Browsing by Author "Marquès i Bonet, Tomàs, 1975-"

Sort by: Order: Results:

  • Hernando Herráez, Irene, 1985-; Prado Martínez, Javier, 1987-; Garg, Paras; Fernández Callejo, Marcos; Heyn, Holger; Hvilsom, Christina; Navarro i Cuartiellas, Arcadi, 1969-; Esteller, Manel; Sharp, Andrew J.; Marquès i Bonet, Tomàs, 1975- (Public Library of Science (PLoS), 2013)
    DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, ...
  • Venkatesh, Byrappa; Lorente-Galdós, Belén, 1981-; Quilez Oliete, Javier; Marquès i Bonet, Tomàs, 1975-; Warren, Wesley C. (Nature Publishing Group, 2014)
    The emergence of jawed vertebrates (gnathostomes) from jawless vertebrates was accompanied by major morphological and physiological innovations, such as hinged jaws, paired fins and immunoglobulin-based adaptive immunity. ...
  • Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura; Solís Moruno, Manuel; Marquès i Bonet, Tomàs, 1975-; Bosch Fusté, Elena; Casals López, Ferran (Frontiers, 2018)
    Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on ...
  • Sudmant, Peter H.; Huddleston, John; Catacchio, Claudia R.; Malig, Maika; Hillier, LeDeana W.; Baker, Carl; Mohajeri, Kiana; Kondova, Ivanela; Bontrop, Ronald E.; Persengiev, Stephan; Antonacci, Francesca; Ventura, Mario; Prado Martínez, Javier, 1987-; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Project Great Ape Genome (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Copy number variation (CNV) contributes to disease and has restructured the genomes of great apes. The diversity and rate of this process, however, have not been extensively explored among great ape lineages. We analyzed ...
  • Brasó-Vives, Marina, 1990- (Universitat Pompeu Fabra, 2019-01-18)
    La duplicació és el principal mecanisme de formació de nou material genètic i d'innovació funcional. Entendre com les duplicacions sorgeixen, evolucionen, co-evolucionen i engendren noves funcions és essencial. Aquesta ...
  • Valles Ibáñez, Guillem de, 1986- (Universitat Pompeu Fabra, 2016-11-16)
    Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential truncation of ...
  • Giannuzzi, Giuliana; Siswara, Priscillia; Malig, Maika; Marquès i Bonet, Tomàs, 1975-; Mullikin, James C.; Ventura, Mario; Eichler, Evan E.; NISC Comparative Sequencing Program (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Core duplicons in the human genome represent ancestral duplication modules shared by the majority of intrachromosomal duplication blocks within a given chromosome. These cores are associated with the emergence of novel ...
  • Der Sarkissian, Clio; Lorente-Galdós, Belén, 1981-; Marquès i Bonet, Tomàs, 1975-; Orlando, Ludovic (Elsevier, 2015)
    Przewalski's horses (PHs, Equus ferus ssp. przewalskii) were discovered in the Asian steppes in the 1870s and represent the last remaining true wild horses. PHs became extinct in the wild in the 1960s but survived in ...
  • Hernando Herráez, Irene, 1985- (Universitat Pompeu Fabra, 2015-07-24)
    DNA methylation is a crucial epigenetic modification involved in numerous biological processes. However, despite its functional importance, the evolutionary history of this modification and the mechanisms diving such changes ...
  • García Pérez, Raquel, 1989- (Universitat Pompeu Fabra, 2019-01-29)
    The evolution of the human phenotype involved gene regulatory innovations. Comparative functional epigenomic studies are a powerful tool with potential to shed light on many long-standing questions regarding human evolution. ...
  • Staes, Nicky; Sherwood, Chet C.; Wright, Katharine; de Manuel, Marc; Guevara, Elaine E.; Marquès i Bonet, Tomàs, 1975-; Krützen, Michael; Massiah, Michael; Hopkins, William D.; Ely, John J.; Bradley, Brenda J. (Nature Publishing Group, 2017)
    The gene coding for the forkhead box protein P2 (FOXP2) is associated with human language disorders. Evolutionary changes in this gene are hypothesized to have contributed to the emergence of speech and language in the ...
  • Gallego Jiménez, Alicia, 1985-; Melé Messeguer, Marta, 1982-; Balcells, Ingrid; García Ramallo, Eva; Torruella Loran, Ignasi, 1987-; Fernández Bellon, Hugo; Abelló, Teresa; Kondova, Ivanela; Bontrop, Ronald E.; Hvilsom, Christina; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975-; Espinosa Parrilla, Yolanda, 1971- (Public Library of Science, 2016)
    microRNAs are crucial post-transcriptional regulators of gene expression involved in a wide range of biological processes. Although microRNAs are highly conserved among species, the functional implications of existing ...
  • Reich, David; Marquès i Bonet, Tomàs, 1975-; Pääbo, Svante (Nature Publishing Group, 2010)
    Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin ...
  • Manuel Montero, Marc de, 1991- (Universitat Pompeu Fabra, 2018-12-11)
    Els nostres parents més propers, els ximpanzés i els bonobos, tenen una història demogràfica complexa. En aquest estudi, hem analitzat els genomes sencers de 75 ximpanzés i bonobos nascuts en 10 països diferents d'Àfrica. ...
  • de Valles-Ibáñez, Guillem; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Luisi, Pierre, 1985-; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran (Oxford University Press, 2016)
    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species ...
  • Han, Sojung; Andrés Morán, Aida; Marquès i Bonet, Tomàs, 1975-; Kuhlwilm, Martin (Oxford University Press, 2019)
    Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives of humans, but the two species show distinct behavioral and physiological differences, particularly regarding female reproduction. ...
  • Freedman, Adam H; Lorente-Galdós, Belén, 1981-; Ramírez, Oscar; Marquès i Bonet, Tomàs, 1975-; Novembre, John (Public Library of Science (PLoS), 2014)
    To identify genetic changes underlying dog domestication and reconstruct their early evolutionary history, we generated high-quality genome sequences from three gray wolves, one from each of the three putative centers of ...
  • Mattle-Greminger, Maja P.; Bilgin Sonay, Tugce; Nater, Alexander; Pybus Oliveras, Marc, 1985-; Desai, Tariq; de Valles-Ibáñez, Guillem; Casals López, Ferran; Scally, Aylwyn; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975-; Van Schaik, Carel P.; Anisimova, Maria; Krützen, Michael (BioMed Central, 2018)
    Background: Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives, ...
  • Olalde Marquínez, Íñigo, 1987-; Sánchez Quinto, Federico A, 1985-; Datta, Debayan; Marigorta, Urko M.; Chiang, Charleston W.K.; Rodríguez, Juan Antonio; Fernández Callejo, Marcos; González Navarrete, Irene, 1983-; Montfort, Magda; Matas Lalueza, Laura; Civit, Sergi; Luiselli, Donata; Charlier, Philippe; Pettener, Davide; Ramírez, Oscar; Navarro i Cuartiellas, Arcadi, 1969-; Himmelbauer, Heinz; Marquès i Bonet, Tomàs, 1975-; Lalueza Fox, Carles, 1965- (Nature Publishing Group, 2014)
    A pyrographically decorated gourd, dated to the French Revolution period, has been alleged to contain a handkerchief dipped into the blood of the French king Louis XVI (1754–1793) after his beheading but recent analyses ...
  • Dobrynin, Pavel; Kuderna, Lukas F.K.; García Pérez, Raquel; de Manuel, Marc; Marquès i Bonet, Tomàs, 1975-; O’Brien, Stephen J. (BioMed Central, 2015)
    BACKGROUND: Patterns of genetic and genomic variance are informative in inferring population history for human, model species and endangered populations. RESULTS: Here the genome sequence of wild-born African cheetahs ...