• 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 ...
• Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

  McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)

  Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
• 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 ...
• Designing fully secure protocols for secure two-party computation of constant-domain functions

  Daza, Vanesa; Makriyannis, Nikolaos (Springer, 2017)

  In a sense, a two-party protocol achieves fairness if the output from the computation is obtained simultaneously by both parties. A seminal result by Cleve (STOC 1986) states that fairness is impossible, in general. ...
• Altered subcortical emotional salience processing differentiates parkinson's patients with and without psychotic symptoms

  Knolle, Franziska; Garofalo, S.; Viviani, R.; Justicia Díaz, Azucena; Ermakova, Anna O.; Blank, H.; Williams, G.B.; Arrondo, G.; Ramachandra, P.; Tudor-Sfetea, C.; Tudor-Sfetea, C.; Bunzeck, Nico; Düzel, Emrah; Robbins, T.W.; Barker, R.A.; Murray, Graham K. (Elsevier, 2020)

  Objective: Current research does not provide a clear explanation for why some patients with Parkinson's Disease (PD) develop psychotic symptoms. The 'aberrant salience hypothesis' of psychosis has been influential and ...
• Psychiatry in the aftermath of COVID-19

  Vieta, Eduard; Pérez Solá, Victor; Arango, Celso (Elsevier, 2020)
• 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 ...
• Transcriptional activation during cell reprogramming correlates with the formation of 3D open chromatin hubs

  Di Stefano, Marco; Stadhouders, Ralph; Farabella, Irene; Castillo Andreo, David; Serra, François; Graf, T. (Thomas); Marti-Renom, Marc A. (Nature Research, 2020)

  Chromosome structure is a crucial regulatory factor for a wide range of nuclear processes. Chromosome conformation capture (3C)-based experiments combined with computational modelling are pivotal for unveiling 3D chromosome ...
• 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. ...
• The persistent influence of viewing environment illumination color on displayed image appearance

  Canham, Trevor; Bertalmío, Marcelo (2020)

  Chromatic adaptation considering competing influences from emissive displays and ambient illumination is a little studied topic in the context of color management in proportion to its influence on displayed image appearance. ...
• A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

  Lim, Albert Z.; McMacken, Grace M.; Rastelli, Francesca; Oláhová, Monika; Baty, Karen; Hopton, Sila; Falkous, Gavin; Töpf, Ana; Lochmüller, Hanns; Marini-Bettolo, Chiara; McFarland, Robert; Taylor, Robert W. (Elsevier, 2020)

  Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNATyr, ...
• 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 ...
• Adherence to the mediterranean lifestyle and desired body weight loss in a mediterranean adult population with overweight: a PREDIMED-Plus Study

  Bouzas, Cristina; Zomeño Fajardo, Maria Dolores; Muñoz, Julia; Castañer, Olga; Goday Arno, Alberto; Tur, J. Antoni (MDPI, 2020)

  Background: Body weight dissatisfaction is a hindrance to following a healthy lifestyle and it has been associated with weight concerns. Objectives: The aim of this study was to assess the association between the adherence ...
• Association between the potential influence of a lifestyle intervention in older individuals with excess weight and metabolic syndrome on untreated household cohabitants and their family support: the PREDIMED-Plus Study

  Basora, Josep; Villalobos, Felipe; Pallejà-Millán, Meritxell; Babio, Nancy; Goday Arno, Alberto; Castañer, Olga; Fitó Colomer, Montserrat; Zomeño Fajardo, Maria Dolores; Pintó Sala, Xavier; Sacanella, Emilio; Paz-Graniel, Indira; Salas Salvadó, Jordi (MDPI, 2020)

  This cross-sectional study aims to evaluate the association between the PREDIMED-Plus study lifestyle intervention and (i) adherence to the Mediterranean diet (MedDiet) and (ii) physical activity of cohabiting study ...
• 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 ...
• Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs correlate with corticosteroid response in duchenne muscular dystrophy

  Passarelli, Chiara; Lochmüller, Hanns; Ferlini, Alessandra (Frontiers, 2020)

  Background: Duchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with ...

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