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Browsing Articles (Hospital del Mar Research Institute) by Author "Estivill, Xavier, 1955-"

Browsing Articles (Hospital del Mar Research Institute) by Author "Estivill, Xavier, 1955-"

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  • Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index
    Pardo, María Luisa; Crujeiras, Ana B.; Amil, María; Agüera, Zaida; Jiménez Murcia, Susana; Baños, Rosa M.; Botella, Cristina; Torre Fornell, Rafael de la; Estivill, Xavier, 1955-; Fagundo, Ana B.; Fernández Real, Jose M.; Fernández García, José C.; Frühbeck, Gema; Gómez Ambrosi, Javier; Rodríguez, Roser; Tinahones Madueño, Francisco José; Fernández Aranda, Fernando; Casanueva, Felipe F. (Hindawi, 2014)
    FNDC5/irisin has been recently postulated as beneficial in the treatment of obesity and diabetes because it is induced in muscle by exercise, increasing energy expenditure. However, recent reports have shown that WAT also ...
  • Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk
    Rubio Martínez, Mercedes, 1980-; Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Fernández-Orth, Dietmar; Pantano Rubiño, Lorena, 1982-; Sarria-Trujillo, Yaris; Piqué-Borras, Maria; Vellve del Amo, Kilian; Agramunt, Silvia; Carreras Collado, Ramón; Estivill, Xavier, 1955-; González Ruiz, Juan Ramón; Mayor, Alfredo (Public Library of Science (PLoS), 2018)
    Circulating small RNAs, including miRNAs but also isomiRs and other RNA species, have the potential to be used as non-invasive biomarkers for communicable and non-communicable diseases. This study aims to characterize and ...
  • Cluster analysis of clinical data identifies fibromyalgia subgroups
    Docampo, Elisa; Collado, Antonio; Escaramís, Geòrgia; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, José; Rabionet, Raquel; Estivill, Xavier, 1955- (Public Library of Science (PLoS), 2013)
    Introduction. Fibromyalgia (FM) is mainly characterized by widespread pain and multiple accompanying symptoms, which hinder FM assessment and management. In order to reduce FM heterogeneity we classified clinical data into ...
  • A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
    Aigner, Johanna, 1981-; Villatoro, Sergi; Rabionet, Raquel; Roquer, Jaume; Jiménez Conde, Jordi; Martí, Eulàlia; Estivill, Xavier, 1955- (BioMed Central, 2013)
    Background: The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T ...
  • Common variants at 12q15 and 12q24 are associated with infant head circumference
    Taal, H. Rob; Guxens Junyent, Mònica; Sunyer Deu, Jordi; Estivill, Xavier, 1955-; Jaddoe, Vincent W. V. (Nature Research, 2012)
    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy ...
  • Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing
    Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet (Wiley, 2014)
    Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous ...
  • Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome
    Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Tewari, Angela; Sarria-Trujillo, Yaris; Harrison, Graham I.; Puigdecanet Riubugent, Eulàlia; Nonell Mazelon, Lara, 1972-; Kang, Wenjing; Friedländer, Marc R.; Estivill, Xavier, 1955-; González, Juan Ramón; Nieuwenhuijsen, Mark J.; Young, Antony R. (Wiley, 2019)
    BACKGROUND: Terrestrial ultraviolet (UV) radiation causes erythema, oxidative stress, DNA mutations and skin cancer. Skin can adapt to these adverse effects by DNA repair, apoptosis, keratinization and tanning. OBJECTIVES: ...
  • Evidence for the biogenesis of more than 1,000 novel human microRNAs
    Friedländer, Marc R.; Lizano González, Esther, 1974-; Houben, Anna J.; Bezdan, Daniela; Bañez Coronel, Mónica; Kudla, Grzegorz; Mateu Huertas, Elisabet, 1983-; Kagerbauer, Birgit; González Morilla, Justo; Chen, Kevin C; LeProust, Emily M; Martí Puig, Eulàlia; Estivill, Xavier, 1955- (BioMed Central, 2014)
    Background: MicroRNAs (miRNAs) are established regulators of development, cell identity and disease. Although nearly two thousand human miRNA genes are known and new ones are continuously discovered, no attempt has been ...
  • Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.
    Costas, Javier; Carrera, Noa; Alonso, Pino; Gurriarán, X.; Segalàs, Cinto; Real, Eva; López-Solà, Clara; Mas, Sebastian; Gassó, Patricia; Domènech Salgado, Laura, 1989-; Morell, Marta; Quintela Garcia, Ines; Lázaro, Luisa; Menchón, José M.; Estivill, Xavier, 1955-; Carracedo, Ángel (Nature publishing group, 2016)
    Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability of obsessive-compulsive disorder (OCD). Co-ocurrence of OCD and schizophrenia is commoner than expected based on their ...
  • Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
    Beaumont, Robin N.; Espinosa Díaz, Ana; Kogevinas, Manolis; Estivill, Xavier, 1955- (Oxford University Press, 2018)
    Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated ...
  • Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.
    Yin, Xianyong; Estivill, Xavier, 1955-; Liu, Jianjun (Nature Publishing Group, 2015)
    Psoriasis is a common inflammatory skin disease with complex genetics and different degrees of prevalence across ethnic populations. Here we present the largest trans-ethnic genome-wide meta-analysis (GWMA) of psoriasis ...
  • GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
    Couto Alves, Alexessander; Estivill, Xavier, 1955-; Sunyer Deu, Jordi; Early Growth Genetics (EGG) Consortium (American Association for the Advancement of Science (AAAS), 2019)
    Early childhood growth patterns are associated with adult health, yet the genetic factors and the developmental stages involved are not fully understood. Here, we combine genome-wide association studies with modeling of ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

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