Browsing by Author "Esteller Cucala, Paula"

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  • Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures
    García Pérez, Raquel, 1989-; Esteller Cucala, Paula; Mas, Glòria; Lobon Garcia, Irene; Di Carlo, Valerio; Riera, Meritxell; Kuhlwilm, Martin; Navarro i Cuartiellas, Arcadi, 1969-; Blancher, Antoine; Di Croce, Luciano; Gómez Skarmeta, José Luis; Juan, David; Marquès i Bonet, Tomàs, 1975- (Nature Research, 2021)
    Changes in the epigenetic regulation of gene expression have a central role in evolution. Here, we extensively profiled a panel of human, chimpanzee, gorilla, orangutan, and macaque lymphoblastoid cell lines (LCLs), using ...
  • Evolutionary insights into primate gene regulation and development of methods to study DNA modifications
    Esteller Cucala, Paula (Universitat Pompeu Fabra, 2023-04-27)
    Changes in the epigenetic regulation of gene expression have important implications for evolution. However, the study of these changes (i) has not been consistently assessed across closely related species, (ii) oftentimes ...
  • Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples
    Esteller Cucala, Paula; Maceda Porto, Iago, 1986-; Børglum, Anders D.; Demontis, Ditte; Faraone, Stephen V.; Cormand, Bru; Lao Grueso, Oscar, 1976- (Nature Research, 2020)
    Attention-deficit/hyperactivity disorder (ADHD) is an impairing neurodevelopmental condition highly prevalent in current populations. Several hypotheses have been proposed to explain this paradox, mainly in the context of ...
  • Somatic mutations detected in Parkinson disease could affect genes with a role in synaptic and neuronal processes
    Lobon Garcia, Irene; Solís Moruno, Manuel, 1993-; Juan, David; Muhaisen, Ashraf; Abascal, Federico; Esteller Cucala, Paula; García Pérez, Raquel, 1989-; Martí, Maria José; Tolosa, Eduard; Ávila, Jesús; Rahbari, Raheleh; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran; Soriano, Eduardo (Frontiers, 2022)
    The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's ...
  • Spatiotemporal transcriptomic divergence across human and macaque brain development
    Zhu, Ying; Sousa, André M. M.; Gao, Tianliuyun; Skarica, Mario; Li, Mingfeng; Santpere Baró, Gabriel, 1981-; Esteller Cucala, Paula; Juan, David; Ferrández Peral, Luis, 1991-; Gulden, Forrest O.; Yang, Mo; Miller, Daniel J.; Marquès i Bonet, Tomàs, 1975-; Kawasawa, Yuka Imamura; Zhao, Hongyu; Sestan, Nenad (American Association for the Advancement of Science (AAAS), 2018)
    Human nervous system development is an intricate and protracted process that requires precise spatiotemporal transcriptional regulation. We generated tissue-level and single-cell transcriptomic data from up to 16 brain ...
  • Transcriptome innovations in primates revealed by single-molecule long-read sequencing
    Ferrández Peral, Luis, 1991-; Zhan, Xiaoyu; Zhan, Xiaoyu; Alvarez-Estape, Marina; Chiva, Cristina; Esteller Cucala, Paula; García Pérez, Raquel, 1989-; Julià, Eva; Lizano González, Esther, 1974-; Fornas Carreño, Oscar; Sabidó Aguadé, Eduard, 1981-; Li, Qiye; Marquès i Bonet, Tomàs, 1975-; Juan, David; Zhang, Guojie (Cold Spring Harbor Laboratory Press (CSHL Press), 2022)
    Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much of the actual isoform repertoire contributing to shaping primate evolution ...
  • Y chromosome sequence and epigenomic reconstruction across human populations
    Esteller Cucala, Paula; Palmada Flores, Marc; Kuderna, Lukas, 1989-; Fontseré Alemany, Clàudia, 1992-; Serres Armero, Aitor, 1992-; Dabad, Marc; Torralvo, María; Faella, Armida; Ferrández Peral, Luis, 1991-; Llovera Nadal, Laia; Fornas Carreño, Oscar; Julià, Eva; Ramírez, Erika; González, Irene; Hecht, Jochen; Lizano González, Esther, 1974-; Juan, David; Marquès i Bonet, Tomàs, 1975- (Nature Research, 2023)
    Recent advances in long-read sequencing technologies have allowed the generation and curation of more complete genome assemblies, enabling the analysis of traditionally neglected chromosomes, such as the human Y chromosome ...

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