Articles (Center for Genomic Regulation (CRG))

 

Recent Submissions

  • Baclaocos, Janinah; Santesmasses Ruiz, Didac, 1978-; Mariotti, Marco, 1984-; Bierla, Katarzyna; Vetick, Michael B.; Lynch, Sharon; McAllen, Rob; Mackrill, John J.; Loughran, Gary; Guigó Serra, Roderic; Szpunar, Joanna; Copeland, Paul R.; Gladyshev, Vadim N.; Atkins, John F. (Elsevier, 2019)
    Selenoproteins typically contain a single selenocysteine, the 21st amino acid, encoded by a context-redefined UGA. However, human selenoprotein P (SelenoP) has a redox-functioning selenocysteine in its N-terminal domain ...
  • Fructuoso, Marta; Espinosa-Carrasco, José; Erb, Ionas; Notredame, Cedric; Dierssen, Mara (Bio-protocol, 2019)
    Obesity is an important health problem with a strong environmental component that is acquiring pandemic proportion. The high availability of caloric dense foods promotes overeating potentially causing obesity. Animal models ...
  • Garrido, Romina; Trowbridge, Casandra A.; Tamura, Nana (Public Library of Science (PLoS), 2019)
  • Wright, Roni H.G.; Le Dily, François; Beato, Miguel (Elsevier, 2019)
    Misregulation of the processes controlling eukaryotic gene expression can result in disease. Gene expression is influenced by the surrounding chromatin; hence the nuclear environment is also of vital importance. Recently, ...
  • Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)
    Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
  • Escobar-Niño, Almudena; Liñeiro, Eva; Amil, Francisco; Carrasco, Rafael; Chiva, Cristina; Fuentes, Carlos; Blanco-Ulate, Barbara; Cantoral Fernández, Jesús M.; Sabidó Aguadé, Eduard, 1981-; Fernández-Acero, Francisco Javier (Nature Research, 2019)
    Protein phosphorylation and membrane proteins play an important role in the infection of plants by phytopathogenic fungi, given their involvement in signal transduction cascades. Botrytis cinerea is a well-studied necrotrophic ...
  • Laumer, Christopher E.; Fernández, Rosa; Lemer, Sarah; Combosch, David; Kocot, Kevin M.; Riesgo, Ana; Andrade, Sónia C. S.; Sterrer, Wolfgang; Sørensen, Martin V.; Giribet, Gonzalo (Royal Society, 2019)
    Proper biological interpretation of a phylogeny can sometimes hinge on the placement of key taxa-or fail when such key taxa are not sampled. In this light, we here present the first attempt to investigate (though not ...
  • Espinosa-Carrasco, José; Hermoso Pulido, Antonio; Erb, Ionas; Dierssen, Mara; Ponomarenko, Julia; Notredame, Cedric (Oxford University Press, 2019)
    We present a new web application to query and visualize time-series behavioral data: the Pergola web-server. This server provides a user-friendly interface for exploring longitudinal behavioral data taking advantage of the ...
  • Arranz, Juan; Balducci, Elisa, 1981-; Arató, Krisztina, 1981-; Sánchez-Elexpuru, Gentzane; Najas Sales, Sònia, 1985-; Parras, Alberto; Rebollo, Elena; Pijuan, Isabel; Erb, Ionas; Verde, Gaetano; Sahún, Ignasi; Barallobre, María José; Lucas, José J.; Sánchez, Marina P.; de la Luna, Susana; Arbonés de Rafael, Maria Lourdes, 1959- (Elsevier, 2019)
    Autism spectrum disorders are early onset neurodevelopmental disorders characterized by deficits in social communication and restricted repetitive behaviors, yet they are quite heterogeneous in terms of their genetic basis ...
  • Skvortsova, Ksenia; Tarbashevich, Katsiaryna; Stehling, Martin; Lister, Ryan; Irimia, Manuel; Raz, Erez; Bogdanovic, Ozren (Nature Research, 2019)
    Two waves of DNA methylation reprogramming occur during mammalian embryogenesis; during preimplantation development and during primordial germ cell (PGC) formation. However, it is currently unclear how evolutionarily ...
  • Sanchez de Groot, Natalia; Armaos, Alexandros; Graña-Montes, Ricardo; Alriquet, Marion; Calloni, Giulia; Vabulas, R. Martin; Tartaglia, Gian Gaetano (Nature Research, 2019)
    The combination of high-throughput sequencing and in vivo crosslinking approaches leads to the progressive uncovering of the complex interdependence between cellular transcriptome and proteome. Yet, the molecular determinants ...
  • McMacken, Grace M.; Spendiff, Sally; Whittaker, Roger G.; O'Connor, Emily; Howarth, Rachel M.; Boczonadi, Veronika; Horvath, Rita; Slater, Clarke R.; Lochmüller, Hanns (Oxford University Press, 2019)
    The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the ...
  • Hansen, Peter; Gargano, Michael; Hecht, Jochen; Ibn-Salem, Jonas; Karlebach, Guy; Roehr, Johannes T.; Robinson, Peter N. (MDPI, 2019)
    Hi-C, capture Hi-C (CHC) and Capture-C have contributed greatly to our present understanding of the three-dimensional organization of genomes in the context of transcriptional regulation by characterizing the roles of ...
  • Mosca, Elena; Cruz, Fernando; Gómez-Garrido, Jèssica; Gut, Marta; Alioto, Tyler; Neale, David D. (Genetics Society of America, 2019)
    Silver fir (Abies alba Mill.) is a keystone conifer of European montane forest ecosystems that has experienced large fluctuations in population size during during the Quaternary and, more recently, due to land-use change. ...
  • Fernández-Santiago, Ruben; Merkel, Angelika; Castellano, Giancarlo; Heath, Simon; Raya Chamorro, Ángel; Tolosa, Eduard; Martí, Maria José; Consiglio, Antonella; Ezquerra, Mario (BioMed Central, 2019)
    Background: Parkinson’s disease (PD) is characterized by the loss of midbrain dopaminergic neurons (DAn). Previously, we described the presence of DNA hyper- and hypo-methylation alterations in induced pluripotent stem ...
  • Vara, Covadonga; Paytuví Gallart, Andreu; Cuartero, Yasmina; Le Dily, François; Garcia, Francisca; Salvà-Castro, Judit; Gómez-H, Laura; Julià, Eva; Moutinho, Catia; Aiese Cigliano, Riccardo; Sanseverino, Walter; Fornas Carreño, Oscar; Pendás, Alberto M.; Heyn, Holger; Waters, Paul D.; Marti-Renom, Marc A.; Ruiz Herrera, Aurora (Elsevier, 2019)
    Mammalian gametogenesis involves dramatic and tightly regulated chromatin remodeling, whose regulatory pathways remain largely unexplored. Here, we generate a comprehensive high-resolution structural and functional atlas ...
  • 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 ...
  • Martín-Pardillos, Ana; Miravet Verde, Samuel; Serrano Pubull, Luis, 1982-; Lluch-Senar, Maria 1982-; Ramón y Cajal, Santiago (BioMed Central, 2019)
    Background: Cancer is a rapidly evolving, multifactorial disease that accumulates numerous genetic and epigenetic alterations. This results in molecular and phenotypic heterogeneity within the tumor, the complexity of which ...
  • Rodríguez Cruz, Pedro M.; Lochmüller, Hanns; Beeson, David (Oxford University Press, 2019)
    Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix ...
  • König, Kirsten; Pechmann, Astrid; Thiele, Simone; Walter, Maggie C.; Schorling, David; Tassoni, Adrian; Lochmüller, Hanns; Müller-Reible, Clemens; Kirschner, Janbernd (BioMed Central, 2019)
    Background: Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different ...

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