Browsing by Author "Estivill, Xavier, 1955-"

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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 ...
  • Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model
    Mercader Bigas, Josep Maria; Lozano, Juan José; Sumoy Van Dyck, Lauro; Dierssen, Mara; Visa, Joana; Gratacós Mayora, Mònica; Estivill, Xavier, 1955- (American Physiological Society, 2008)
    The anx/anx mouse displays poor appetite and lean appearance and is considered a good model for the study of anorexia nervosa. To identify new genes involved in feeding behavior and body weight regulation we performed an ...
  • Identification of gene mutations and fusion genes in patients with Sézary syndrome.
    Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955- (Elsevier, 2016)
    Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being ...
  • In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children
    Vives Usano, Marta, 1990-; Hernández-Ferrer, Carles; Maitre, Léa; Ruiz Arenas, Carlos, 1990-; Borràs, Eva; Casas Sanahuja, Maribel; Estivill, Xavier, 1955-; González, Juan Ramón; Sabidó Aguadé, Eduard, 1981-; Vrijheid, Martine; Bustamante Pineda, Mariona (BioMed Central, 2020)
    Background: The adverse health effects of early life exposure to tobacco smoking have been widely reported. In spite of this, the underlying molecular mechanisms of in utero and postnatal exposure to tobacco smoke are only ...
  • Insight into disease processes of fragil X premutation carriers associated pathologies : expression-profile characterization and identification of a novel pathogenic mechanisms
    Mateu Huertas, Elisabet, 1983- (Universitat Pompeu Fabra, 2013-11-15)
    Male premutation carriers (PM) presenting between 55-200 CGG repeats in the Fragile X-associated (FMR1) gene are at risk to develop Fragile X Tremor/Ataxia Syndrome (FXTAS), and females to undergo Premature Ovarian Failure ...
  • Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability
    Ballana Guix, Ester; González Ruiz, Juan Ramón; Bosch Pagès, Nina; Estivill, Xavier, 1955- (BioMed Central, 2007)
    Background: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 ...
  • Los secretos del genoma
    Estivill, Xavier, 1955- (Quark, 2001-01-11)
  • Mecanismes moleculars en el transtorn de la conducta alimentària: estudis en humans i en model murins
    Mercader Bigas, Josep Maria (Universitat Pompeu Fabra, 2008-07-11)
    Els trastorns de la conducta alimentària (TCA) tenen una etiologia complexa en la que hi intervenen factors de predisposició socioculturals, ambientals i genètics. S'ha aprofundit en les bases moleculars dels TCA mitjançant ...
  • Mendelian disease gene identification and diagnosis using targeted next generation sequencing
    Trujillano Lidón, Daniel, 1987- (Universitat Pompeu Fabra, 2013-12-05)
    Les tecnologies de seqüenciació de nova generació (NGS) han emergit com a una poderosa eina per al descobriment de mutacions causals i nous gens per a malalties Mendelianes, i estan tenint un ràpid impacte en l’àmbit del ...
  • Micro RNA-Mediated regulation of the full-length and truncated isoforms of human neurotrophic tyrosine kinase receptor type 3 (NTRK 3)
    Guidi, Mònica (Universitat Pompeu Fabra, 2009-01-13)
    Neurotrophins and their receptors are key molecules in the development of the<br/>nervous system. Neurotrophin-3 binds preferentially to its high-affinity receptor<br/>NTRK3, which exists in two major isoforms in humans, ...
  • Molecular basis of deafness linked to mitochondrial DNA mutations
    Ballana Guix, Ester (Universitat Pompeu Fabra, 2007-05-04)
    La seqüenciació del genoma humà ha marcat una fita important en la història de la biologia. Com a conseqüència, la genètica i la genòmica han experimentat un progrés enorme. Això ha permès un millor coneixement tant de les ...
  • MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
    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 ...
  • Multi-omics signatures of the human early life exposome
    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) ...
  • A novel common variant in DCST2 is associated with length in early life and height in adulthood
    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 ...
  • Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
    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 ...
  • Pan-cancer analysis of whole genomes
    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 ...
  • PeSV-Fisher: identification of somatic and non-somatic structural variants using nextgeneration sequencing data
    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 ...
  • Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta
    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 ...
  • Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta
    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 ...