• Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

  Del Toro, N.; Piñero González, Janet, 1977-; Furlong, Laura I., 1971-; Porras, P.; IMEx Consortium Curators (Nature Research, 2019)

  The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct ...
• Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

  Haworth, S.; Vrijheid, Martine; Guxens Junyent, Mònica; Sunyer Deu, Jordi; St. Pourcain, Beate (Nature Research, 2019)

  Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the ...
• Germline variation at 8q24 and prostate cancer risk in men of European ancestry

  Matejcic, Marco; Kogevinas, Manolis; Haiman, Christopher A. (Nature Research, 2018)

  Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ...
• Manic fringe deficiency imposes jagged1 addiction to intestinal tumor cells

  López Arribillaga, Erika; Rodilla, Verónica; Colomer Montañá, Carlota; Vert, Anna; Shelton, Amy; Cheng, Jason H.; Yan, Bing; González Pérez, Abel; Junttila, Melissa R.; Iglesias Coma, Mar; Torres, Ferran; Albanell Mestres, Joan; Villanueva, Alberto; Bigas Salvans, Anna; Siebel, Christian W.; Espinosa Blay, Lluís (Nature Research, 2018)

  Delta ligands regulate Notch signaling in normal intestinal stem cells, while Jagged1 activates Notch in intestinal adenomas carrying active β-catenin. We used the ApcMin/+ mouse model, tumor spheroid cultures, and ...
• Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

  Dadaev, Tokhir; Kogevinas, Manolis; Castaño Vinyals, Gemma; Kote-Jarai, Zsofia (Nature Research, 2018)

  Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable ...
• Tumor-associated metabolic and inflammatory responses in early stage non-small cell lung cancer: Local patterns and prognostic significance

  Millares, Laura; Barreiro Portela, Esther; Cortes, Roldan; Martínez-Romero, Anabel; Balcells, Cristina; Cascante, Marta; Enguita, Ana Belen; Álvarez, Carlos; Rami-Porta, Ramón; Sánchez de Cos, Julio; Seijo, Luis; Monsó, Eduard; Grupo Colaborativo en Cáncer de Pulmón CIBERES-CIBERONC-SEPAR-Plataforma Biobanco Pulmonar (Elsevier, 2018)

  INTRODUCTION: Non-small cell lung cancer (NSCLC) patients diagnosed in early stage and surgically-treated have five-year mortality rate >20%. The identification of biomarkers able to predict progression and death may help ...
• Machine learning of coarse-grained molecular dynamics force fields

  Wang, Jiang; Olsson, Simon; Wehmeyer, Christoph; Pérez, Adrià; Charron, Nicholas E.; De Fabritiis, Gianni; Noé, Frank; Clementi, Cecilia (American Chemical Society (ACS), 2019)

  Atomistic or ab initio molecular dynamics simulations are widely used to predict thermodynamics and kinetics and relate them to molecular structure. A common approach to go beyond the time- and length-scales accessible ...
• Human cytomegalovirus antigen presentation by HLA-DR+ NKG2C+ adaptive NK cells specifically activates polyfunctional effector memory CD4+ T lymphocytes

  Costa García, Marcel, 1989-; Ataya, Michelle; Moraru, Manuela; Vilches, Carlos; López-Botet, Miguel; Muntasell i Castellví, Aura, 1972- (Frontiers, 2019)

  Natural killer (NK) cells play a dual role in the defense against viral pathogens by directly lysing infected cells as well as by regulating anti-viral T cell immunity. Infection by human cytomegalovirus (HCMV) promotes a ...
• An experimental assay of the interactions of amino acids from orthologous sequences shaping a complex fitness landscape

  Pokusaeva, Victoria O.; Usmanova, Dinara R.; Putintseva, Ekaterina V.; Espinar, Lorena; Sarkisyan, Karen S.; Mishin, Alexander S.; Bogatyreva, Natalya S.; Ivankov, Dmitry N.; Akopyan, Arseniy V.; Avvakumov, Sergey Ya; Povolotskaya, Inna, 1986-; Filion, Guillaume; Carey, Lucas; Kondrashov, Fyodor A., 1979- (Public Library of Science (PLoS), 2019)

  Characterizing the fitness landscape, a representation of fitness for a large set of genotypes, is key to understanding how genetic information is interpreted to create functional organisms. Here we determined the ...
• Genetic variation in pan species is shaped by demographic history and harbors lineage-specific functions

  Han, Sojung; Andrés Morán, Aida; Marquès i Bonet, Tomàs, 1975-; Kuhlwilm, Martin (Oxford University Press, 2019)

  Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives of humans, but the two species show distinct behavioral and physiological differences, particularly regarding female reproduction. ...
• GC/MS in recent years has defined the normal and clinically disordered steroidome: will it soon be surpassed by LC/Tandem MS in this role?

  Shackleton, Cedric; Pozo Mendoza, Óscar J., 1975-; Marcos del Águila, Josep, 1971- (Endocrine Society, 2018)

  Gas chromatography/mass spectrometry (GC/MS) has been used for steroid analysis since the 1960s. The advent of protective derivatization, capillary columns, and inexpensive electron ionization bench-top single quadrupole ...
• Improving liquid chromatography-tandem mass spectrometry determination of polycarboxylic acids in human urine by chemical derivatization. Comparison of o-benzyl hydroxylamine and 2-picolyl amine

  Gómez-Gómez, Àlex; Soldevilla, Angie; Pizarro Lozano, Nieves; Andreu-Fernandez, Vicente; Pozo Mendoza, Óscar J., 1975- (Elsevier, 2019)

  Due to its high sensitivity and specificity, liquid chromatography-electrospray tandem mass spectrometry (LC-MS/MS) could be considered as the gold-standard in targeted metabolomics. Although LC-MS/MS allows for the direct ...
• Transcriptomics data of 11 species of yeast identically grown in rich media and oxidative stress conditions

  Blevins, William R.; Carey, Lucas; Albà Soler, Mar (BioMed Central, 2019)

  Objective: The objective of this experiment was to identify transcripts in baker’s yeast (Saccharomyces cerevisiae) that could have originated from previously non-coding genomic regions, or de novo. We generated this data ...
• Clinical results of diffractive, refractive, hybrid multifocal, and monofocal intraocular lenses

  Dyrda, Agnieszka; Martínez-Palmer, A.R.; Martı́n-Moral, Daniel; Rey, Amanda; Morilla-Grasa, Antonio; Castilla-Martí, Miguel; Aronés-Santivañez, Janny (Hindawi, 2018)

  PURPOSE: To present the outcomes of hybrid multifocal and monofocal intraocular lenses (IOLs) and to compare with refractive and diffractive multifocal IOLs (MFIOLs). METHODS: Three hundred twenty eyes (160 patients) ...
• Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

  Küpers, Leanne K.; Salas Díaz, Lucas Andrés, 1980-; Bustamante, Mariona; Kogevinas, Manolis; Vrijheid, Martine; Sunyer Deu, Jordi; Felix, Janine Frédérique (Nature Research, 2019)

  Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in ...
• Factor structure of the spanish version of the Edinburgh postnatal depression scale

  Gutierrez-Zotes, Alfonso; Gallardo-Pujol, David; Labad, Javier; Martín Santos, Rocío; García-Esteve, Luisa; Gelabert, Estel; Jover, Manuel; Guillamat, Roser; Mayoral, Fermín; Gornemann, Isolde; Canellas, Francesca; Gratacós Mayora, Mònica; Guitart, Miriam; Roca, Miquel; Costas, Javier; Ivorra, Jose Luis; Navinés, Ricard; Diego, Yolanda de; Vilella, Elisabet; Sanjuan, Julio (Fundación López Ibor, 2018)

  INTRODUCTION: The Edinburgh Postnatal Depression Scale (EPDS) is considered the gold standard in screening for postpartum depression. Although the Spanish version has been widely used, its factorial structure has not yet ...
• EuroQol (EQ-5D-5L) validity in assessing the quality of life in adults with asthma: cross-sectional study

  Hernández, Gimena; Garin Boronat, Olatz; Dima, Alexandra L.; Pont Acuña, Àngels; Martí-Pastor, Marc; Alonso Caballero, Jordi; Van Ganse, Eric; Laforest, Laurent; Bruin, Marijn de; Mayoral, Karina; Serra-Sutton, Vicky; Ferrer Forés, Maria Montserrat; ASTRO-LAB group (JMIR Publications, 2019)

  BACKGROUND: The EuroQol-5 Dimension (EQ-5D), developed in 1990, is a most widely used generic tool to measure the health-related quality of life (HRQoL) and considered suitable for patients with asthma. In 2009, the EuroQol ...
• Candida periprosthetic joint infection: A rare and difficult-to-treat infection

  Escolà-Vergé, Laura; Sorli Redó, M. Luisa; Pigrau, C.; Study Group on Osteoarticular Infections of the Spanish Society of Clinical Microbiology and Infectious Diseases (GEIO-SEIMC); Spanish Network for Research in Infectious Pathology (REIPI) (Elsevier, 2018)

  BACKGROUND: Candida periprosthetic joint infection (CPJI) is a rare, difficult-to-treat disease. The purpose of this study was to evaluate the clinical characteristics and outcomes of CPJI treated with various surgical and ...
• Endoplasmic reticulum stress and unfolded protein response profile in quadriceps of sarcopenic patients with respiratory diseases

  Barreiro Portela, Esther; Salazar Degracia, Anna; Sancho Muñoz, Antonio; Gea Guiral, Joaquim (Wiley, 2019)

  mpaired muscle strength and mass (sarcopenia) are common in patients with respiratory cachexia, namely chronic obstructive pulmonary disease (COPD) and in lung cancer (LC)-cachexia. Misfolded/unfolded proteins in endoplasmic ...
• Differences in micro-RNA expression profile between vastus lateralis samples and myotubes in COPD cachexia

  Barreiro Portela, Esther; Sancho Muñoz, Antonio; Puig Vilanova, Ester, 1987-; Salazar Degracia, Anna; Pascual Guàrdia, Sergi, 1979-; Casadevall Fusté, Carme; Gea Guiral, Joaquim (American Physiological Society, 2019)

  Quadriceps muscle weakness and wasting are common comorbidities in chronic obstructive pulmonary disease (COPD). Micro-RNA expression upregulation may favor muscle mass growth and differentiation. We hypothesized that the ...

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