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Documents OpenAIRE (Open Access Infrastructure for Research in Europe)

Documents OpenAIRE (Open Access Infrastructure for Research in Europe)

 

Publicacions finançades pel Framework Programme 7 o l'European Research Council de la Unió Europea en el marc del Projecte OpenAIRE (Open Access Infraestructure for Research in Europe) que promou l'accés obert a Europa.

Recent Submissions

  • Mayer, Jürgen, 1977-; Robert Moreno, Alexandre; Sharpe, James; Swoger, Jim (Nature Research, 2018)
    Light sheet fluorescence microscopy (LSFM) is rapidly becoming an essential technology for mesoscopic imaging of samples such as embryos and adult mouse organs. However, LSFM can suffer from optical artifacts for which ...
  • Teixeira, Vítor; Martínez-Montañés, Fernando; Grippa, Alexandra, 1980-; Buxó, Laura; Idrissi, Fatima-Zahra; Ejsing, Christer S.; Carvalho, Pedro C. (Rockefeller University Press, 2018)
    Storage and consumption of neutral lipids in lipid droplets (LDs) are essential for energy homeostasis and tightly coupled to cellular metabolism. However, how metabolic cues are integrated in the life cycle of LDs is ...
  • Gabaldón Estevan, Juan Antonio, 1973- (Wiley, 2018)
    The origin of eukaryotes stands as a major open question in biology. Central to this question is the nature and timing of the origin of the mitochondrion, an ubiquitous eukaryotic organelle originated by the endosymbiosis ...
  • Espinosa-Carrasco, José; Erb, Ionas; Hermoso Pulido, Antonio; Ponomarenko, Julia; Dierssen, Mara; Notredame, Cedric (Elsevier, 2018)
    The growing appetite of behavioral neuroscience for automated data production is prompting the need for new computational standards allowing improved interoperability, reproducibility, and shareability. We show here how ...
  • Warrington, Nicole M.; Espinosa Díaz, Ana; Guxens Junyent, Mònica; Kogevinas, Manolis; Bustamante Pineda, Mariona; Lawlor, Debbie A. (Nature Research, 2018)
    Background: Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes ...
  • Le Dily, François; Beato, Miguel (MDPI, 2018)
    Initial studies showed that ligand-activated hormone receptors act by binding to the proximal promoters of individual target genes. Genome-wide studies have now revealed that regulation of transcription by steroid hormones ...
  • Kodra, Yllka; Lochmüller, Hanns; Taruscio, Domenica (MDPI, 2018)
    Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They ...
  • Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita (Oxford University Press, 2018)
    The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA ...
  • Issop, Yasmin; Hathazi, Denisa; Khan, Muzamil Majid; Rudolf, Rüdiger; Weis, Joachim; Spendiff, Sally; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (Oxford University Press, 2018)
    Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other ...
  • Zapata Ortiz, Luis, 1985-; Pich, Oriol; Serrano Pubull, Luis, 1982-; Kondrashov, Fyodor A., 1979-; Ossowski, Stephan; Schaefer, Martin H. (BioMed Central, 2018)
    Background: Natural selection shapes cancer genomes. Previous studies used signatures of positive selection to identify genes driving malignant transformation. However, the contribution of negative selection against somatic ...
  • Grau Bové, Xavier; Ruiz Trillo, Iñaki; Irimia, Manuel (BioMed Central, 2018)
    Background: Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes. While intron retention is believed to be the most prevalent mode ...
  • Ksiezopolska, Ewa; Gabaldón Estevan, Juan Antonio, 1973- (MDPI, 2018)
    Fungal infections, such as candidiasis caused by Candida, pose a problem of growing medical concern. In developed countries, the incidence of Candida infections is increasing due to the higher survival of susceptible ...
  • Delli Ponti, Riccardo, 1987-; Armaos, Alexandros; Marti, Stefanie; Tartaglia, Gian Gaetano (Frontiers, 2018)
    To compare the secondary structure profiles of RNA molecules we developed the CROSSalign method. CROSSalign is based on the combination of the Computational Recognition Of Secondary Structure (CROSS) algorithm to predict ...
  • González-Torres, Pedro; Gabaldón Estevan, Juan Antonio, 1973- (Frontiers, 2018)
    The halophilic bacterium Salinibacter ruber is an abundant and ecologically important member of halophilic communities worldwide. Given its broad distribution and high intraspecific genetic diversity, S. ruber is considered ...
  • Radusky, Leandro; Modenutti, Carlos; Delgado, Javier; Bustamante, Juan P.; Vishnopolska, Sebastian; Kiel, Christina; Serrano Pubull, Luis, 1982-; Marti, Marcelo; Turjanski, Adrián (Frontiers, 2018)
    Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. ...
  • Dominguez Del Angel, Victoria; Hjerde, Erik; Sterck, Lieven; Capella Gutiérrez, Salvador Jesús, 1985-; Notredame, Cedric; Vinnere Pettersson, Olga; Amselem, Joëlle; Bouri, Laurent; Bocs, Stephanie; Klopp, Christophe; Gibrat, Jean-François; Vlasova, Anna; Leskosek, Brane L.; Soler, Lucile; Binzer-Panchai, Mahesh; Lantz, Henrik (F1000Research, 2018)
    As a part of the ELIXIR-EXCELERATE efforts in capacity building, we present here 10 steps to facilitate researchers getting started in genome assembly and genome annotation. The guidelines given are broadly applicable, ...
  • Dyke, Stephanie O. M.; De Argila, Jordi Rambla; Flicek, Paul (Nature Research, 2018)
    The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of ...
  • Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium (Nature Research, 2018)
    Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship ...
  • Diss, Guillaume; Lehner, Ben, 1978- (eLife, 2018)
    A key question in human genetics and evolutionary biology is how mutations in different genes combine to alter phenotypes. Efforts to systematically map genetic interactions have mostly made use of gene deletions. However, ...
  • Martínez Abadías, Neus; Mateu-Estivill, Roger; Sastre-Tomas, Jaume; Motch Perrine, Susan; Yoon, Melissa; Robert Moreno, Alexandre; Swoger, Jim; Russo, Lucia; Kawasaki, Kazuhiko (eLife, 2018)
    The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene ...

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