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Browsing Articles (Center for Genomic Regulation (CRG)) by Title

Browsing Articles (Center for Genomic Regulation (CRG)) by Title

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  • Pryszcz, Leszek Piotr, 1985-; Novoa, Eva Maria (Oxford University Press, 2022)
    Motivation: DNA and RNA modifications can now be identified using Nanopore sequencing. However, we currently lack a flexible software to efficiently encode, store, analyze and visualize DNA and RNA modification data. ...
  • Verd Fernández, Berta, 1984-; Monk, Nicholas A.; Jaeger, Johannes, 1973- (eLife, 2019)
    The existence of discrete phenotypic traits suggests that the complex regulatory processes which produce them are functionally modular. These processes are usually represented by networks. Only modular networks can be ...
  • O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (MDPI, 2019)
    Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the ...
  • Avolio, Rosario; Matassa, Danilo Swann; Criscuolo, Daniela; Landriscina, Matteo; Esposito, Franca (MDPI, 2020)
    Metabolic reprogramming, carried out by cancer cells to rapidly adapt to stress such as hypoxia and limited nutrient conditions, is an emerging concepts in tumor biology, and is now recognized as one of the hallmarks of ...
  • Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns (Frontiers Media, 2020)
    Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early ...
  • Reymond, Loïc; Huser, Thomas; Ruprecht, Verena; Wieser, Stefan (IOP Publishing Ltd., 2020)
    Super-resolution fluorescence microscopy has become a powerful tool in cell biology to observe sub-cellular organization and molecular details below the diffraction limit of light. Super-resolution methods are generally ...
  • Smith, Martin A.; Ersavas, Tansel; Ferguson, James M.; Liu, Huanle; Lucas, Morghan C.; Begik, Oguzhan; Bojarski, Lilly; Barton, Kirston; Novoa, Eva Maria (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    Nanopore sequencing enables direct measurement of RNA molecules without conversion to cDNA, thus opening the gates to a new era for RNA biology. However, the lack of molecular barcoding of direct RNA nanopore sequencing ...
  • Vigevani, Luisa, 1985-; Gohr, André; Webb, Thomas R.; Irimia Martínez, Manuel; Valcárcel, J. (Juan) (Nature Publishing Group, 2017)
    Several splicing-modulating compounds, including Sudemycins and Spliceostatin A, display anti-tumor properties. Combining transcriptome, bioinformatic and mutagenesis analyses, we delineate sequence determinants of the ...
  • Morgan, Claire C.; Hart, Michael W. (BioMed Central, 2019)
    Background: Genes that encode proteins associated with sperm competition, fertilization, and sexual conflicts of interest are often among the most rapidly evolving parts of animal genomes. One family of sperm-expressed ...
  • Irazoki, Oihane; Aranda, Jesús; Zimmermann, Timo; Campoy, Susana; Barbé, Jordi (Frontiers, 2016)
    In addition to its role in DNA damage repair and recombination, the RecA protein, through its interaction with CheW, is involved in swarming motility, a form of flagella-dependent movement across surfaces. In order to ...
  • Botta Orfila, Teresa; Tartaglia, Gian Gaetano; Michalon, Aubin (Springer, 2016)
    Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder manifesting in carriers of 55 to 200 CGG repeats in the 5' untranslated region (UTR) of the fragile X mental retardation gene ...
  • Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas (Wiley, 2021)
    Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, ...
  • Albuixech Crespo, Beatriz; López Blanch, Laura; Burguera, Demián; Maeso, Ignacio; Sánchez Arrones, Luisa; Moreno Bravo, Juan Antonio; Somorjai, Ildikó Maureen Lara; Pascual Anaya, Juan; Puelles, Eduardo; Bovolenta, Paola; García Fernàndez, Jordi; Puelles, Luis; Irimia Martínez, Manuel; Ferrán, José Luis E. (Public Library of Science (PLoS), 2017)
    All vertebrate brains develop following a common Bauplan defined by anteroposterior (AP) and dorsoventral (DV) subdivisions, characterized by largely conserved differential expression of gene markers. However, it is still ...
  • Gu, Yuchen; Moroy, Gautier; Paul, Jean-Louis; Rebillat, Anne-Sophie; Dierssen, Mara; Torre Fornell, Rafael de la; Cieuta-Walti, Cécile; Dairou, Julien; Janel, Nathalie (MDPI, 2020)
    Epigallocatechin gallate (EGCG) is an inhibitor of DYRK1A, a serine/threonine kinase considered to be a major contributor of cognitive dysfunctions in Down syndrome (DS). Two clinical trials in adult patients with DS have ...
  • Taylor, Benjamin A.; Taylor, Daisy; Bodrug-Schepers, Alexandrina; Câmara Ferreira, Francisco; Stralis-Pavese, Nancy; Himmelbauer, Heinz; Guigó Serra, Roderic; Reuter, Max; Sumner, Seirian (Wiley, 2024)
    Social insect reproductives and non-reproductives represent ideal models with which to understand the expression and regulation of alternative phenotypes. Most research in this area has focused on the developmental regulation ...
  • Solenn, Patalano; Vlasova, Anna; Wyatt, Christopher Douglas Robert, 1988-; Cámara, Francisco; Pedro G., Ferreira; González, Irene; Minoche, André E.; Lowy Gallego, Ernesto; Marcet Houben, Marina; Rodríguez Ales, José Luis; Gabaldón Estevan, Juan Antonio, 1973-; Himmelbauer, Heinz; Guigó Serra, Roderic; Sumner, Seirian (National Academy of Sciences, 2015)
    Phenotypic plasticity is important in adaptation and shapes the evolution of organisms. However, we understand little about what aspects of the genome are important in facilitating plasticity. Eusocial insect societies ...
  • Nater, Alexander; Mattle-Greminger, Maja P.; Nurcahyo, Anton; Novak, Matthew G.; de Manuel, Marc; Desai, Tariq; Groves, Colin; Pybus Oliveras, Marc, 1985-; Sonay, Tugce Bilgin; Roos, Christian; Lameira, Adriano R.; Wich, Serge A.; Askew, James; Davila-Ross, Marina; Fredriksson, Gabriella; de Valles-Ibáñez, Guillem; Casals López, Ferran; Prado Martínez, Javier, 1987-; Goossens, Benoit; Verschoor, Ernst J.; Warren, Kristin S.; Singleton, Ian; Marques, David A.; Pamungkas, Joko; Perwitasari-Farajallah, Dyah; Rianti, Puji; Tuuga, Augustine; Gut, Ivo Glynne; Gut, Marta; Orozco-terWengel, Pablo; Van Schaik, Carel P.; Bertranpetit, Jaume, 1952-; Anisimova, Maria; Scally, Aylwyn; Marquès i Bonet, Tomàs, 1975-; Meijaard, Erik; Krützen, Michael (Elsevier, 2017)
    Six extant species of non-human great apes are currently recognized: Sumatran and Bornean orangutans, eastern and western gorillas, and chimpanzees and bonobos [1]. However, large gaps remain in our knowledge of fine-scale ...
  • Braun, Tzipi; Ferrer, Jorge; Haberman, Yael (American Society for Clinical Investigation, 2023)
    Ulcerative colitis (UC), Crohn's disease (CD), and celiac disease are prevalent intestinal inflammatory disorders with nonsatisfactory therapeutic interventions. Analyzing patient data-driven cohorts can highlight disease ...
  • Cho, Ara; Shim, Jung; Kim, Eiru; Supek, Fran; Lehner, Ben, 1978-; Lee, Insuk (BioMed Central, 2016)
    A major challenge for distinguishing cancer-causing driver mutations from inconsequential passenger mutations is the long-tail of infrequently mutated genes in cancer genomes. Here, we present and evaluate a method for ...
  • Paternoster, Lavinia; Gonzalez, Juan Ramon; Bustamante Pineda, Mariona; Tejedor, Elisabeth; Sunyer Deu, Jordi; Weidinger, Stephan (Nature Research, 2015)
    Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, ...

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