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Browsing Departament de Medicina i Ciències de la Vida by Title

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  • Human Early Life Exposome (HELIX) study: a European population-based exposome cohort
    Maitre, Léa; De Bont, Jeroen, 1989-; Casas Sanahuja, Maribel; Robinson, Oliver; Basagaña Flores, Xavier; Borràs, Eva; Bustamante Pineda, Mariona; de Castro, Montserrat; Donaire González, David; Estivill, Xavier, 1955-; Fossati, Serena; González, Juan Ramón; Hernández-Ferrer, Carles; Júlvez Calvo, Jordi; Manzano Salgado, Cyntia Beatriz, 1987-; Sabidó Aguadé, Eduard, 1981-; Sunyer Deu, Jordi; Tamayo-Uria, Ibon; Urquiza, José M.; van Gent, Diana; Vives Usano, Marta, 1990-; Warembourg, Charline; Nieuwenhuijsen, Mark J.; Vrijheid, Martine (BMJ Publishing Group, 2018)
    PURPOSE: Essential to exposome research is the collection of data on many environmental exposures from different domains in the same subjects. The aim of the Human Early Life Exposome (HELIX) study was to measure and ...
  • The Human Early-Life Exposome (HELIX): project rationale and design
    Vrijheid, Martine; Robinson, Oliver; Basagaña Flores, Xavier; Bustamante Pineda, Mariona; Casas Sanahuja, Maribel; Estivill, Xavier, 1955-; van Gent, Diana; González Ruiz, Juan Ramón; Júlvez Calvo, Jordi; Kogevinas, Manolis; Sabidó Aguadé, Eduard, 1981-; Sunyer Deu, Jordi; Nieuwenhuijsen, Mark J. (National Institute of Environmental Health Sciences (NIEHS), 2014)
    Background: Developmental periods in early life may be particularly vulnerable to impacts of environmental exposures. Human research on this topic has generally focused on single exposure–health effect relationships. The ...
  • Human epidermal stem cell function is regulated by circadian oscillations
    Janich, Peggy, 1981-; Toufighi, Kiana, 1980-; Solanas, Guiomar; Luis, Nuno Miguel, 1982-; Minkwitz, Susann; Serrano Pubull, Luis, 1982-; Lehner, Ben, 1978-; Aznar Benitah, Salvador (Elsevier, 2013)
    Human skin copes with harmful environmental factors that are circadian in nature, yet how circadian rhythms modulate the function of human epidermal stem cells is mostly unknown. Here we show that in human epidermal stem ...
  • Human genetic adaptation related to cellular zinc homeostasis
    Roca-Umbert Würth, Ana; García Calleja, Jorge; Vogel González, Marina, 1993-; Fierro Villegas, José Alejandro; Ill-Raga, Gerard, 1982-; Herrera-Fernández, Víctor; Bosnjak, Anja; Muntané, Gerard; Gutiérrez García, Esteban; Campelo, Felix; Vicente García, Rubén, 1978-; Bosch Fusté, Elena (Public Library of Science (PLoS), 2023)
    SLC30A9 encodes a ubiquitously zinc transporter (ZnT9) and has been consistently suggested as a candidate for positive selection in humans. However, no direct adaptive molecular phenotype has been demonstrated. Our results ...
  • Human genome variation and the concept of genotype networks
    Dall'Olio, Giovanni Marco, 1983-; Bertranpetit, Jaume, 1952-; Wagner, Andreas; Laayouni, Hafid, 1968- (Public Library of Science (PLoS), 2014)
    Genotype networks are a concept used in systems biology to study sets of genotypes having the same phenotype, and the ability of these to bring forth novel phenotypes. In the past they have been applied to determine the ...
  • Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
    Colonna, Vincenza; Ayub, Qasim; Cheng, Yuan; Pagani, Luca; Luisi, Pierre, 1985-; Pybus Oliveras, Marc, 1985-; Garrison, Erik; Xue, Yali; Tyler-Smith, Chris; The 1000 Genomes Project Consortium (BioMed Central, 2014)
    Background: Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have ...
  • Human herpesvirus diversity is altered in HLA class I binding peptides
    Palmer, William H.; Telford, Marco, 1984-; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981-; Norman, Paul J. (National Academy of Sciences, 2022)
    Herpesviruses are ubiquitous, genetically diverse DNA viruses, with long-term presence in humans associated with infrequent but significant pathology. Human leukocyte antigen (HLA) class I presents intracellularly derived ...
  • Human Monocytes Engage an Alternative Inflammasome Pathway
    Gaidt, Moritz M.; Ebert, Thomas S.; Chauhan, Dhruv; Schmidt, Tobias; Schmid-Burgk, Jonathan L.; Rapino, Francesca, 1982-; Robertson, Avril A. B.; Cooper, Matthew A.; Graf, T. (Thomas); Hornung, Veit (Elsevier, 2016)
    Interleukin-1β (IL-1β) is a cytokine whose bioactivity is controlled by activation of the inflammasome. However, in response to lipopolysaccharide, human monocytes secrete IL-1β independently of classical inflammasome ...
  • Human N-methyl D-aspartate receptor antibodies alter memory and behaviour in mice
    Planagumà, Jesús; Leypoldt, Frank; Mannara, Francesco; Gutiérrez Cuesta, Javier; Martín García, Elena, 1975-; Aguilar, Esther; Titulaer, Maarten J.; Petit-Pedrol, Mar; Jain, Ankit; Balice-Gordon, Rita; Lakadamyali, Melike; Graus, Francesc; Maldonado, Rafael, 1961-; Dalmau, Josep (Oxford University Press, 2015)
    Anti-N-methyl D-aspartate receptor (NMDAR) encephalitis is a severe neuropsychiatric disorder that associates with prominent memory and behavioural deficits. Patients' antibodies react with the N-terminal domain of the ...
  • Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting
    Sanchez-Delgado, Marta; Court, Franck; Vidal, Enrique; Medrano, Jose; Monteagudo-Sánchez, Ana; Martin-Trujillo, Alex; Tayama, Chiharu; Iglesias-Platas, Isabel; Kondova, Ivanela; Bontrop, Ronald E.; Poo-Llanillo, Maria Eugenia; Marquès i Bonet, Tomàs, 1975-; Nakabayashi, Kazuhiko; Simón, Carlos; Monk, David (Public Library of Science (PLoS), 2016)
    Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive ...
  • Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes
    Miguel Escalada, Irene; Bonàs-Guarch, Silvia; Mendieta Esteban, Julen, 1992-; Atla, Goutham; Farabella, Irene; Morgan, Claire C.; García-Hurtado, Javier; Morán, Ignasi; Torrents, David; Mercader Bigas, Josep Maria; Marti-Renom, Marc A.; Ferrer, Jorge (Nature Research, 2019)
    Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, ...
  • Human Pharmacology of Mephedrone in Comparison with MDMA.
    Papaseit Fontanet, Esther; Pérez Mañá, Clara; Mateus Rodriguez, Julian Andrés; Pujadas Bastardes, Mitona; Fonseca Casals, Francina, 1972-; Torrens, Marta; Olesti Muñoz, Eulàlia, 1991-; Torre Fornell, Rafael de la; Farré Albaladejo, Magí (Nature Publishing Group, 2016)
    Mephedrone (4-methylmethcathinone) is a novel psychoactive substance popular among drug users because it displays similar effects to MDMA (3,4-methylenedioxymethamphetamine, ecstasy). Mephedrone consumption has been ...
  • Human synthetic lethal inference as potential anti-cancer target gene detection
    Conde Pueyo, Núria, 1983-; Munteanu, Andreea; Solé Vicente, Ricard, 1962-; Rodríguez Caso, Carlos (BioMed Central, 2009)
    Background: Two genes are called synthetic lethal (SL) if mutation of either alone is not lethal, but mutation of both leads to death or a significant decrease in organism's fitness. The detection of SL gene pairs constitutes ...
  • Human tRNAs with inosine 34 are essential to efficiently translate eukarya-specific low-complexity proteins
    Torres, Adrian Gabriel; Rodríguez-Escribà, Marta; Marcet Houben, Marina; Santos Vieira, Helaine Graziele; Camacho, Noelia; Catena, Helena; Murillo Recio, Marina; Rafels-Ybern, Àlbert; Reina García, Óscar, 1976-; Torres, Francisco Miguel; Pardo Saganta, Ana; Gabaldón Estevan, Juan Antonio, 1973-; Novoa, Eva Maria; Ribas de Pouplana, Lluís (Oxford University Press, 2021)
    The modification of adenosine to inosine at the wobble position (I34) of tRNA anticodons is an abundant and essential feature of eukaryotic tRNAs. The expansion of inosine-containing tRNAs in eukaryotes followed the ...
  • Huntington's disease-specific mis-splicing unveils key effector genes and altered splicing factors
    Elorza, Ainara; Márquez, Yamile; Cabrera, Jorge; Sánchez-Trincado, José Luis; Santos-Galindo, María; Hernández, Ivó H.; Picó, Sara; Díaz-Hernández, Juan I.; García-Escudero, Ramón; Irimia Martínez, Manuel; Lucas, José J. (Oxford University Press, 2021)
    Correction of mis-splicing events is a growing therapeutic approach for neurological diseases such as spinal muscular atrophy or neuronal ceroid lipofuscinosis 7, which are caused by splicing-affecting mutations. Non-mutation ...
  • Hybrid approach to model the spatial regulation of T cell responses
    Bouchnita, Anass; Bocharov, Gennady A.; Meyerhans, Andreas; Volpert, Vitaly (BioMed Central, 2017)
    BACKGROUND: Moving from the molecular and cellular level to a multi-scale systems understanding of immune responses requires the development of novel approaches to integrate knowledge and data from different biological ...
  • Hybridization and emergence of virulence in opportunistic human yeast pathogens
    Mixão, Verónica; Gabaldón Estevan, Juan Antonio, 1973- (Wiley, 2018)
    Hybridization between different species can result in the emergence of new lineages and adaptive phenotypes. Occasionally, hybridization in fungal organisms can drive the appearance of opportunistic lifestyles or shifts ...
  • Hydrotalcite-embedded magnetite nanoparticles for hyperthermia-triggered chemotherapy
    Simeonidis, Konstantinos; Kaprara, Efthimia; Rivera Gil, Pilar, 1976-; Xu, Ruixue; Teran, Francisco J.; Kokkinos, Evgenios; Mitropoulos, Athanassios; Maniotis, Nikolaos; Balcells, Lluis (MDPI, 2021)
    A magnetic nanocomposite, consisting of Fe3O4 nanoparticles embedded into a Mg/Al layered double hydroxide (LDH) matrix, was developed for cancer multimodal therapy, based on the combination of local magnetic hyperthermia ...
  • HypercubeME: two hundred million combinatorially complete datasets from a single experiment
    Esteban, Laura Avino; Lonishin, Lyubov R.; Bobrovskiy, Daniil; Leleytner, Gregory; Bogatyreva, Natalya S.; Kondrashov, Fyodor A., 1979-; Ivankov, Dmitry N. (Oxford University Press, 2020)
    Motivation: Epistasis, the context-dependence of the contribution of an amino acid substitution to fitness, is common in evolution. To detect epistasis, fitness must be measured for at least four genotypes: the reference ...
  • Hyperspectral-enhanced dark field analysis of individual and collective photo-responsive gold-copper sulfide nanoparticles
    Zamora Pérez, Paula, 1988-; Pelaz, Beatriz; Tsoutsi, Dionysia; Soliman, Mahmoud G.; Parak, Wolfgang J.; Rivera Gil, Pilar, 1976- (Royal Society of Chemistry, 2021)
    We used hyperspectral-enhanced dark field microscopy for studying physicochemical changes in biomaterials by tracking their unique spectral signatures along their pathway through different biological environments typically ...

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