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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

  • Vara, Covadonga; Paytuví Gallart, Andreu; Cuartero, Yasmina; Álvarez-González, Lucía; Marín-Gual, Laia; Garcia, Francisca; Florit-Sabater, Beatriu; Capilla, Laia; Sanchéz-Guillén, Rosa Ana; Sarrate, Zaida; Cigliano, Riccardo Aiese; Sanseverino, Walter; Searle, Jeremy B.; Ventura, Jacint; Martí Renom, Marc A.; Le Dily, François; Ruiz Herrera, Aurora (Nature Research, 2021)
    The spatial folding of chromosomes inside the nucleus has regulatory effects on gene expression, yet the impact of genome reshuffling on this organization remains unclear. Here, we take advantage of chromosome conformation ...
  • Buitrago, Diana; Labrador, Mireia; Arcon, Juan Pablo; Lema, Rafael; Flores, Oscar; Esteve-Codina, Anna; Blanc, Julie; Villegas, Núria; Bellido, David; Gut, Marta; Dans, Pablo D.; Heath, Simon; Gut, Ivo Glynne; Brun-Heath, Isabelle; Orozco, Modesto (Nature Research, 2021)
    Determining the effect of DNA methylation on chromatin structure and function in higher organisms is challenging due to the extreme complexity of epigenetic regulation. We studied a simpler model system, budding yeast, ...
  • Willis, Jesse R.; Saus Martínez, Ester; Iraola Guzman, Susana; Cabello-Yeves, Elena; Ksiezopolska, Ewa; Cozzuto, Luca; Bejarano, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Blanco, Andrea; Puig-Sola, Anna; Broglio, Elisabetta; Carolis, Carlo; Ponomarenko, Julia; Hecht, Jochen; Gabaldón Estevan, Juan Antonio, 1973- (Taylor & Francis, 2021)
    Introduction: Cystic fibrosis (CF) is an autosomal genetic disease, associated with the production of excessively thick mucosa and with life-threatening chronic lung infections. The microbiota of the oral cavity can act ...
  • Bisceglie, Lavinia; Hopp, Ann-Katrin; Gunasekera, Kapila; Wright, Roni H.G.; Le Dily, François; Vidal, Enrique; Dall'Agnese, Alessandra; Caputo, Luca; Nicoletti, Chiara; Puri, Pier Lorenzo; Beato, Miguel; Hottiger, Michael O. (Elsevier, 2021)
    While protein ADP-ribosylation was reported to regulate differentiation and dedifferentiation, it has so far not been studied during transdifferentiation. Here, we found that MyoD-induced transdifferentiation of fibroblasts ...
  • Espeso Gil, Sergio, 1985-; Holik, Aliaksei Z.; Bonnin, Sarah; Jhanwar, Shalu, 1986-; Chandrasekaran, Sandhya; Pique Regi, Roger; Albaigès-Ràfols, Júlia; Maher, Michael; Permanyer, Jon; Irimia, Manuel; Friedländer, Marc R.; Pons Espinal, Meritxell, 1986-; Akbarian, Schahram; Dierssen, Mara; Maass, Philipp G.; Hor, Charlotte N.; Ossowski, Stephan (Frontiers, 2021)
    In early development, the environment triggers mnemonic epigenomic programs resulting in memory and learning experiences to confer cognitive phenotypes into adulthood. To uncover how environmental stimulation impacts the ...
  • Esteve-Codina, Anna; Soler Artigas, María; Dabad, Marc; Fernández Callejo, Marcos; Griebel, Thasso; Heath, Simon; Gut, Ivo Glynne; Ziegler-Heitbrock, Loems (Nature Research, 2021)
    Chronic obstructive pulmonary disease (COPD) is a destructive inflammatory disease and the genes expressed within the lung are crucial to its pathophysiology. We have determined the RNAseq transcriptome of bronchial brush ...
  • Guerrero-Cózar, Israel; Gómez-Garrido, Jèssica; Berbel, Concha; Martinez-Blanch, Juan F.; Alioto, Tyler; Claros, M. Gonzalo; Gagnaire, Pierre-Alexandre; Manchado, Manuel (Nature Research, 2021)
    The integration of physical and high-density genetic maps is a very useful approach to achieve chromosome-level genome assemblies. Here, the genome of a male Senegalese sole (Solea senegalensis) was de novo assembled and ...
  • Lang, Benjamin; Yang, Jae-Seong; Garriga-Canut, Mireia; Speroni, Silvia; Aschern, Moritz; Gili, Maria; Hoffmann, Tobias, 1990-; Tartaglia, Gian Gaetano; Maurer, Sebastian (Oxford University Press, 2021)
    RNA-binding proteins (RBPs) are crucial factors of post-transcriptional gene regulation and their modes of action are intensely investigated. At the center of attention are RNA motifs that guide where RBPs bind. However, ...
  • Wenninger, Stephan; Cumming, Sarah A.; Gutschmidt, Kristina; Okkersen, Kees; Jimenez-Moreno, Aura Cecilia; Daidj, Ferroudja; Lochmüller, Hanns; Hogarth, Fiona; Knoop, Hans; Bassez, Guillaume; Monckton, Darren G.; van Engelen, Baziel G.M.; Schoser, Benedikt (Wolters Kluwer (LWW), 2021)
    Objective: To assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention. ...
  • Bauer, Moritz, 1987-; Vidal, Enrique; Zorita, Eduard; Üresin, Nil; Pinter, Stefan F.; Filion, Guillaume; Payer, Bernhard, 1975- (Nature Research, 2021)
    A hallmark of chromosome organization is the partition into transcriptionally active A and repressed B compartments, and into topologically associating domains (TADs). Both structures were regarded to be absent from the ...
  • Guindo Martínez, Marta; Bonàs-Guarch, Silvia; Miguel Escalada, Irene; Torrents, David (Nature Research, 2021)
    Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputation. We ...
  • Calvera Isabal, Miriam; Santos Rodríguez, Patrícia; Hernández Leo, Davinia (CEUR Workshop Proceedings, 2021)
    This research will investigate the potential that Citizen Science (CS) projects data has in a formal educational context to learn. CS involves citizens in scientific research generating knowledge and scientific results. ...
  • Vivori, Claudia, 1989-; Papasaikas, Panagiotis; Stadhouders, Ralph; Di Stefano, Bruno, 1984-; Ribó Rubio, Anna; Berenguer, Clara; Generoso, Serena Francesca, 1988-; Mallol, Anna; Sardina, Jose Luis; Payer, Bernhard, 1975-; Graf, T. (Thomas); Valcárcel, J. (Juan) (BioMed Central, 2021)
    Background: Somatic cell reprogramming is the process that allows differentiated cells to revert to a pluripotent state. In contrast to the extensively studied rewiring of epigenetic and transcriptional programs required ...
  • Maini, Ilenia; Caraffi, Stefano G.; Peluso, Francesca; Valeri, Lara; Nicoli, Davide; Laurie, Steven, 1973-; Baldo, Chiara; Zuffardi, Orsetta; Garavelli, Livia (MDPI, 2021)
    Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome ...
  • Matalonga, Leslie; Hernández Ferrer, Carles; Piscia, Davide; Tonda, Raúl; Laurie, Steven, 1973-; Fernández Callejo, Marcos; Picó, Daniel; Garcia-Linares, Carles; Papakonstantinou Ntalis, Anastasios; Corvó, Alberto; Joshi, Ricky S.; Diez, Hector; Gut, Ivo Glynne; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and ...
  • Zurek, Birte; Laurie, Steven, 1973-; Beltran, Sergi; Solve-RD Consortium (Nature Research, 2021)
    For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 ...
  • Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas (Nature Research, 2021)
    TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been ...
  • Te Paske, Iris B.A.W.; Garcia-Pelaez, José; Sommer, Anna K.; Matalonga, Leslie; Starzynska, Teresa; Jakubowska, Anna; Solve-RD-GENTURIS group; van der Post, Rachel S.; Lubinski, Jan; Oliveira, Carla; Hoogerbrugge, Nicoline; de Voer, Richarda M. (Nature Research, 2021)
    Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification ...
  • de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Solve-RD SNV-indel working group; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Solve-RD-DITF-ITHACA; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E.L.M. (Nature Research, 2021)
    The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases ...
  • Mixão, Verónica; Hegedűsová, Eva; Saus Martínez, Ester; Pryszcz, Leszek Piotr, 1985-; Cillingová, Andrea; Nosek, Jozef; Gabaldón Estevan, Juan Antonio, 1973- (Oxford University Press, 2021)
    Candida subhashii belongs to the CUG-Ser clade, a group of phylogenetically closely related yeast species that includes some human opportunistic pathogens, such as Candida albicans. Despite being present in the environment, ...

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