Articles (Center for Genomic Regulation (CRG)): Recent submissions

  • Puente, Xosé S.; Escaramís, Geòrgia; Bassaganyas Bars, Laia, 1985-; Tubio, José M. C.; Tornador Antolin, Cristian, 1979-; Himmelbauer, Heinz; Castillo Andreo, Esther; Dohm, Juliane C.; Guigó Serra, Roderic; Estivill, Xavier, 1955-; Campo, Elias (Nature Research, 2011)
    Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, ...
  • Taal, H. Rob; Guxens Junyent, Mònica; Sunyer Deu, Jordi; Estivill, Xavier, 1955-; Jaddoe, Vincent W. V. (Nature Research, 2012)
    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy ...
  • Lagarde, Julien; Uszczynska-Ratajczak, Barbara; Carbonell, Silvia; Pérez-Lluch, Sílvia; Davis, Carrie A.; Gingeras, Thomas R.; Frankish, Adam; Harrow, Jennifer; Guigó Serra, Roderic; Johnson, Rory (Nature Research, 2017)
    Accurate annotation of genes and their transcripts is a foundation of genomics, but currently no annotation technique combines throughput and accuracy. As a result, reference gene collections remain incomplete-many gene ...
  • Ardlie, Kristin G.; Guigó Serra, Roderic (Elsevier, 2017)
    Characterizing and interpreting the function of the millions of genetic variants in the human genome is a pressing need in medical and evolutionary genomics and is fundamental to understanding the molecular, cellular, and ...
  • Angiolini, Francesca; Irimia, Manuel; Chigna, Claudia (eLife, 2019)
    The biological players involved in angiogenesis are only partially defined. Here, we report that endothelial cells (ECs) express a novel isoform of the cell-surface adhesion molecule L1CAM, termed L1-ΔTM. The splicing ...
  • The STAR consortium; Guigó Serra, Roderic; López Bigas, Núria; Shikhagaie, Medya; Hubner, Norbert (Nature Research, 2008)
    The laboratory rat is one of the most extensively studied model organisms. Inbred laboratory rat strains originated from limited Rattus norvegicus founder populations, and the inherited genetic variation provides an excellent ...
  • Zanzoni, Andreas; Spinelli, Lionel; Ribeiro, Diogo M.; Tartaglia, Gian Gaetano; Brun, Christine (Nature Research, 2019)
    The coordination of the synthesis of functionally-related proteins can be achieved at the post-transcriptional level by the action of common regulatory molecules, such as RNA-binding proteins (RBPs). Despite advances in ...
  • Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui, Juan Ignacio (Nature Research, 2019)
    Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We ...
  • Julià, Antonio; Bonàs-Guarch, Silvia; Mercader Bigas, Josep Maria; Torrents, David; Fernández-Nebro, Antonio (BioMed Central, 2018)
    Background: Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with a complex genetic inheritance. Genome-wide association studies (GWAS) have significantly increased the number of significant loci ...
  • Alemany-Navarro, María; Costas, Javier; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Domènech Salgado, Laura, 1989-; Rabionet, Raquel; Carracedo, Ángel; Menchón, José M.; Alonso, Pino (Nature Research, 2019)
    The rate of response to pharmacological treatment in Obsessive-compulsive disorder (OCD) oscillates between 40 and 70%. Genetic and environmental factors have been associated with treatment response in OCD. This study ...
  • di Domenico, Angelique; Carola, Giulia; Calatayud, Carles; Pons Espinal, Meritxell, 1986-; Muñoz, Juan Pablo; Richaud Patin, Yvonne; Fernández Carasa, Irene; Gut, Marta; Faella, Armida; Parameswaran, Janani, 1990-; Soriano, Jordi; Ferrer, Isidre; Tolosa, Eduard; Zorzano, Antonio; Cuervo, Ana Maria; Raya Chamorro, Ángel; Consiglio, Antonella (Elsevier, 2019)
    Parkinson's disease (PD) is associated with the degeneration of ventral midbrain dopaminergic neurons (vmDAns) and the accumulation of toxic α-synuclein. A non-cell-autonomous contribution, in particular of astrocytes, ...
  • Theka, Ilda, 1984-; Sottile, Francesco, 1988-; Cammisa, Marco; Bonnin, Sarah; Sanchez-Delgado, Marta; Di Vicino, Umberto; Neguembor, Maria Victoria; Arumugam, Karthik; Aulicino, Francesco, 1987-; Monk, David; Riccio, Andrea; Cosma, Maria Pia, 1970- (Nature Research, 2019)
    Mouse embryonic stem cells (mESCs) are pluripotent and can differentiate into cells belonging to the three germ layers of the embryo. However, mESC pluripotency and genome stability can be compromised in prolonged in vitro ...
  • González-Rincón, Julia; Gómez, Sagrario; Martinez, Nerea; Troulé, Kevin; Perales-Patón, Javier; Derdak, Sophia; Beltran, Sergi; Fernández-Cuevas, Belén; Pérez-Sanz, Nuria; Nova-Gurumeta, Sara; Gut, Ivo Glynne; Al-Shahrour, Fátima; Piris, Miguel A.; García-Marco, J. A.; Sánchez-Beato, Margarita (Nature Research, 2019)
    Chronic lymphocytic leukaemia is the most prevalent leukaemia in Western countries. It is an incurable disease characterized by a highly variable clinical course. Chronic lymphocytic leukaemia is an ideal model for studying ...
  • Montánchez, Itxaso; Ogayar, Elixabet; Hernández Plágaro, Ander; Esteve-Codina, Anna; Gómez-Garrido, Jèssica; Orruño, Maite; Arana, Inés; Kaberdin, Vladimir R. (Nature Research, 2019)
    Discovering the means to control the increasing dissemination of pathogenic vibrios driven by recent climate change is challenged by the limited knowledge of the mechanisms in charge of Vibrio spp. persistence and spread ...
  • Maitre, Léa; de Bont, Jeroen; Casas Sanahuja, Maribel; Robinson, Oliver; Basagaña Flores, Xavier; Borràs, Eva; Bustamante Pineda, Mariona; de Castro, Montserrat; Donaire González, David; Estivill, Xavier, 1955-; Fossati, Serena; González, Juan R.; Hernández-Ferrer, Carles; Júlvez Calvo, Jordi; Manzano Salgado, Cyntia Beatriz, 1987-; Sabidó Aguadé, Eduard, 1981-; Sunyer Deu, Jordi; Tamayo-Uria, Ibon; Urquiza, José M.; van Gent, Diana; Vives Usano, Marta, 1990-; Warembourg, Charline; Nieuwenhuijsen, M.; Vrijheid, Martine (BMJ Publishing Group, 2018)
    PURPOSE: Essential to exposome research is the collection of data on many environmental exposures from different domains in the same subjects. The aim of the Human Early Life Exposome (HELIX) study was to measure and ...
  • Rogers, Jeffrey; Marquès i Bonet, Tomàs, 1975-; Baboon Genome Analysis Consortium (American Association for the Advancement of Science (AAAS), 2019)
    Recent studies suggest that closely related species can accumulate substantial genetic and phenotypic differences despite ongoing gene flow, thus challenging traditional ideas regarding the genetics of speciation. Baboons ...
  • Köhler, Sebastian; Beltran, Sergi; Lochmüller, Hanns (Oxford University Press, 2019)
    The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems ...
  • Frankish, Adam; Carbonell Sala, Silvia; Lagarde, Julien; Guigó Serra, Roderic (Oxford University Press, 2019)
    The accurate identification and description of the genes in the human and mouse genomes is a fundamental requirement for high quality analysis of data informing both genome biology and clinical genomics. Over the last 15 ...
  • Lang, Benjamin; Armaos, Alexandros; Tartaglia, Gian Gaetano (Oxford University Press, 2019)
    Protein-RNA interactions are implicated in a number of physiological roles as well as diseases, with molecular mechanisms ranging from defects in RNA splicing, localization and translation to the formation of aggregates. ...
  • Quesada, Víctor; Kuderna, Lukas F.K.; Marquès i Bonet, Tomàs, 1975-; López Otín, Carlos (Nature Research, 2019)
    Giant tortoises are among the longest-lived vertebrate animals and, as such, provide an excellent model to study traits like longevity and age-related diseases. However, genomic and molecular evolutionary information on ...

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