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

  • Ronchetti, Domenica; Favasuli, Vanessa; Monti, Paola; Cutrona, Giovanna; Fabris, Sonia; Silvestris, Ilaria; Agnelli, Luca; Colombo, Monica; Menichini, Paola; Matis, Serena; Gentile, Massimo; Nurtdinov, Ramil; Guigó Serra, Roderic; Baldini, Luca; Fronza, Gilberto; Ferrarini, Manlio; Morabito, Fortunato; Neri, Antonino; Taiana, Elisa (MDPI, 2020)
    The biological role and therapeutic potential of long non-coding RNAs (lncRNAs) in chronic lymphocytic leukemia (CLL) are still open questions. Herein, we investigated the significance of the lncRNA NEAT1 in CLL. We examined ...
  • Puighermanal Puigvert, Emma, 1983-; Castell, Laia; Esteve-Codina, Anna; Melser, Su; Kaganovsky, Konstantin; Zussy, Charleine; Boubaker-Vitre, Jihane; Gut, Marta; Rialle, Stephanie; Kellendonk, Christoph; Sanz, Elisenda; Quintana, Albert; Marsicano, Giovanni; Martin, Miquel; Rubinstein, Marcelo; Girault, Jean-Antoine; Ding, Jun B.; Valjent, Emmanuel (Nature Research, 2020)
    Action control is a key brain function determining the survival of animals in their environment. In mammals, neurons expressing dopamine D2 receptors (D2R) in the dorsal striatum (DS) and the nucleus accumbens (Acb) jointly ...
  • Quinn, Thomas P.; Erb, Ionas (American Society for Microbiology, 2020)
    Since the turn of the century, technological advances have made it possible to obtain the molecular profile of any tissue in a cost-effective manner. Among these advances are sophisticated high-throughput assays that measure ...
  • Bastos, Rafael Wesley; Marcet Houben, Marina; Gabaldón Estevan, Juan Antonio, 1973-; Goldman, Gustavo H. (American Society for Microbiology, 2020)
    Aspergillus nidulans is an opportunistic fungal pathogen in patients with immunodeficiency, and virulence of A. nidulans isolates has mainly been studied in the context of chronic granulomatous disease (CGD), with ...
  • Kakumani, Pavan Kumar; Harvey, Louis-Mathieu; Houle, François; Guitart, Tanit; Gebauer, Fátima; Simard, Martin J. (Life Science Alliance, 2020)
    In animals, miRNAs are the most prevalent small non-coding RNA molecules controlling posttranscriptional gene regulation. The Argonaute proteins (AGO) mediate miRNA-guided gene silencing by recruiting multiple factors ...
  • Onywera, Harris; Williamson, Anna-Lise; Cozzuto, Luca; Bonnin, Sarah; Mbulawa, Zizipho Z.A.; Coetzee, David; Ponomarenko, Julia; Meiring, Tracy L. (BioMed Central, 2020)
    Background: To date, the microbiota of the human penis has been studied mostly in connection with circumcision, HIV risk and female partner bacterial vaginosis (BV). These studies have shown that male circumcision reduces ...
  • García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-García, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltran, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.; Ayuso, Carmen (Molecular Vision, 2020)
    PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels ...
  • Hernandez-Alias, Xavier; Benisty, Hannah, 1986-; Schaefer, Martin H.; Serrano Pubull, Luis, 1982- (Wiley-VCH Verlag, 2020)
    Different tissues express genes with particular codon usage and anticodon tRNA repertoires. However, the codon-anticodon co-adaptation in humans is not completely understood, nor is its effect on tissue-specific protein ...
  • Julca, Irene; Marcet Houben, Marina; Cruz, Fernando; Vargas-Chavez, Carlos; Johnston, John Spencer; Gómez Garrido, Jèssica; Frias, Leonor; Corvelo, André; Loska, Damian; Cámara, Francisco; Gut, Marta; Alioto, Tyler; Latorre, Amparo; Gabaldón Estevan, Juan Antonio, 1973- (Oxford University Press, 2020)
    Aphids (Aphidoidea) are a diverse group of hemipteran insects that feed on plant phloem sap. A common finding in studies of aphid genomes is the presence of a large number of duplicated genes. However, when these duplications ...
  • Stratakis, Nikos; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; Basagaña Flores, Xavier; Bustamante Pineda, Mariona; Casas Sanahuja, Maribel; Fossati, Serena; González Ruiz, Juan Ramón; Maitre, Léa; Urquiza, José M.; Vrijheid, Martine; Chatzi, Leda (JAMA Network, 2020)
    IMPORTANCE: The balance of mercury risk and nutritional benefit from fish intake during pregnancy for the metabolic health of offspring to date is unknown. OBJECTIVE: To assess the associations of fish intake and mercury ...
  • Haify, Saif N.; Botta Orfila, Teresa; Hukema, Renate K.; Tartaglia, Gian Gaetano (Frontiers Media, 2020)
    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative monogenetic disorder affecting carriers of premutation (PM) forms of the FMR1 gene, resulting in a progressive development of tremors, ...
  • Cozzuto, Luca; Liu, Huanle; Pryszcz, Leszek Piotr, 1985-; Hermoso Pulido, Antonio; Delgado-Tejedor, Anna; Ponomarenko, Julia; Novoa, Eva Maria (Frontiers Media, 2020)
    The direct RNA sequencing platform offered by Oxford Nanopore Technologies allows for direct measurement of RNA molecules without the need of conversion to complementary DNA, fragmentation or amplification. As such, it is ...
  • Jain, Payal, 1986-; Ballaré, Cecilia Julia; Blanco, Enrique; Vizán, Pedro; Di Croce, Luciano (eLife, 2020)
    The Polycomb-like protein PHF19/PCL3 associates with PRC2 and mediates its recruitment to chromatin in embryonic stem cells. PHF19 is also overexpressed in many cancers. However, neither PHF19 targets nor misregulated ...
  • Criscuolo, Daniela; Avolio, Rosario; Calice, Giovanni; Laezza, Chiara; Paladino, Simona; Navarra, Giovanna; Maddalena, Francesca; Crispo, Fabiana; Pagano, Cristina; Bifulco, Maurizio; Landriscina, Matteo; Matassa, Danilo Swann; Esposito, Franca (MDPI, 2020)
    Despite initial chemotherapy response, ovarian cancer is the deadliest gynecologic cancer, due to frequent relapse and onset of drug resistance. To date, there is no affordable diagnostic/prognostic biomarker for early ...
  • Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz (Lippincott Williams & Wilkins, 2020)
    OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome ...
  • Gil-Varea, Elia; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (MDPI, 2020)
    Genome-wide association studies and meta-analysis have contributed to the identification of more than 200 loci associated with multiple sclerosis (MS). However, a proportion of MS heritability remains unknown. We aimed to ...
  • Castellano Esteve, David; Munch, Kasper (Humana Press (Springer Imprint), 2020)
    The great apes play an important role as model organisms. They are our closest living relatives, allowing us to identify the genetic basis of phenotypic traits that we think of as characteristically human. However, the ...
  • Batlle Masó, Laura; Mensa Vilaró, Anna; Solís Moruno, Manuel; Marquès i Bonet, Tomàs, 1975-; Aróstegui, Juan Ignacio; Casals López, Ferran (Elsevier, 2020)
    Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the ...
  • Kalisz, Mark; Bernardo, Edgar; Maestro, Miguel Ángel; Grau, Vanessa; Real, Francisco X.; Ferrer, Jorge (EMBO Press, 2020)
    Defects in transcriptional regulators of pancreatic exocrine differentiation have been implicated in pancreatic tumorigenesis, but the molecular mechanisms are poorly understood. The locus encoding the transcription factor ...
  • Capponi, Simona; Stöffler, Nadja; Irimia, Manuel; Van Schaik, Frederik M.A.; Ondik, Mercedes M.; Biniossek, Martin L.; Lehmann, Lisa; Mitschke, Julia; Vermunt, Marit W.; Creygthon, Menno P.; Graybiel, Ann M.; Reinheckel, Thomas; Schilling, Oliver; Blencowe, Benjamin J.; Crittenden, Jill R.; Timmers, Marc (Taylor & Francis, 2020)
    Neuronal microexons represent the most highly conserved class of alternative splicing events and their timed expression shapes neuronal biology, including neuronal commitment and differentiation. The six-nt microexon 34' ...

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