Browsing by Author "Estivill, Xavier, 1955-"

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  • Design and evaluation of a panel os single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
    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 ...
  • 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 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: ...
  • Duplicacions segmentàries a la regió cromosòmica humana 8P23.1: evolució i expansió d'una nova família gènica
    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 ...
  • eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics
    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 ...
  • Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
    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 ...
  • Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus
    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 ...
  • Evidence for the biogenesis of more than 1,000 novel human microRNAs
    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 ...
  • 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 ...
  • Full characterization of the small RNA transcriptome using novel computational methods for high-throughput sequencing data: study of miRNA variability in eukaryote organisms.
    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 ...
  • Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility
    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 ...
  • Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications
    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 ...
  • Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition
    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 ...
  • Genetical, structural and functional characterization of the human BTNL gene cluster
    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 ...
  • 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 detection of segmental duplications and potential assembly errors in the human genome sequence
    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 ...
  • Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy
    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. ...
  • 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 ...
  • Genomic footprints of activated telomere maintenance mechanisms in cancer
    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 ...
  • 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 ...