Depósito Digital de Documentos de la UAB Encontrados 5 registros  La búsqueda tardó 0.00 segundos. 
1.
15 p, 939.3 KB Evaluating the Genetics of Common Variable Immunodeficiency : Monogenetic Model and Beyond / de Valles-Ibáñez, Guillem (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Esteve-Solé, Ana (Hospital Clínic i Provincial de Barcelona) ; Piquer, Mònica (Hospital Clínic i Provincial de Barcelona) ; González-Navarro, E. Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Hernandez-Rodriguez, Jessica (Universitat Pompeu Fabra) ; Laayouni, Hafid (Universitat Pompeu Fabra) ; González-Roca, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Plaza-Martin, Ana María (Hospital Clínic i Provincial de Barcelona) ; Deyà-Martínez, Ángela (Hospital Clínic i Provincial de Barcelona) ; Martín-Nalda, Andrea (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Garcia-Prat, Marina (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; del Pino-Molina, Lucía (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Cusco, Ivon (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Codina Solà, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Batlle-Masó, Laura (Universitat Pompeu Fabra) ; Solís-Moruno, Manuel (Universitat Pompeu Fabra) ; Marquès-Bonet, Tomàs (Barcelona Institute of Science and Technology (BIST)) ; Bosch, Elena (Universitat Pompeu Fabra) ; López-Granados, Eduardo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Soler-Palacín, Pere (Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Yagüe, Jordi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Alsina Manrique, Laia (Hospital Clínic i Provincial de Barcelona) ; Juan, Manel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. [...]
2018 - 10.3389/fimmu.2018.00636
Frontiers in immunology, Vol. 9 (may 2018)  
2.
12 p, 1.3 MB The genetic impact of an Ebola outbreak on a wild gorilla population / Fontsere, Claudia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Frandsen, Peter (University of Copenhagen. Department of Biology. Section for Computational and RNA Biology) ; Hernandez Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Niemann, Jonas (University of Copenhagen. Center for Evolutionary Hologenomics. The GLOBE Institute) ; Hjorth Scharff-Olsen, Camilla (University of Copenhagen. Center for Evolutionary Hologenomics. The GLOBE Institute) ; Vallet, Dominique (Centre National de la Recherche Scientifique. University of Rennes. ECOBIO: Ecosystems, Biodiversity, Evolution) ; Le Gouar, Pascaline (Centre National de la Recherche Scientifique. University of Rennes. ECOBIO: Ecosystems, Biodiversity, Evolution) ; Ménard, Nelly (Centre National de la Recherche Scientifique. University of Rennes. ECOBIO: Ecosystems, Biodiversity, Evolution) ; Navarro, Arcadi, 1969- (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Siegismund, Hans R. (University of Copenhagen. Department of Biology. Section for Computational and RNA Biology) ; Hvilsom, Christina (Copenhagen Zoo. Research and Conservation) ; Gilbert, M. Thomas P. (University of Copenhagen. Center for Evolutionary Hologenomics. The GLOBE Institute) ; Kuhlwilm, Martin (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Hughes, David (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont)
Background: Numerous Ebola virus outbreaks have occurred in Equatorial Africa over the past decades. Besides human fatalities, gorillas and chimpanzees have also succumbed to the fatal virus. The 2004 outbreak at the Odzala-Kokoua National Park (Republic of Congo) alone caused a severe decline in the resident western lowland gorilla (Gorilla gorilla gorilla) population, with a 95% mortality rate. [...]
2021 - 10.1186/s12864-021-08025-y
BMC genomics, Vol. 22 (October 2021) , art. 735  
3.
5 p, 788.2 KB Great ape genetic diversity and population history / Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Sudmant, Peter H. (Department of Genome Sciences. University of Washington) ; Kidd, Jeffrey (Department of Genetics. Stanford University) ; Li, Heng (Department of Genetics. Harvard Medical School, Boston) ; Kelley, Joanna (Department of Genetics. Stanford University) ; Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Veeramah, Krishna (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; Woerner, August (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; O'Connor, Timothy (Department of Genome Sciences. University of Washington) ; Santpere, Gabriel (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Cagan, Alexander (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Theunert, Christoph (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Casals, Ferran (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Laayouni, Hafid (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Munch Terkelsen, Kasper (Aarhus University. Bioinformatics Research Centre) ; Hobolth, Asger (Aarhus University. Bioinformatics Research Centre) ; Halager, Anders E. (Aarhus University. Bioinformatics Research Centre) ; Malig, Maika (Department of Genome Sciences. University of Washington) ; Hernandez-Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Hernando-Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Prüfer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Pybus, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Johnstone, Laurel (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; Lachmann, Michael (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Alkan, Can (Bilkent University. Faculty of Engineering) ; Twigg, Dorina (Department of Human Genetics. University of Michigan) ; Petit Marty, Natalia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Baker, Carl (Department of Genome Sciences. University of Washington) ; Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ; Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Wilson, Michael L. (Department of Anthropology. University of Minnesota) ; Stevison, Laurie (Institute for Human Genetics. University of California San Francisco) ; Camprubí Sánchez, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Carvalho, Tiago (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Vives, Laura T. (Department of Genome Sciences. University of Washington) ; Mele, Marta (Centre de Regulació Genòmica) ; Abelló, María Teresa. (Zoo de Barcelona) ; Kondova, Ivanela (Biomedical Primate Research Centre) ; Bontrop, Ronald (Biomedical Primate Research Centre) ; Pusey, Anne E (Duke University. Department of Evolutionary Anthropology) ; Lankester, Felix (Washington State University. Paul G. Allen School for Global Animal Health) ; Kiyang, John A. (Limbe Wildlife Centre) ; Bergl, Richard A. (North Carolina Zoological Park) ; Lonsdorf, E. (Franklin and Marshall College. Department of Psychology) ; Myers, S. (Oxford University. Department of Statistics) ; Ventura, M. (University of Bari. Department of Genetics and Microbiology) ; Gagneux, Pascal (University of California San Diego. Department of Cellular and Molecular Medicine) ; Comas, D. (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Siegismund, H. (University of Copenhagen Department of Biology, Bioinformatics) ; Blanc, Julie (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Agueda Calpena, Lidia (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Gut, Marta (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Fulton, L. A (Washington University School of Medicine. Genome Sequencing Center) ; Tishkoff, S. A. (University of Pennsylvania. Department of Biology and Genetics) ; Mullikin, J. C. (National Institutes of Health Intramural Sequencing Center (Bethesda, Estats Units d'Amèrica)) ; Wilson, R. K. (Washington University School of Medicine. Genome Sequencing Center) ; Gut, I. G. (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Gonder, M. K. (University at Albany) ; Ryder, O. A. (Genetics Division. San Diego Zoo's Institute for Conservation Research) ; Hahn, B. H. (University of Pennsylvania. Departments of Medicine and Microbiology) ; Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ; Akey, J. M. (University of Washington. Department of Genome Sciences) ; Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Reich, D. (Harvard Medical School. Department of Genetics) ; Mailund, Thomas (Aarhus University. Bioinformatics Research Centre) ; Schierup, Mikkel Heide (Aarhus University. Department of Bioscience) ; Hvilsom, Christina (Copenhagen Zoo) ; Andrés, A. M. (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Wall, J. D. (University of California San Francisco. Institute for Human Genetics) ; Bustamante, Carlos D (Stanford University. Department of Genetics) ; Hammer, M. F. (University of Arizona. Arizona Research Laboratories. Division of Biotechnology) ; Eichler, Evan E (Howard Hughes Medical Institute) ; Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88. [...]
2013 - 10.1038/nature12228
Nature, Vol. 499, issue 7459 (July 2013) , p. 471-475  
4.
13 p, 561.5 KB Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human / McCartney, Ann M. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Hyland, Edel M. (Queens University Belfast. Institute for Global Food Security) ; Cormican, Paul (Animal and Grassland Research and Innovation Centre (Irlanda)) ; Moran, Raymond J. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Webb, Andrew E. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Lee, Kate D. (Massey University (New Zealand)) ; Hernandez Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Creevey, Christopher J. (Aberystwyth University. Institute of Biological, Environmental and Rural Sciences) ; Aspden, Julie L. (University of Leeds. School of Molecular and Cellular Biology) ; McInerney, James O. (University of Nottingham. School of Life Sciences) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ; O'Connell, Mary J. (University of Nottingham. School of Life Sciences)
Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail have been associated with novel functions, for example, the hominid-specific PIPSL gene, TNFSF12, and the TWE-PRIL gene family. [...]
2019 - 10.1093/gbe/evz163
Genome biology and evolution, Vol. 11, Issue 9 (September 2019) , p. 2678-2690  
5.
Hado / Rodriguez Sanchez, Claudia ; Massegué, Mireia ; Ávalos del Pino, Carmen ; Longhi, Ludovico ; Sánchez, Laia ; Hernandez Velarde, Jessica ; Suárez Favretto, Manuela ; Palau Sindreu, Josep ; Marti Tulla, Claudia ; Mendo Gonzalez, Eric ; Botello Tarifa, Annabel ; Soria Carro, Marta ; Bois Brillant Andreu, Eliane Louise de ; Orpella Perez, Manuel ; Bricolle Nadal, Ginebra ; Jorba Marti, Claudia ; Rodriguez Sanchez, Claudia ; Universitat Autònoma de Barcelona. Facultat de Ciències de la Comunicació ; Teoría y Técnica de la Producción y Dirección Cinematográfica
[2012]  

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