Browsing by Author "Estivill, Xavier, 1955-"

Sort by: Order: Results:

  • Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Tewari, Angela; Sarria-Trujillo, Yaris; Harrison, Graham I.; Puigdecanet Riubugent, Eulàlia; Nonell Mazelón, Lara; 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: ...
  • Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan (Wiley, 2019)
    Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in ...
  • Sušak, Hana, 1985-; Serra Saurina, Laura; Demidov, German, 1990-; Rabionet, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan (Public Library of Science (PLoS), 2021)
    Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates ...
  • Steyn, Angela; Crowther, Nigel J.; Norris, Shane A.; Rabionet, Raquel; Estivill, Xavier, 1955-; Ramsay, Michèle (Future Medicine, 2019)
    Aim: Gestational diabetes mellitus (GDM) has been linked with adverse long-term health outcomes for the fetus and mother. These effects may be mediated by epigenetic modifications. Materials & methods: Genome-wide RNA ...
  • 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 ...
  • 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 ...
  • Solé, Xavier; Hernández, Pilar; López de Heredia, Miguel de; Armengol i Dulcet, Lluís; Rodríguez Santiago, Benjamín; Gómez, Laia; Maxwell, Christopher A.; Aguilo, Fernando; Condom, Enric; Abril, Jesús; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Nunes, Virginia; Capellá, Gabriel; Gruber, Stephen B.; Moreno, Víctor; Pujana, Miguel Angel (BioMed Central, 2008)
    Background: Germline genetic variation is associated with the differential expression of many human genes. The phenotypic effects of this type of variation may be important when considering susceptibility to common genetic ...
  • Ombrello, Michael J.; Arthur, Victoria L.; Remmers, Elaine F.; Hinks, Anne; Tachmazidou, Ioanna; Grom, Alexei A.; Foell, Dirk; Martini, Alberto; Gattorno, Marco; Özen, Seza; Prahalad, Sampath; Zeft, Andrew S.; Bohnsack, John F.; Ilowite, Norman T.; Mellins, Elizabeth D.; Russo, Ricardo; Len, Claudio; Hilario, Maria Odete E.; Oliveira, Sheila; Yeung, Rae S.M.; Rosenberg, Alan M.; Wedderburn, Lucy R.; Anton, Jordi; Haas, Johannes-Peter; Rosen-Wolff, Angela; Minden, Kirsten; Tenbrock, Klaus; Demirkaya, Erkan; Cobb, Joanna; Baskin, Elizabeth; Signa, Sara; Shuldiner, Emily; Duerr, Richard H.; Achkar, Jean-Paul; Kamboh, M. Ilyas; Kaufman, Kenneth M.; Kottyan, Leah C.; Pinto, Dalila; Scherer, Stephen W.; Docampo, Elisa; Estivill, Xavier, 1955-; Gül, Ahmet; Langefeld, Carl D.; Thompson, Susan; Zeggini, Eleftheria; Kastner, Daniel L.; Woo, Patricia; Thomson, Wendy (BMJ Publishing Group, 2017)
    OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA ...
  • Morales, Eva; Bustamante Pineda, Mariona; González Ruiz, Juan Ramón; Guxens Junyent, Mònica; Torrent Quetglas, Maties; Mendez, Michelle A.; García Esteban, Raquel; Júlvez Calvo, Jordi; Forns i Guzman, Joan, 1981-; Vrijheid, Martine; Molto Puigmarti, Carolina; López Sabater, M. Carmen; Estivill, Xavier, 1955-; Sunyer Deu, Jordi (Public Library of Science (PLoS), 2011)
    Introduction: Breastfeeding effects on cognition are attributed to long-chain polyunsaturated fatty acids (LC-PUFAs), but controversy persists. Genetic variation in fatty acid desaturase (FADS) and elongase (ELOVL) enzymes ...
  • 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 ...
  • Cheung, Joseph; Estivill, Xavier, 1955-; Khaja, Razi; MacDonald, Jeffrey R; Lau, Ken; Tsui, Lap-Chee; Scherer, Stephen W. (BioMed Central, 2003)
    Background: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed ...
  • Morales, Eva; Vilahur Chiaraviglio, Nadia, 1982-; Salas Díaz, Lucas Andrés, 1980-; Motta, Valeria; Fernandez, Mariana F.; Murcia, Mario; Llop, Sabrina; Tardón, Adonina; Fernandez-Tardon, Guillermo; Santa Marina, Loreto; Gallastegui, Mara; Bollati, Valentina; Estivill, Xavier, 1955-; Olea, Nicolás; Sunyer Deu, Jordi; Bustamante Pineda, Mariona (Oxford University Press, 2016)
    BACKGROUND: We conducted an epigenome-wide association study (EWAS) of DNA methylation in placenta in relation to maternal tobacco smoking during pregnancy and examined whether smoking-induced changes lead to low birthweight. ...
  • 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 ...
  • Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine; Hutter, Barbara; Braun, Delia M.; Cortés-Ciriano, Isidro; Xi, Ruibin; Kabbe, Rolf; Park, Peter J.; Eils, Roland; Schlesner, Matthias; PCAWG Structural Variation Working Group; Brors, Benedikt; Rippe, Karsten; Jones, David T. W.; Feuerbach, Lars; PCAWG Consortium; Ossowski, Stephan; Estivill, Xavier, 1955- (Nature Research, 2020)
    Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative telomere lengthening associated with ATRX or DAXX loss. Here, as part of the ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Search DSpace

Browse

My Account

In collaboration with Compliant to Partaking