Browsing by Author "Estivill, Xavier, 1955-"

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  • Muiños Gimeno, Margarita; Montfort, Magda; Bayés, Mònica; Estivill, Xavier, 1955-; Espinosa Parrilla, Yolanda, 1971- (Nature Publishing Group, 2010)
    MicroRNAs (miRNA) are recognized posttranscriptional gene repressors involved in the control of almost every biological process. Allelic variants in these regions may be an important source of phenotypic diversity and ...
  • 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 ...
  • Bustamante Pineda, Mariona; Hernandez-Ferrer, Carles, 1987-; Tewari, Angela; Sarria-Trujillo, Yaris; Harrison, Graham I.; Puigdecanet Riubugent, Eulàlia; Nonell Mazelón, Lara; Kang, W.; 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: ...
  • Bosch Pagès, Nina (Universitat Pompeu Fabra, 2008-12-19)
    Les duplicacions segmentàries (DSs), o també anomenades duplicons o Low copy Repeats (LCRs), són regions de coma mínim 1 kb amb un alt nivell d'identitat (>90%), que estan presents almenys dues vegades en el genoma. La ...
  • 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 JS; 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 ...
  • Pantano Rubiño, Lorena (Universitat Pompeu Fabra, 2011-09-26)
    In this thesis we have developed a user-friendly tool, SeqBuster, for the analysis of small RNA (sRNA) data generated by next generation sequencing strategies, with special emphasis on deep characterization of miRNA ...
  • 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 ...
  • Aigner, Johanna, 1981- (Universitat Pompeu Fabra, 2013-11-25)
    La família B7 de proteïnes és àmpliament reconeguda per jugar un paper important en els processos inflamatoris mitjançant l'alteració de la capacitat de resposta de les cèl•lules T. La unió d’aquestes proteïnes als seus ...
  • 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 ...