Browsing by Author "Esko, Tõnu"

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  • Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
    Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumi, Armand, 1980-; Lopez-Espinosa, Maria-José; Llop, Sabrina; Bustamante Pineda, Mariona; Tiemeier, Henning; Metspalu, Andres; Joshi, Peter K.; Wilsonx, James F.; Reina-Castillón, Judith; Shin, Jean; Pausova, Zdenka; Paus, Tomáš; Sunyer Deu, Jordi; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS) , 2016)
    The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, ...
  • Developing the building blocks to elucidate the impact of the urban exposome on cardiometabolic-pulmonary disease: The EU EXPANSE project
    Vlaanderen, Jelle; de Hoogh, Kees; Hoek, Gerard; Peters, Annette; Probst-Hensch, Nicole; Scalbert, Augustin; Melén, Erik; Tonne, Cathryn; de Wit, G. Ardine; Chadeau-Hyam, Marc; Katsouyanni, Klea; Esko, Tõnu; Jongsma, Karin R.; Vermeulen, Roel (Wolters Kluwer (LWW), 2021)
    By 2030, more than 80% of Europe's population will live in an urban environment. The urban exposome, consisting of factors such as where we live and work, where and what we eat, our social network, and what chemical and ...
  • Evolutionary and functional impact of common polymorphic inversions in the human genome
    Giner Delgado, Carla; Villatoro, Sergi; Lerga Jaso, Jon; Gayà Vidal, Magdalena; Oliva, Meritxell; Castellano Esteve, David; Pantano Rubiño, Lorena, 1982-; Bitarello, Bárbara D.; Izquierdo, David; Noguera, Isaac; Olalde Marquínez, Íñigo, 1987-; Delprat, Alejandra; Blancher, Antoine; Lalueza Fox, Carles, 1965-; Esko, Tõnu; O'Reilly, Paul F.; Andrés Morán, Aida, 1976-; Ferretti, Luca; Puig, Marta; Cáceres Aguilar, Mario (Nature Research, 2019)
    Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to ...
  • Extreme downregulation of chromosome Y and cancer risk in men
    Cáceres, Alejandro; Jene, Aina; Esko, Tõnu; Pérez Jurado, Luis Alberto; González, Juan Ramón (Oxford University Press, 2020)
    Background: Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized that the extreme downregulation of chromosome Y gene expression (EDY) is ...
  • MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data
    González, Juan Ramón; López Sánchez, Marcos, 1986-; Cáceres, Alejandro; Puig, Pere; Esko, Tõnu; Pérez Jurado, Luis Alberto (BioMed Central, 2020)
    Background: Accurate protocols and methods to robustly detect the mosaic loss of chromosome Y (mLOY) are needed given its reported role in cancer, several age-related disorders and overall male mortality. Intensity SNP-array ...