Browsing by Author "Estivill, Xavier, 1955-"

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  • Ballana Guix, Ester; Mercader Bigas, Josep Maria; Fischel Ghodsian, Nathan; Estivill, Xavier, 1955- (BioMed Central, 2007)
    Background: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or ...
  • Maitre, Léa; Bustamante Pineda, Mariona; Hernández Ferrer, Carles; Vives Usano, Marta, 1990-; Ruiz-Arenas, Carlos; Pelegrí-Sisó, Dolors; Casas Sanahuja, Maribel; Sunyer Deu, Jordi; Nieuwenhuijsen, Mark J.; Urquiza, José M.; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; Estivill, Xavier, 1955-; González, Juan Ramón; Vrijheid, Martine (Nature Research, 2022)
    Environmental exposures during early life play a critical role in life-course health, yet the molecular phenotypes underlying environmental effects on health are poorly understood. In the Human Early Life Exposome (HELIX) ...
  • van der Valk, Ralf J.P.; Guxens Junyent, Mònica; EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium; Bustamante Pineda, Mariona; Estivill, Xavier, 1955-; González Ruiz, Juan Ramón; Sunyer Deu, Jordi; Early Growth Genetics (EGG) Consortium (Oxford University Press, 2015)
    Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we ...
  • Bosch Pagès, Nina; Morell, Marta; Ponsa, Immaculada; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2009)
    Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms ...
  • ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German, 1990-; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Sušak, Hana, 1985-; Rabionet, Raquel; Stobbe, Miranda D.; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Gut, Ivo Glynne; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Whalley, Justin P.; Heath, Simon; Prasad, Aparna; Heredia Genestar, José María, 1985-; Sabarinathan, Radhakrishnan; Pich, Oriol; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992- (Nature Research, 2020)
    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale . Here we report the integrative analysis of 2,658 ...
  • Escaramís, Geòrgia; Tornador Antolin, Cristian, 1979-; Bassaganyas Bars, Laia, 1985-; Rabionet, Raquel; Tubio, José M. C.; Martínez Fundichely, Alexander, 1978-; Cáceres Aguilar, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the ...
  • Vilahur Chiaraviglio, Nadia, 1982-; Bustamante Pineda, Mariona; Morales, Eva; Motta, Valeria; Fernandez, Mariana F.; Salas, Lucas A.; Escaramís, Geòrgia; Ballester Díez, Ferran; Murcia, Mario; Tardón, Adonina; Riaño, Isolina; Santa Marina, Loreto; Ibarluzea, Jesús; Arrebola, Juan Pedro; Estivill, Xavier, 1955-; Bollati, Valentina; Sunyer Deu, Jordi; Olea, Nicolás (Future Medicine, 2016)
    BACKGROUND: In utero exposure to xenostrogens may modify the epigenome. We explored the association of prenatal exposure to mixtures of xenoestrogens and genome-wide placental DNA methylation. MATERIALS & METHODS: Sex-specific ...
  • Vilahur Chiaraviglio, Nadia, 1982-; Bustamante Pineda, Mariona; Byun, Hyang-Min; Fernandez, Mariana F.; Santa Marina, Loreto; Basterrechea, Mikel; Ballester Díez, Ferran; Murcia, Mario; Tardón, Adonina; Fernández Somoano, Ana; Estivill, Xavier, 1955-; Olea, Nicolás; Sunyer Deu, Jordi; Baccarelli, Andrea A. (Elsevier, 2014)
    BACKGROUND: Prenatal exposure to endocrine disrupting compounds (EDCs) has previously shown to alter epigenetic marks. OBJECTIVES: In this work we explore whether prenatal exposure to mixtures of xenoestrogens has the ...
  • Almouzni, Geneviève; Estivill, Xavier, 1955-; Ossowski, Stephan; Widschwendter, Martin (BioMed Central, 2014)
    Understanding the links between genetic, epigenetic and non-genetic factors throughout the lifespan and across generations and their role in disease susceptibility and disease progression offer entirely new avenues and ...
  • Li, Constance H.; Stobbe, Miranda D.; Déu Pons, Jordi; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich Roselló, Oriol, 1992-; Rubio Pérez, Carlota, 1990-; Sabarinathan, Radhakrishnan; Tamborero Noguera, David; Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Bosio, Mattia; Demidov, German, 1990-; Drechsel, Oliver; Escaramís, Geòrgia; Estivill, Xavier, 1955-; Holik, Aliaksei Z.; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Rabionet, Raquel; Sušak, Hana, 1985-; PCAWG Consortium (Nature Research, 2020)
    Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...
  • Zapata Ortiz, Luis, 1985-; Sušak, Hana, 1985-; Drechsel, Oliver; Friedländer, Marc R.; Estivill, Xavier, 1955-; Ossowski, Stephan (Nature Publishing Group, 2017)
    Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...
  • Martí, Eulàlia; Estivill, Xavier, 1955- (Frontiers, 2013)
    Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation. Trinucleotide-repeat expansions occur in coding and ...
  • Vilahur Chiaraviglio, Nadia, 1982-; Baccarelli, Andrea A.; Bustamante Pineda, Mariona; Agramunt, Silvia; Byun, Hyang-Min; Fernandez, Mariana F.; Sunyer Deu, Jordi; Estivill, Xavier, 1955- (Future Medicine, 2013)
    AIM: The placenta is an informative and easily available tissue for many epidemiological studies. We analyzed the extent to which storage delay affects DNA methylation. MATERIAL & METHODS: Biopsies from two placentas were ...
  • Rué, Laura; Bañez Coronel, Mónica; Creus-Muncunill, Jordi; Giralt, Albert; Alcalá-Vida, Rafael; Mentxaka, Gartze; Kagerbauer, Birgit; Zomeño-Abellán, M. Teresa; Aranda, Zeus; Venturi, Veronica; Pérez-Navarro, Esther; Estivill, Xavier, 1955-; Martí, Eulàlia (American Society for Clinical Investigation, 2016)
    Huntington's disease (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1. This expansion encodes a mutant protein whose abnormal function is traditionally associated with HD ...
  • Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Sarria-Trujillo, Yaris; Harrison, Graham I.; Nonell Mazelon, Lara, 1972-; Kang, Wenjing; Friedländer, Marc R.; Estivill, Xavier, 1955-; González, Juan Ramón; Nieuwenhuijsen, Mark J.; Young, Antony R. (Elsevier, 2017)
    The molecular basis of many health outcomes attributed to solar ultraviolet radiation (UVR) is unknown. We tested the hypothesis that they may originate from transcriptional changes in blood cells. This was determined by ...
  • Mohr, Sandra; Bustamante Pineda, Mariona; Estivill, Xavier, 1955-; Niesler, Beate (Wiley, 2021)
    Irritable bowel syndrome (IBS) is a gut-brain disorder in which symptoms are shaped by serotonin acting centrally and peripherally. The serotonin transporter gene SLC6A4 has been implicated in IBS pathophysiology, but the ...
  • Solé, Carla; Tramonti, Daniela; Schramm, Maike; Goicoechea, Ibai; Armesto, María; Hernandez, Luiza I.; Manterola, Lorea; Fernandez-Mercado, Marta; Mujika, Karmele; Tuneu, Anna; Jaka, Ane; Tellaetxe, Maitena; Friedländer, Marc R.; Estivill, Xavier, 1955-; Piazza, Paolo; Ortiz-Romero, Pablo L.; Middleton, Mark R.; Lawrie, Charles H. (MDPI, 2019)
    The circulating transcriptome is a valuable source of cancer biomarkers, which, with the exception of microRNAs (miRNAs), remains relatively unexplored. To elucidate which RNAs are present in plasma from melanoma patients ...
  • Castro Giner, Francesc; Künzli, Nino; Jacquemin Leonard, Bénédicte; Forsberg, Bertil; Cid Ibeas, Rafael de; Sunyer Deu, Jordi; Jarvis, Deborah; Briggs, David; Vienneau, Danielle; Norbäck, Dan; Gonzalez, Juan Ramon; Guerra, Stefano; Janson, Christer; Antó i Boqué, Josep Maria; Wjst, Matthias; Heinrich, Joachim; Estivill, Xavier, 1955-; Kogevinas, Manolis (National Institute of Environmental Health Sciences (NIEHS), 2009)
    BACKGROUND: Traffic-related air pollution is related with asthma, and this association may be modified by genetic factors. OBJECTIVES: We investigated the role of genetic polymorphisms potentially modifying the association ...
  • Rubio, Mercedes; Bassat, Quique; Estivill, Xavier, 1955-; Mayor, Alfredo (BioMed Central, 2016)
    Symptoms caused by bacterial, viral and malarial infections usually overlap and aetiologic diagnosis is difficult. Patient management in low-resource countries with limited laboratory services has been based predominantly ...
  • Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva, Meritxell; Izquierdo, David; Giner Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander, 1978-; Capilla, Laia; Ruiz Herrera, Aurora; Estivill, Xavier, 1955-; Puig, Marta; Cáceres Aguilar, Mario (Public Library of Science (PLoS), 2014)
    In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult ...

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