• DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies

  Faure, Andre J.; Schmiedel, Jörn M.; Baeza Centurión, Pablo, 1989-; Lehner, Ben, 1978- (BioMed Central, 2020)

  Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an ...
• Positive selection in admixed populations from Ethiopia

  Walsh Capdevila, Sandra, 1991-; Pagani, Luca; Xue, Yali; Laayouni, Hafid, 1968-; Tyler-Smith, Chris; Bertranpetit, Jaume, 1952- (BioMed Central, 2020)

  Background: In the process of adaptation of humans to their environment, positive or adaptive selection has played a main role. Positive selection has, however, been under-studied in African populations, despite their ...
• The shaping of immunological responses through natural selection after the Roma Diaspora

  Dobón Berenguer, Begoña, 1987-; Ter Horst, Rob; Laayouni, Hafid, 1968-; Mondal, Mayukh, 1989-; Bianco, Erica; Comas, David, 1969-; Ioana, Mihai; Bosch Fusté, Elena; Bertranpetit, Jaume, 1952-; Netea, Mihai G (Nature Research, 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 ...
• Case report: benign infantile seizures temporally associated with COVID-19

  García Howard, Marcos; Herranz Aguirre, Mercedes; Moreno Galarraga, Laura; Urretavizcaya Martínez, María; Alegría Echauri, Josune; Gorría Redondo, Nerea; Planas Serra, Laura; Schlüter, Agatha; Gut, Marta; Pujol, Aurora, 1968-; Aguilera Albesa, Sergio (Frontiers, 2020)

  Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a ...
• The penile microbiota in uncircumcised and circumcised men: relationships with HIV and human papillomavirus infections and cervicovaginal microbiota

  Onywera, Harris; Williamson, Anna-Lise; Ponomarenko, Julia; Meiring, Tracy L. (Frontiers, 2020)

  While the human microbiota especially that of the gut, cervix, and vagina continue to receive great attention, very little is currently known about the penile (glans, coronal sulcus, foreskin, and shaft) microbiota. The ...
• Alternative enhancer usage and targeted polycomb marking hallmark promoter choice during T cell differentiation

  Maqbool, Muhammad Ahmad; Pioger, Léo; El Aabidine, Amal Zine; Karasu, Nezih; Molitor, Anne Marie; Dao, Lan T.M.; Charbonnier, Guillaume; van Laethem, François; Fenouil, Romain; Koch, Frederic; Lacaud, Georges; Gut, Ivo Glynne; Gut, Marta; Amigorena, Sebastian; Joffre, Olivier; Sexton, Thomas; Spicuglia, Salvatore; Andrau, Jean-Christophe (Elsevier, 2020)

  During thymic development and upon peripheral activation, T cells undergo extensive phenotypic and functional changes coordinated by lineage-specific developmental programs. To characterize the regulatory landscape controlling ...
• In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children

  Vives Usano, Marta, 1990-; Hernández-Ferrer, Carles; Maitre, Léa; Ruiz Arenas, Carlos, 1990-; Borràs, Eva; Casas Sanahuja, Maribel; Estivill, Xavier, 1955-; González, Juan Ramón; Sabidó Aguadé, Eduard, 1981-; Vrijheid, Martine; Bustamante Pineda, Mariona (BioMed Central, 2020)

  Background: The adverse health effects of early life exposure to tobacco smoking have been widely reported. In spite of this, the underlying molecular mechanisms of in utero and postnatal exposure to tobacco smoke are only ...
• Zooming in on protein-RNA interactions: a multi-level workflow to identify interaction partners

  Colantoni, Alessio; Rupert, Jakob; Vandelli, Andrea; Tartaglia, Gian Gaetano; Zacco, Elsa (Portland Press, 2020)

  Interactions between proteins and RNA are at the base of numerous cellular regulatory and functional phenomena. The investigation of the biological relevance of non-coding RNAs has led to the identification of numerous ...
• 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 ...

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