• 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 ...
• Commercial formulates of trichoderma induce systemic plant resistance to meloidogyne incognita in tomato and the effect is additive to that of the Mi-1.2 resistance gene

  Pocurull, Miriam; Fullana, Aïda M.; Ferro, Miquel; Valero, Pau; Escudero, Nuria; Saus Martínez, Ester; Gabaldón Estevan, Juan Antonio, 1973-; Sorribas, F. Javier (Frontiers Media, 2020)

  Meloidogyne is the most damaging plant parasitic nematode genus affecting vegetable crops worldwide. The induction of plant defense mechanisms against Meloidogyne in tomato by some Trichoderma spp. strains has been proven ...
• Flow sorting enrichment and nanopore sequencing of chromosome 1 from a Chinese individual

  Kuderna, Lukas F.K.; Solís Moruno, Manuel; Batlle Masó, Laura; Julià, Eva; Lizano, Esther; Anglada Busquets, Roger; Ramírez Bautista, Eva; Bote, Alex; Tormo, Marc; Marquès i Bonet, Tomàs, 1975-; Fornas Carreño, Oscar; Casals López, Ferran (Frontiers Media, 2020)

  Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a ...
• The role of pre-existing cross-reactive central memory CD4 T-cells in vaccination with previously unseen influenza strains

  Nienen, Mikalai; Stervbo, Ulrik; Mölder, Felix; Kaliszczyk, Sviatlana; Kuchenbecker, Leon; Gayova, Ludmila; Schweiger, Brunhilde; Jürchott, Karsten; Hecht, Jochen; Neumann, Avidan U.; Rahmann, Sven; Westhoff, Timm; Reinke, Petra; Thiel, Andreas; Babel, Nina (Frontiers, 2019)

  Influenza vaccination is a common approach to prevent seasonal and pandemic influenza. Pre-existing antibodies against close viral strains might impair antibody formation against previously unseen strains-a process called ...
• Flavonoids and the risk of gastric cancer: an exploratory Case-Control study in the MCC-Spain study

  Vitelli Storelli, Facundo; Kogevinas, Manolis; Martín, Vicente (MDPI, 2019)

  Several epidemiological studies have investigated the association between the dietary flavonoid intake and gastric cancer (GC) risk; however, the results remain inconclusive. Investigating the relationship between the ...
• Role of leptin in the association between body adiposity and persistent asthma: a longitudinal study

  Li, Zhen; Leynaert, Bénédicte; Dumas, Orianne; Díaz Gil, Oscar; García Aymerich, Judith; Fitó Colomer, Montserrat; Le Moual, Nicole; Pison, Christophe; Romieu, Isabelle; Siroux, Valérie; Camargo, Carlos A.; Varraso, Raphaëlle; Nadif, Rachel (Wiley, 2019)

  Objective: Obesity is a likely risk factor for asthma. However, underlying mechanisms by which obesity affects asthma activity remain poorly understood. This study aimed to investigate the role of leptin, an adipocyte-derived ...
• Recent trends in molecular diagnostics of yeast infections: from PCR to NGS

  Consortium OPATHY; Gabaldón Estevan, Juan Antonio, 1973- (Oxford University Press, 2019)

  The incidence of opportunistic yeast infections in humans has been increasing over recent years. These infections are difficult to treat and diagnose, in part due to the large number and broad diversity of species that can ...
• An intrinsically disordered proteins community for ELIXIR

  Davey, Norman E.; Notredame, Cedric; Tosatto, Silvio C.E. (F1000Research, 2019)

  Intrinsically disordered proteins (IDPs) and intrinsically disordered regions (IDRs) are now recognised as major determinants in cellular regulation. This white paper presents a roadmap for future e-infrastructure developments ...
• The Dutch Y-chromosomal landscape

  Altena, Eveline; Smeding, Risha; van der Gaag, Kristiaan J.; Larmuseau, Maarten H. D.; Decorte, Ronny; Lao Grueso, Oscar, 1976-; Kayser, Manfred; Kraaijenbrink, Thirsa; de Knijff, Peter (Nature Research, 2020)

  Previous studies indicated existing, albeit limited, genetic-geographic population substructure in the Dutch population based on genome-wide data and a lack of this for mitochondrial SNP based data. Despite the aforementioned ...

View more