona (Trinity College) ; Okada, Satoshi (Hiroshima University) ; Ozcelik, Tayfun (Bilkent University) ; Perez de Diego, Rebeca (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Planas, Anna M. (IIBB-CSIC. IDIBAPS) ; Prando, Carolina (Faculdades Pequeno Príncipe. Instituto de Pesquisa Pelé Pequeno Príncipe) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Quintana-Murci, Luis (Institut Pasteur. CNRS. UMR 2000. Collège de France) ; Renia, Laurent (Infectious Diseases Horizontal Technology Center. Singapore Immunology Network. Agency for Science Technology (A*STAR)) ; Renieri, Alessandra (Medical Genetics. University of Siena) ; Rodríguez-Gallego, Carlos (Hospital Universitario de Gran Canaria Dr. Negrín) ; Sancho Shimizu, Vanessa (Imperial College London) ; Sankaran, Vijay (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Shahrooei, Mohammed (Saeed Pathobiology and Genetic Lab) ; Snow, Andrew (Uniformed Services University of the Health Sciences) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Tangye, Stuart (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Turvey, Stuart (University of British Columbia) ; Uddin, Furkan (Holy Family Red Crescent Medical College. Centre for Precision Therapeutics. NeuroGen Children's Healthcare. Genetics and Genomic Medicine Centre. NeuroGen Children's Healthcare) ; Uddin, Mohammed J. (Centre for Applied Genomics. Department of Genetics and Genome Biology. Hospital for Sick Children) ; van de Beek, Diederik (Amsterdam UMC. University Medical Center) ; Vazquez, Sara E. (University of California) ; Vinh, Donald C. (McGill University Health Centre) ; von Bernuth, Horst (Charité-Berlin University Hospital Center) ; Zawadzki, Pawel (Molecular Biophysics Division. Faculty of Physics. A. Mickiewicz University) ; Jing, H. (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, W. (NIAID Clinical Genomics Program. National Institutes of Health) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, E. (NIAID Clinical Genomics Program. National Institutes of Health) ; Jing, Huie (NIAID Clinical Genomics Program. National Institutes of Health) ; Tung, Wesley (NIAID Clinical Genomics Program. National Institutes of Health) ; Shafer, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, L. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Z. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, S. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, S. D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Meguro, K. (NIAID Clinical Genomics Program. National Institutes of Health) ; Shaw, Elana (NIAID Clinical Genomics Program. National Institutes of Health) ; Lenardo, M. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Luthers, Christopher R. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Bauman, Bradly M. (Department of Pharmacology & Molecular Therapeutics. Uniformed Services University of the Health Sciences) ; Shafer, Samantha (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zheng, Lixin (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Zhang, Zinan (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Kubo, Satoshi (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Chauvin, Samuel D. (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lenardo, Michael (Laboratory of Immune System Biology. Division of Intramural Research. NIAID. NIH) ; Lack, Justin (NIAID Collaborative Bioinformatics Resource. Frederick National Laboratory for Cancer Research. Leidos Biomedical Research. Inc.) ; Karlins, Eric (Bioinformatics and Computational Biosciences Branch. Office of Cyber Infrastructure and Computational Biology. NIAID. NIH) ; Hupalo, Daniel M. (American Genome Center. Uniformed Services University of the Health Sciences) ; Rosenberger, John (American Genome Center. Uniformed Services University of the Health Sciences) ; Sukumar, Gauthaman (American Genome Center. Uniformed Services University of the Health Sciences) ; Wilkerson, Matthew D. (American Genome Center. Uniformed Services University of the Health Sciences) ; Zhang, Xijun (American Genome Center. Uniformed Services University of the Health Sciences) ; Universitat Autònoma de Barcelona
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. [...]
2020 - 10.1126/science.abd4570
Science, Vol. 370 Núm. 6515 (23 2020) , p. eabd4570  
6.
6 p, 700.6 KB IMKT : the integrative McDonald and Kreitman test / Murga-Moreno, Jesus (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Coronado-Zamora, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Hervás Fernández, Sergi (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
The McDonald and Kreitman test (MKT) is one of the most powerful and widely used methods to detect and quantify recurrent natural selection using DNA sequence data. Here we present iMKT (acronym for integrative McDonald and Kreitman test), a novel web-based service performing four distinct MKT types. [...]
2019 - 10.1093/nar/gkz372
Nucleic acids research, Vol. 47, issue W1 (Jan. 2019) , p. W283-W288  
7.
18 p, 1.9 MB Analysis of porcine IGF2 gene expression in adipose tissue and its effect on fatty acid composition / Criado Mesas, Lourdes (Centre de Recerca en Agrigenòmica) ; Ballester Devis, Maria (Institut de Recerca i Tecnologia Agroalimentàries. Departament de Genètica i Millora Animal) ; Crespo-Piazuelo, Daniel (Centre de Recerca en Agrigenòmica) ; Castelló Farré, Anna (Centre de Recerca en Agrigenòmica) ; Benítez, Rita (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (Espanya). Departamento de Mejora Genética Animal) ; Fernández, Ana I. (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (Espanya). Departamento de Mejora Genética Animal) ; Folch, Josep M. (Centre de Recerca en Agrigenòmica) ; Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments
IGF2:g. 3072G>A polymorphism has been described as the causal mutation of a maternally imprinted QTL for muscle growth and fat deposition in pigs. The objective of the current work was to study the association between the IGF2:g. [...]
2019 - 10.1371/journal.pone.0220708
PloS one, Vol. 14, Issue 8 (August 2019) , p. e0220708  
8.
6 p, 1.1 MB Legionella SBT applied directly to respiratory samples as a rapid molecular epidemiological tool / Quero, Sara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Párraga-Niño, Noemí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Sabriá-Leal, M. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Barrabeig, Irene (Agència de Salut Pública de Catalunya) ; Sala, M. R. (Agència de Salut Pública de Catalunya) ; Jané i Checa, Mireia (Agència de Salut Pública de Catalunya) ; Mateu, Lourdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Sopena, Nieves (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pedro-Botet, M. L. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Garcia-Nuñez, Marian (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Universitat Autònoma de Barcelona
Legionnaires' disease (LD) is an atypical pneumonia caused by the inhalation of Legionella. The methods used for the diagnosis of LD are direct culture of respiratory samples and urinary antigen detection. [...]
2019 - 10.1038/s41598-018-36924-w
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 623  
9.
8 p, 1.3 MB COMT-by-sex interaction effect on psychosis proneness / De Castro-Catala, Marta (Universitat de Barcelona. Departament de Biologia Animal) ; Barrantes-Vidal, Neus (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Sheinbaum Frank, Tamara (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Moreno-Fortuny, Artal (Universitat de Barcelona. Departament de Biologia Animal) ; Kwapil, Thomas (University of North Carolina at Greensboro. Department of Psychology) ; Rosa, Araceli (Universitat de Barcelona. Departament de Biologia Animal)
Schizotypy phenotypes in the general population share etiopathogenic mechanisms and risk factors with schizophrenia, supporting the notion of psychosis as a continuum ranging from nonclinical to clinical deviance. [...]
2015 - 10.1155/2015/829237
BioMed Research International, Vol. 2015 (2015) , art. 829237  
10.
7 p, 508.5 KB Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk / Figlioli, Gisella (University of Pisa. Department of Biology) ; Chen, Bowang (German Cancer Research Center (DKFZ). Molecular Genetic Epidemiology (Germany)) ; Elisei, Rossella (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Romei, Cristina (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Campo, Chiara (University of Pisa. Department of Biology (Italy)) ; Cipollini, Monica (University of Pisa. Department of Biology (Italy)) ; Cristaudo, Alfonso (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Bambi, Franco (Blood Centre, Azienda Ospedaliero Universitaria A. Meyer (Italy)) ; Paolicchi, Elisa (University of Pisa. Department of Biology (Italy)) ; Hoffmann, Per (University of Basel (Suïssa). Department of Biomedicine) ; Herms, Stefan (University of Basel (Suïssa). Department of Biomedicine) ; Kalemba, Michał (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Kula, Dorota (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Pastor Benito, Susana (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Velázquez Henar, Antonia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Jarząb, Barbara (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Landi, Stefano (University of Pisa. Department of Biology (Italy)) ; Hemminki, Kari (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden)) ; Gemignani, Federica (University of Pisa. Department of Biology (Italy)) ; Försti, Asta (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden))
A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22. [...]
2015 - 10.1038/srep08922
Scientific reports, Vol. 5 (March 2015) , art. 8922  

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