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1.
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Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
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Amor-Salamanca, Almudena (Health in Code SL) ;
Santana Rodríguez, Alfredo (Universidad de Las Palmas de Gran Canaria) ;
Rasoul, Hazhee (St. Bartholomew's Hospital) ;
Rodríguez-Palomares, José F. (Hospital Universitari Vall d'Hebron) ;
Moldovan, Oana (Centro Hospitalar Universitário Lisboa Norte) ;
Hey, Thomas Morris (Odense University Hospital) ;
Gallego-Delgado, María (Instituto de Salud Carlos III) ;
Cuenca, David López (Hospital Clínico Universitario Virgen de la Arrixaca) ;
de Castro Campos, Daniel (Hospital Universitario Puerta de Hierro) ;
Basurte-Elorz, María Teresa (Complejo Hospitalario de Navarra) ;
Macías-Ruiz, Rosa (Instituto de Investigación Biosanitaria de Granada) ;
Fuentes Cañamero, María Eugenia (Hospital Universitario de Badajoz) ;
Galvin, Joseph (University College Dublin School of Medicine) ;
Bilbao Quesada, Raquel (Hospital Álvaro Cunqueiro) ;
de la Higuera Romero, Luis (Health in Code SL) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
García-Cruz, Loida María (Universidad de Las Palmas de Gran Canaria) ;
Cárdenas-Reyes, Ivonne (Health in Code SL) ;
Jiménez-Jáimez, Juan (Hospital Universitario Virgen de las Nieves) ;
García-Hernández, Soledad (Hospital Universitario San Cecilio) ;
Valverde-Gómez, María (Hospital Universitario 12 de Octubre) ;
Gómez-Díaz, Iria (Health in Code SL) ;
Limeres Freire, Javier (Hospital Universitari Vall d'Hebron) ;
García-Pinilla, José Manuel (Universidad de Málaga) ;
Gimeno-Blanes, Juan R. (Hospital Clínico Universitario Virgen de la Arrixaca) ;
Savattis, Konstantinos (Queen Mary University of London) ;
García-Pavía, Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Ochoa, Juan Pablo (Centro Nacional de Investigaciones Cardiovasculares) ;
Universitat Autònoma de Barcelona
Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association with left ventricular noncompaction (LVNC) and DCM has been proposed, it is still considered a gene with limited evidence for these phenotypes. [...]
2024 -  10.1161/CIRCGEN.123.004404
Circulation. Genomic and Precision Medicine, Vol. 17 (february 2024) , p. e004404
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2.
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11 p, 1.3 MB |
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools
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García-Prieto, Carlos A (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martínez Jiménez, Francisco (Institute for Research in Biomedicine (IRB Barcelona)) ;
Valencia, Alfonso (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Porta-Pardo, Eduard (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Motivation: The analysis of cancer genomes provides fundamental information about its etiology, the processes driving cell transformation or potential treatments. While researchers and clinicians are often only interested in the identification of oncogenic mutations, actionable variants or mutational signatures, the first crucial step in the analysis of any tumor genome is the identification of somatic variants in cancer cells (i. [...]
2022 - 10.1093/bioinformatics/btac306
Bioinformatics, Vol. 38 Núm. 12 (15 2022) , p. 3181-3191
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3.
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11 p, 2.6 MB |
Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
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Sánchez, Ricardo (Hospital Universitario 12 de Octubre (Madrid)) ;
Dorado, Sara (Universidad Carlos III de Madrid. Departamento de Informática e Ingeniería) ;
Ruíz-Heredia, Yanira (Altum Sequencing (Madrid)) ;
Martín-Muñoz, Alejandro (Altum Sequencing (Madrid)) ;
Rosa-Rosa, J.M. (Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid)) ;
Ribera Salas, Jordi (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García, Olga (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Jimenez-Ubieto, Ana (Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid)) ;
Carreño-Tarragona, Gonzalo (Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid)) ;
Linares, Maria (Universidad Complutense de Madrid. Departamento de Bioquímica y Biología Molecular) ;
Rufián, Laura (Altum Sequencing (Madrid)) ;
Juárez, Alexandra (Altum Sequencing (Madrid)) ;
Carrillo García, Jaime (Altum Sequencing (Madrid)) ;
Espino, María José (Hospital Universitario 12 de Octubre (Madrid)) ;
Cáceres, Mercedes (Hospital Universitario 12 de Octubre (Madrid)) ;
Expósito, Sara (Instituto Cajal (Consejo Superior de Investigaciones Científicas)) ;
Cuevas, Beatriz (Hospital Universitario de Burgos) ;
Vanegas, Raúl (Hospital General Universitario de Ciudad Real) ;
Casado Montero, Luis Felipe (Hospital Virgen de la Salud (Toledo)) ;
Torrent Catarineu, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mercadal, Santiago (Hospital Duran i Reynals (Barcelona)) ;
Coll, Rosa (Hospital Universitari de Girona Doctor Josep Trueta) ;
Cervera, Marta (Hospital Universitari Joan XXIII de Tarragona) ;
Morgades, Mireia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Hernández-Rivas, José Angel (Hospital Universitario Infanta Leonor) ;
Bravo, Pilar (Hospital Universitario de Fuenlabrada ( Madrid)) ;
Serí, Cristina (Hospital Central de la Defensa Gómez Ulla) ;
Anguita, Eduardo (Hospital Clínico San Carlos (Madrid)) ;
Barragán, Eva (Hospital Universitari i Politècnic La Fe (València)) ;
Sargas, Claudia (Hospital Universitari i Politècnic La Fe (València)) ;
Ferrer-Marín, Francisco (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Sánchez-Calero, Jorge (Hospital Universitario de Móstoles (Madrid)) ;
Sevilla, Julián (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Ruíz, Elena (Hospital del Tajo) ;
Villalón, Lucía (Hospital Universitario Fundación Alcorcón) ;
Herráez, María del Mar (Hospital Santa Bárbara) ;
Riaza, Rosalía (Hospital Universitario Severo Ochoa) ;
Magro, Elena (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ;
Steegman, Juan Luís (Hospital Universitario de la Princesa (Madrid)) ;
Wang, Chongwu (Hosea Precision Medical Technology (Xina)) ;
de Toledo, Paula (Universidad Carlos III de Madrid. Departamento de Informática e Ingeniería) ;
García-Gutiérrez, Valentín (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Ayala, Rosa (Centro de Investigación Biomédica en Red de Cáncer) ;
Ribera, Jose-Maria (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Barrio, Santiago (Altum Sequencing (Madrid)) ;
Martínez-López, Joaquín (Centro de Investigación Biomédica en Red de Cáncer) ;
Universitat Autònoma de Barcelona
The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. [...]
2022 - 10.1038/s41598-022-17271-3
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 13057
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4.
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13 p, 941.6 KB |
Pretreatment tissue TCR repertoire evenness is associated with complete pathologic response in patients with NSCLC receiving neoadjuvant chemoimmunotherapy
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Casarrubios, Marta (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ;
Cruz-Bermúdez, Alberto (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ;
Nadal, Ernest (Institut Català d'Oncologia) ;
Insa, Amelia (Hospital Clínic Universitari (València)) ;
García Campelo, María del Rosario (Complejo Hospitalario Universitario de A Coruña) ;
Lázaro, Martín (Hospital Universitario de Vigo) ;
Dómine Gómez, Manuel (Hospital Universitario Fundación Jiménez Díaz) ;
Majem, Margarita (Institut d'Investigació Biomèdica Sant Pau) ;
Rodríguez-Abreu, Delvys (Hospital Universitario Insular de Gran Canaria) ;
Martinez-Marti, Alex (Vall d'Hebron Institut d'Oncologia) ;
de Castro, Javier (Hospital Universitario La Paz (Madrid)) ;
Cobo, Manuel (Hospital Regional Universitario de Málaga) ;
López-Vivanco, Guillermo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Del Barco Morillo, Edel (Hospital Universitario de Salamanca) ;
Bernabé, Reyes (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Viñolas, Nuria (Hospital Clínic i Provincial de Barcelona) ;
Barneto Aranda, Isidoro (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Viteri, Santiago (Instituto Oncológico Dr. Rosell. Hospital Universitario Quiron Dexeus) ;
Massuti, Bartomeu (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Barquín, Miguel (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ;
Laza-Briviesca, Raquel (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ;
Sierra-Rodero, Belén (Instituto de Investigación Sanitaria Puerta de Hierro - Segovia de Arana) ;
Parra, Edwin R. (The University of Texas. Department of Translational Molecular Pathology) ;
Sanchez-Espiridion, Beatriz (The University of Texas. Department of Translational Molecular Pathology) ;
Rocha, Pedro (The University of Texas. Department of Translational Molecular Pathology) ;
Kadara, Humam (The University of Texas. Department of Translational Molecular Pathology) ;
Wistuba, Ignacio I. (The University of Texas. Department of Translational Molecular Pathology) ;
Romero, Atocha (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Calvo, Virginia (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Provencio, Mariano (Hospital Universitario Puerta de Hierro Majadahonda (Madrid))
Purpose: Characterization of the T-cell receptor (TCR) repertoire may be a promising source for predictive biomarkers of pathologic response to immunotherapy in locally advanced non-small cell lung cancer (NSCLC). [...]
2021 - 10.1158/1078-0432.CCR-21-1200
Clinical Cancer Research, Vol. 27 Núm. 21 (November 2021) , p. 5878-5890
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5.
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11 p, 1.0 MB |
IgIDivA : immunoglobulin intraclonal diversification analysis
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Zaragoza-Infante, Laura (Aristotle University of Thessalonik) ;
Junet, Valentin (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pechlivanis, Nikos (Centre for Research and Technology Hellas (Tessalònica, Grècia)) ;
Fragkouli, Styliani-Christina (Centre for Research and Technology Hellas (Tessalònica, Grècia)) ;
Amprachamian, Serovpe (Centre for Research and Technology Hellas (Tessalònica, Grècia)) ;
Koletsa, Triantafyllia (Aristotle University of Thessaloniki) ;
Chatzidimitriou, Anastasia (Centre for Research and Technology Hellas (Tessalònica, Grècia)) ;
Papaioannou, Maria (Aristotle University of Thessaloniki) ;
Stamatopoulos, Kostas (Centre for Research and Technology Hellas (Tessalònica, Grècia)) ;
Agathangelidis, Andreas (University of Athens) ;
Psomopoulos, Fotis (Centre for Research and Technology Hellas (Tessalònica, Grècia))
Intraclonal diversification (ID) within the immunoglobulin (IG) genes expressed by B cell clones arises due to ongoing somatic hypermutation (SHM) in a context of continuous interactions with antigen(s). [...]
2022 - 10.1093/bib/bbac349
Briefings in Bioinformatics, Vol. 23, Issue 5 (September 2022) , art. bbac349
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6.
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17 p, 5.5 MB |
Identifying the Specific Root Microbiome of the Hyperaccumulator Noccaea brachypetala Growing in Non-metalliferous Soils
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Martos Arias, Soledad (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Busoms, Silvia (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Pérez-Martín, Laura (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Llugany i Ollé, Mercè (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Cabot, Catalina (Universitat de les Illes Balears) ;
Poschenrieder, Charlotte (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Noccaea brachypetala is a close relative of Noccaea caerulescens, a model plant species used in metal hyperaccumulation studies. In a previous survey in the Catalan Pyrenees, we found two occidental and two oriental N. [...]
2021 - 10.3389/fmicb.2021.639997
Frontiers in microbiology, Vol. 12 (May 2021) , art. 639997
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7.
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15 p, 2.0 MB |
High-Throughput Sequencing to Investigate Associations Between HLA Genes and Metamizole-Induced Agranulocytosis
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Cismaru, Anca Liliana (University of Bern) ;
Grimm, Livia (Bern University Hospital) ;
Rudin, Deborah (University of Basel) ;
Ibáñez, Luisa (Hospital Universitari Vall d'Hebron) ;
Liakoni, Evangelia (University of Bern) ;
Bonadies, Nicolas (Bern University Hospital) ;
Kreutz, Reinhold (Charité - Universitätsmedizin Berlin) ;
Hallberg, Pär (Uppsala University) ;
Wadelius, Mia (Uppsala University) ;
Haschke, Manuel (University of Bern) ;
Largiadèr, Carlo R. (Bern University Hospital) ;
Amstutz, Ursula (Bern University Hospital) ;
Universitat Autònoma de Barcelona
Background and Objective: Agranulocytosis is a rare and potentially life-threatening complication of metamizole (dipyrone) intake that is characterized by a loss of circulating neutrophil granulocytes. [...]
2020 - 10.3389/fgene.2020.00951
Frontiers in genetics, Vol. 11 (august 2020)
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8.
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14 p, 787.7 KB |
A High-Throughput Screening Identifies MicroRNA Inhibitors That Influence Neuronal Maintenance and/or Response to Oxidative Stress
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Pallarès-Albanell, Joan (Centre de Regulació Genòmica) ;
Zomeño-Abellán, M. Teresa (Centre de Regulació Genòmica) ;
Escaramís, Georgia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Pantano, Lorena (Harvard T.H. Chan School of Public Health. Department of Biostatistics) ;
Soriano, Aroa (Hospital Universitari Vall d'Hebron) ;
Segura, Miguel F. (Hospital Universitari Vall d'Hebron) ;
Martí, Eulàlia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Universitat Autònoma de Barcelona
Small non-coding RNAs (sncRNAs), including microRNAs (miRNAs) are important post-transcriptional gene expression regulators relevant in physiological and pathological processes. Here, we combined a high-throughput functional screening (HTFS) platform with a library of antisense oligonucleotides (ASOs) to systematically identify sncRNAs that affect neuronal cell survival in basal conditions and in response to oxidative stress (OS), a major hallmark in neurodegenerative diseases. [...]
2019 - 10.1016/j.omtn.2019.06.007
Molecular Therapy. Nucleic Acids, Vol. 17 (june 2019) , p. 374-387
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9.
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16 p, 1.4 MB |
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines
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Huang, W. (North Carolina State University. Department of Biological Sciences) ;
Massouras, A. (Ecole Polytechnique Fédérale de Lausanne. Institute of Bioengineering) ;
Inoue, Y. (Osaka University. Center for Education in Liberal Arts and Sciences) ;
Peiffer, J. (North Carolina State University. Department of Biological Sciences) ;
Ràmia Jesús, Miquel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Tarone, A. M. (Texas AandM University. Department of Entomology) ;
Turlapati, L. (North Carolina State University. Department of Biological Sciences) ;
Zichner, T. (European Molecular Biology Laboratory) ;
Zhu, Dianhui (Baylor College of Medicine. Human Genome Sequencing Center) ;
Lyman, R. F. (North Carolina State University. Department of Biological Sciences) ;
Magwire, M. M. (North Carolina State University. Department of Biological Sciences) ;
Blankenburg, K. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Carbone, M. A. (North Carolina State University. Department of Biological Sciences) ;
Chang, K. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Ellis, L. L. (Texas AandM University. Department of Entomology) ;
Fernandez, S. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Han, Y. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Highnam, G. (Virginia Tech. Virginia Bioinformatics Institute) ;
Hjelmen, C. E. (Texas AandM University. Department of Entomology) ;
Jack, J. R. (North Carolina State University. Department of Biological Sciences) ;
Javaid, M. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Jayaseelan, J. C (Baylor College of Medicine. Human Genome Sequencing Center) ;
Kalra, D. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Lee, S. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Lewis, Lora (Baylor College of Medicine. Human Genome Sequencing Center) ;
Munidasa, M. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Ongeri, F. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Patel, Shohba (Baylor College of Medicine. Human Genome Sequencing Center) ;
Perales, L. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Perez, Agapito (Baylor College of Medicine. Human Genome Sequencing Center) ;
Pu, L. L. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Rollmann, S. M. (North Carolina State University. Department of Biological Sciences) ;
Ruth, R. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Saada, N. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Warner, C. (Shell International Exploration and Production, Inc.) ;
Williams, A. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Wu, Y. Q. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Yamamoto, A. (North Carolina State University. Department of Biological Sciences) ;
Zhang, Yiqing (Baylor College of Medicine. Human Genome Sequencing Center) ;
Zhu, Y. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Anholt, Robert R. H (North Carolina State University. Department of Biological Sciences) ;
Korbel, Jan O. (European Molecular Biology Laboratory) ;
Mittelman, D. (Virginia Tech. Virginia Bioinformatics Institute. Department of Biological Sciences) ;
Muzny, D. M. (Baylor College of Medicine. Human Genome Sequencing Centere) ;
Gibbs, R. A. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Johnston, J. S. (Texas AandM University. Department of Entomology) ;
Stone, E. A. (North Carolina State University. Department of Biological Sciences) ;
Richards, S. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Deplancke, Bart (Swiss Institute of Bioinformatics) ;
MacKay, T. F. C (North Carolina State University. Department of Biological Sciences)
The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. [...]
2014 - 10.1101/gr.171546.113
Genome research, Vol. 24, issue 7 (July 2014) , p. 1193-1208
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10.
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14 p, 3.9 MB |
Systems analysis reveals complex biological processes during virus infection fate decisions
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Argilaguet, Jordi 1977- (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Pedragosa, Mireia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Esteve-Codina, Anna (Universitat Pompeu Fabra) ;
Riera, G. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Vidal Barba, Enric (Institut de Recerca i Tecnologia Agroalimentàries. Centre de Recerca en Sanitat Animal) ;
Peligero-Cruz, C. (Weizmann Institute of Science (Israel). Department of Immunology) ;
Casella, Valentina (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Andreu Martínez, David (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Kaisho, T. (Osaka University. Laboratory for Immune Regulation. World Premier International Research Center Initiative.) ;
Bocharov, Gennady (Sechenov First Moscow State Medical University) ;
Ludewig, B. (Institute for Immunobiology.) ;
Heath, Simon (Universitat Pompeu Fabra) ;
Meyerhans, A. (Institució Catalana de Recerca i Estudis Avançats)
The processes and mechanisms of virus infection fate decisions that are the result of a dynamic virus-immune system interaction with either an efficient effector response and virus elimination or an alleviated immune response and chronic infection are poorly understood. [...]
2019 - 10.1101/gr.241372.118
Genome research, Vol. 29 Núm. 6 (2019) , p. 907-919
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