• Severe autoinflammatory manifestations and antibody deficiency due to novel hypermorphic PLCG2 mutations Martín-Nalda, Andrea; Casals López, Ferran; Gimeno, Ramon; Pujol Vallverdú, Ramon Maria; Aróstegui, Juan Ignacio

  Martín-Nalda, Andrea; Casals López, Ferran; Gimeno, Ramon; Pujol Vallverdú, Ramon Maria; Aróstegui, Juan Ignacio (SpringerOpen, 2020)

  Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded ...
• Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples

  Esteller-Cucala, Paula; Maceda, Iago; Børglum, Anders D.; Demontis, Ditte; Faraone, Stephen V.; Cormand, Bru; Lao Grueso, Oscar, 1976- (Nature Research, 2020)

  Attention-deficit/hyperactivity disorder (ADHD) is an impairing neurodevelopmental condition highly prevalent in current populations. Several hypotheses have been proposed to explain this paradox, mainly in the context of ...
• The embryonic linker histone dBigH1 alters the functional state of active chromatin

  Climent-Cantó, Paula; Carbonell, Albert; Tatarski, Milos; Reina García, Óscar, 1976-; Bujosa, Paula; Font Mateu, Jofre, 1977-; Bernués, Jordi; Beato, Miguel; Azorín Marín, Fernando (Oxford University Press (OUP), 2020)

  Linker histones H1 are principal chromatin components, whose contribution to the epigenetic regulation of chromatin structure and function is not fully understood. In metazoa, specific linker histones are expressed in the ...
• Genomic adaptations to aquatic and aerial life in mayflies and the origin of insect wings

  Almudí, Isabel; Wyatt, Christopher Douglas Robert, 1988-; Cruz, Fernando; Gómez-Garrido, Jèssica; Gut, Marta; Alioto, Tyler; Irimia, Manuel; Casares, Fernando (Nature Research, 2020)

  The evolution of winged insects revolutionized terrestrial ecosystems and led to the largest animal radiation on Earth. However, we still have an incomplete picture of the genomic changes that underlay this diversification. ...
• β-Catenin safeguards the ground state of mousepluripotency by strengthening the robustness of the transcriptional apparatus

  Zhang, Meng; Arumugam, Karthik; Di Vicino, Umberto; Cosma, Maria Pia, 1970-; Esteban, Miguel A. (American Association for the Advancement of Science (AAAS), 2020)

  Mouse embryonic stem cells cultured with MEK (mitogen-activated protein kinase kinase) and GSK3 (glycogen synthase kinase 3) inhibitors (2i) more closely resemble the inner cell mass of preimplantation blastocysts than ...
• SirT7 auto-ADP-ribosylation regulates glucose starvation response through mH2A1

  Simonet, Nicolás G.; Thackray, Joshua K.; Vázquez, Berta N.; Ianni, Alessandro; Espinosa Alcantud, Maria; Morales Sanfrutos, Julia; Hurtado-Bagès, Sarah, 1990-; Sabidó Aguadé, Eduard, 1981-; Buschbeck, Marcus; Tischfield, Jay; Torre, Carolina de la; Esteller, Manel; Braun, Thomas; Olivella, Mireia; Serrano, Lourdes; Vaquero, Alejandro (American Association for the Advancement of Science (AAAS), 2020)

  Sirtuins are key players of metabolic stress response. Originally described as deacetylases, some sirtuins also exhibit poorly understood mono-adenosine 5'-diphosphate (ADP)-ribosyltransferase (mADPRT) activity. We report ...
• Social participation in science: Perspectives of Spanish civil society organizations

  Llorente, Carolina; Revuelta, Gema; Carrió, Mar (SAGE Publications, 2020)

  There is a general trend toward more active, broader, and more inclusive participation of different stakeholders in science. Civil society organizations' inclusion in the scientific process is being promoted. However, there ...
• Germline de novo mutation rates on exons versus introns in humans

  Rodríguez Galindo, Miguel; Casillas, Sònia; Weghorn, Donate; Barbadilla, Antonio (Nature Research, 2020)

  A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared ...
• Aging-dependent genetic effects associated to ADHD predict longitudinal changes of ventricular volumes in adulthood

  Vilor Tejedor, Natàlia, 1988-; Ikram, Mohammad Arfan; Roshchupkin, Gennady V.; Vinke, Elisabeth J.; Vernooij, Meike W.; Adams, Hieab H. (Frontiers, 2020)

  Background: Attention-Deficit/Hyperactivity Disorder (ADHD) is a childhood-onset disorder that can persist into adult life. Most genetic studies have focused on investigating biological mechanisms of ADHD during childhood. ...
• Bacillus firmus strain I-1582, a nematode antagonist by itself and through the plant

  Ghahremani, Zahra; Escudero, Nuria; Beltrán Anadón, Daniel; Saus Martínez, Ester; Cunquero, Marina; Andilla, Jordi; Loza-Alvarez, Pablo; Gabaldón Estevan, Juan Antonio, 1973-; Sorribas, F. Javier (Frontiers, 2020)

  Bacillus firmus I-1582 is approved in Europe for the management of Meloidogyne on vegetable crops. However, little information about its modes of action and temperature requirements is available, despite the effect of these ...
• Satellite cells and markers of muscle regeneration during unloading and reloading: effects of treatment with resveratrol and curcumin

  Mañas-García, Laura; Guitart, Maria; Duran Jordà, Xavier, 1974-; Barreiro Portela, Esther (MDPI, 2020)

  We hypothesized that treatment with pharmacological agents known to increase sirtuin-1 activity (resveratrol and curcumin) may enhance muscle regeneration. In limb muscles of mice (C57BL/6J, 10 weeks) exposed to reloading ...
• Down syndrome is a metabolic disease: altered insulin signaling mediates peripheral and brain dysfunctions

  Dierssen, Mara; Fructuoso, Marta; Martínez de Lagrán Cabredo, María; Perluigi, Marzia; Barone, Eugenio (Frontiers, 2020)

  Down syndrome (DS) is the most frequent chromosomal abnormality that causes intellectual disability, resulting from the presence of an extra complete or segment of chromosome 21 (HSA21). In addition, trisomy of HSA21 ...
• Calibrating seed-based heuristics to map short reads with sesame

  Filion, Guillaume; Cortini, Ruggero; Zorita, Eduard (Frontiers, 2020)

  The increasing throughput of DNA sequencing technologies creates a need for faster algorithms. The fate of most reads is to be mapped to a reference sequence, typically a genome. Modern mappers rely on heuristics to gain ...
• Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy

  Martone, Julie; Lisi, Michela; Castagnetti, Francesco; Rosa, Alessandro; Di Carlo, Valerio; Blanco, Enrique; Setti, Adriano; Mariani, Davide; Colantoni, Alessio; Santini, Tiziana; Perone, Lucia; Di Croce, Luciano; Bozzoni, Irene (UNLISTED PUBLISHER, 2020)

  Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools. Here, we ...
• IL18 signaling promotes homing of mature Tregs into the thymus

  Peligero Cruz, Cristina, 1986-; Givony, Tal; Sebé-Pedrós, Arnau; Dobeš, Jan; Kadouri, Noam; Nevo, Shir; Roncato, Francesco; Alon, Ronen; Goldfarb, Yael; Abramson, Jakub (eLife, 2020)

  Foxp3+ regulatory T cells (Tregs) are potent suppressor cells, essential for the maintenance of immune homeostasis. Most Tregs develop in the thymus and are then released into the immune periphery. However, some Tregs ...
• Impact of C-terminal amino acid composition on protein expression in bacteria

  Weber, Marc; Burgos, Raul; Yus, Eva; Yang, Jae-Seong; Lluch-Senar, Maria 1982-; Serrano Pubull, Luis, 1982- (EMBO Press, 2020)

  The C-terminal sequence of a protein is involved in processes such as efficiency of translation termination and protein degradation. However, the general relationship between features of this C-terminal sequence and levels ...
• Ancient genomic regulatory blocks are a source for regulatory gene deserts in vertebrates after whole-genome duplications

  Touceda-Suárez, María; Kita, Elizabeth M.; Acemel, Rafael D.; Firbas, Panos N.; Magri, Marta S.; Naranjo, Silvia; Tena, Juan J.; Gómez Skarmeta, José Luis; Maeso, Ignacio; Irimia, Manuel (Oxford University Press (OUP), 2020)

  We investigated how the two rounds of whole-genome duplication that occurred at the base of the vertebrate lineage have impacted ancient microsyntenic associations involving developmental regulators (known as genomic ...
• Selection following gene duplication shapes recent genome evolution in the pea aphid acyrthosiphon pisum

  Fernández, Rosa; Marcet Houben, Marina; Legeai, Fabrice; Richard, Gautier; Robin, Stéphanie; Wucher, Valentin; Pegueroles Queralt, Maria Cinta; Gabaldón Estevan, Juan Antonio, 1973-; Tagu, Denis (Oxford University Press (OUP), 2020)

  Ecology of insects is as wide as their diversity, which reflects their high capacity of adaptation in most of the environments of our planet. Aphids, with over 4,000 species, have developed a series of adaptations including ...
• Identification of enhancer-promoter contacts in embryoid bodies by quantitative chromosome conformation capture (4C)

  Tian, Tian V.; Vidal Ocabo, Enrique; Graf, T. (Thomas); Stik, Grégoire (MyJove Corporation, 2020)

  During mammalian development, cell fates are determined through the establishment of regulatory networks that define the specificity, timing, and spatial patterns of gene expression. Embryoid bodies (EBs) derived from ...
• Pseudo-RNA-binding domains mediate RNA structure specificity in upstream of N-Ras

  Hollmann, Nele Merret; Jagtap, Pravin Kumar Ankush; Masiewicz, Pawel; Guitart, Tanit; Simon, Bernd; Provaznik, Jan; Stein, Frank; Haberkant, Per; Sweetapple, Lara Jayne; Villacorta, Laura; Mooijman, Dylan; Benes, Vladimir; Savitski, Mikhail M.; Gebauer, Fátima; Hennig, Janosch (Elsevier, 2020)

  RNA-binding proteins (RBPs) commonly feature multiple RNA-binding domains (RBDs), which provide these proteins with a modular architecture. Accumulating evidence supports that RBP architectural modularity and adaptability ...

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