• From single drug targets to synergistic network pharmacology in ischemic stroke

  Casas, Ana I.; Hassan, Ahmed; Larsen, Simon J.; Gomez-Rangel, Vanessa; Elbatreek, Mahmoud; Kleikers, Pamela W. M.; Guney, Emre; Egea, Javier; López, Manuela G.; Baumbach, Jan; Schmidt, Harald H.H.W. (National Academy of Sciences, 2019)

  Drug discovery faces an efficacy crisis to which ineffective mainly single-target and symptom-based rather than mechanistic approaches have contributed. We here explore a mechanism-based disease definition for network ...
• Advances and applications in the quest for orthologs

  Glover, Natasha; Dessimoz, Christophe; Ebersberger, Ingo; Forslund, Sofia K.; Gabaldón Estevan, Juan Antonio, 1973-; Huerta Cepas, Jaime; Martin, Maria-Jesus; Muffato, Matthieu; Patricio, Mateus; Pereira, Cecile; Sousa da Silva, Alan; Wang, Yan-Dong; Sonnhammer, Erik; Thomas, Paul D. (Oxford University Press, 2019)

  Gene families evolve by the processes of speciation (creating orthologs), gene duplication (paralogs), and horizontal gene transfer (xenologs), in addition to sequence divergence and gene loss. Orthologs in particular play ...
• Microbiome and colorectal cancer: Roles in carcinogenesis and clinical potential

  Saus Martínez, Ester; Iraola Guzman, Susana; Willis, Jesse R.; Brunet-Vega, Anna; Gabaldón Estevan, Juan Antonio, 1973- (Elsevier, 2019)

  The gastrointestinal tract harbors most of the microbiota associated with humans. In recent years, there has been a surge of interest in assessing the relationships between the gut microbiota and several gut alterations, ...
• Early smoking-onset age and risk of cardiovascular disease and mortality

  Fa-Binefa, Manel; Clarà Velasco, Alberto; Pérez-Fernández, Silvia; Grau Magaña, Maria; Dégano, Irene R.; Martí-Lluch, Ruth; Ramos, Rafel; Marrugat de la Iglesia, Jaume; Elosua Llanos, Roberto (Elsevier, 2019)

  Early smoking onset age (SOA) is a public health concern with scant empirical evidence of its role in health outcomes. The study had two aims: i) to assess whether an early SOA was associated with the risk of fatal and ...
• Microtubule nucleation during central spindle assembly requires NEDD1 phosphorylation on serine 405 by Aurora A

  Courthéoux, Thibault; Reboutier, David; Vazeille, Thibaut; Cremet, Jean-Yves; Benaud, Christelle; Vernos, Isabelle, 1959-; Prigent, Claude (Company of Biologists, 2019)

  During mitosis, the cell sequentially constructs two microtubule-based spindles to ensure faithful segregation of chromosomes. A bipolar spindle first pulls apart the sister chromatids, then a central spindle further ...
• Kinesin-8 and Dis1/TOG collaborate to limit spindle elongation from prophase to anaphase A for proper chromosome segregation in fission yeast

  Pinder, Corinne; Matsuo, Yuzy; Maurer, Sebastian; Toda, Takashi (Company of Biologists, 2019)

  High-fidelity chromosome segregation relies on proper microtubule regulation. Kinesin-8 has been shown to destabilise microtubules to reduce metaphase spindle length and chromosome movements in multiple species. XMAP215/chTOG ...
• Molecular rescue of Dyrk1A overexpression alterations in mice with Fontup® dietary supplement: role of green tea catechins

  Gu, Yuchen; Moroy, Gautier; Paul, Jean-Louis; Rebillat, Anne-Sophie; Dierssen, Mara; Torre Fornell, Rafael de la; Cieuta-Walti, Cécile; Dairou, Julien; Janel, Nathalie (MDPI, 2020)

  Epigallocatechin gallate (EGCG) is an inhibitor of DYRK1A, a serine/threonine kinase considered to be a major contributor of cognitive dysfunctions in Down syndrome (DS). Two clinical trials in adult patients with DS have ...
• Metagenomic analysis of a blood stain from the French revolutionary Jean-Paul Marat (1743-1793)

  de Dios, Toni; van Dorp, Lucy; Charlier, Philippe; Morfopoulou, Sofia; Lizano, Esther; Bon, Celine; Le Bitouzé, Corinne; Alvarez-Estape, Marina; Marquès i Bonet, Tomàs, 1975-; Balloux, François; Lalueza Fox, Carles, 1965- (Elsevier, 2020)

  The French revolutionary Jean-Paul Marat (1743-1793) was assassinated in 1793 in his bathtub, where he was trying to find relief from the debilitating skin disease he was suffering from. At the time of his death, Marat was ...
• Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis

  Pires Hartwig, Fernando; Dalmau Bueno, Albert; Guxens Junyent, Mònica; Bustamante Pineda, Mariona; Gomes Victora, Cesar (Oxford University Press, 2019)

  Background: Accumulating evidence suggests that breastfeeding benefits children’s intelligence, possibly due to long-chain polyunsaturated fatty acids (LC-PUFAs) present in breast milk. Under a nutritional adequacy hypothesis, ...
• Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human

  McCartney, Ann M.; Hyland, Edel M.; Cormican, Paul; Moran, Raymond J.; Webb, Andrew E.; Lee, Kate D.; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Creevey, Christopher J.; Aspden, Julie L.; McInerney, James O.; Marquès i Bonet, Tomàs, 1975-; O'Connell, Mary J. (Oxford University Press, 2019)

  Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail ...
• ScoreInvHap: inversion genotyping for genome-wide association studies

  Ruiz-Arenas, Carlos; Cáceres, Alejandro; López Sánchez, Marcos, 1986-; Tolosana, Ignacio; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS), 2019)

  Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP ...
• Contribution of trastuzumab to the prognostic improvement of HER2-positive early breast cancer in Spain: an estimation of life years and disease-free life years gained since its approval

  Ciruelos, Eva; Alba, Emilio; López, Rafael; Lluch, Ana; Martín, Miguel; Arroyo, Isabel; Navarro, Beatriz; Carcedo, David; Colomer, Ramon; Albanell Mestres, Joan (Impact Journals, 2019)

  Introduction: Trastuzumab has become the standard treatment for both HER2-positive early and metastatic breast cancer (HER2+ eBC or mBC) since its approval. The objective of the study is to estimate the benefit of adjuvant ...
• Gender differences in cancer risk after kidney transplantation

  Buxeda, Anna; Redondo Pachón, María Dolores; Pérez-Sáez, María José; Bartolomé, Álvaro; Mir Fontana, M. Luisa; Pascual-Dapena, Ana; Sans, Anna; Duran Jordà, Xavier, 1974-; Crespo Barrio, Marta; Pascual Santos, Julio (Impact Journals, 2019)

  Kidney transplant (KT) recipients are at greater risk of developing some cancers than the general population. Moreover, cancer is the only cause of death that is currently increasing after kidney transplantation. We analyzed ...
• The genome sequence of the eastern woodchuck (Marmota monax) - A preclinical animal model for chronic hepatitis B

  Alioto, Tyler; Cruz, Fernando; Gómez Garrido, Jèssica; Triyatni, Miriam; Gut, Marta; Frias, Leonor; Esteve-Codina, Anna; Menne, Stephan; Kiialainen, Anna; Kumpesa, Nadine; Birzele, Fabian; Schmucki, Roland; Gut, Ivo Glynne; Spleiss, Olivia (Genetics Society of America, 2019)

  The Eastern woodchuck (Marmota monax) has been extensively used in research of chronic hepatitis B and liver cancer because its infection with the woodchuck hepatitis virus closely resembles a human hepatitis B virus ...
• Genome assemblies of two rare opportunistic yeast pathogens: Diutina rugosa (syn. Candida rugosa) and Trichomonascus ciferrii (syn. Candida ciferrii)

  Mixão, Verónica; Saus Martínez, Ester; Perez Hansen, Antonio; Lass-Florl, Cornelia; Gabaldón Estevan, Juan Antonio, 1973- (Genetics Society of America, 2019)

  Infections caused by opportunistic yeast pathogens have increased over the last years. These infections can be originated by a large number of diverse yeast species of varying incidence, and with distinct clinically relevant ...
• Single molecule molecular inversion probes for high throughput germline screenings in dystonia

  Pogoda, Michaela; Hilke, Franz-Joachim; Lohmann, Ebba; Sturm, Marc; Lenz, Florian; Matthes, Jakob; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Hoischen, Alexander; Faust, Ulrike; Sepahi, Ilnaz; Casadei, Nicolas; Poths, Sven; Riess, Olaf; Schroeder, Christopher; Grundmann, Kathrin (Frontiers, 2019)

  Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. ...
• DYRK1A overexpression alters cognition and neural-related proteomic pathways in the hippocampus that are rescued by green tea extract and/or environmental enrichment

  De Toma, Ilario; Ortega Crespo, Mireia, 1988-; Aloy, Patrick, 1972-; Sabidó Aguadé, Eduard, 1981-; Dierssen, Mara (Frontiers, 2019)

  Down syndrome (DS), caused by trisomy of chromosome 21, is the most common genetic cause of intellectual disability. We recently discovered that green tea extracts containing epigallocatechin-3-gallate (EGCG) improve ...
• LOXL2-mediated H3K4 oxidation reduces chromatin accessibility in triple-negative breast cancer cells

  Cebrià i Costa, Joan Pau, 1989-; Pascual-Reguant, Laura; Gonzalez-Perez, Abel; Serra-Bardenys, Gemma; Querol, J.; Cosín, M.; Verde, Gaetano; Cigliano, R. A.; Sanseverino, Walter; Segura-Bayona, Sandra; Iturbide Martínez de Albéniz, Ane, 1989-; Andreu Martínez, David; Nuciforo, Paolo G.; Bernado-Morales, C.; Rodilla, Verónica; Arribas, Joaquín; Yelamos López, Jose; García de Herreros, Antonio; Stracker, Travis; Peiró Sales, Sandra (Nature Research, 2020)

  Oxidation of H3 at lysine 4 (H3K4ox) by lysyl oxidase-like 2 (LOXL2) generates an H3 modification with an unknown physiological function. We find that LOXL2 and H3K4ox are higher in triple-negative breast cancer (TNBC) ...
• Serum cytokine levels as predictive biomarkers of benefit from ipilimumab in small cell lung cancer

  Hardy-Werbin, Max; Rocha, Pedro P.; Arpí Llucià, Oriol; Taus García, Álvaro; Nonell Mazelón, Lara; Duran Jordà, Xavier, 1974-; Villanueva, Xavier; Joseph-Pietras, Deborah; Nolan, Luke; Danson, Sarah; Griffiths, Richard; López-Botet, M. (Miguel); Rovira Guerín, Ana; Albanell Mestres, Joan; Ottensmeier, Christian; Arriola Aperribay, Edurne (Taylor & Francis, 2019)

  Background. Immunotherapy has shown efficacy in small cell lung cancer (SCLC), but only a subset of patients benefits. Surrogate biomarkers are urgently needed. Our aim was to evaluate serum Th1, Th2, and proinflammatory ...
• Impact of chromosome fusions on 3D genome organization and gene expression in budding yeast

  Di Stefano, Marco; Di Giovanni, Francesca, 1985-; Pozharskaia, Vasilia; Gomar-Alba, Mercè; Baù, Davide; Carey, Lucas, 1980-; Marti-Renom, Marc A.; Mendoza, Manuel (Mendoza Palomares) (Genetics Society of America, 2020)

  The three-dimensional (3D) organization of chromosomes can influence transcription. However, the frequency and magnitude of these effects remain debated. To determine how changes in chromosome positioning affect transcription ...

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