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Browsing by Author "Navarro i Cuartiellas, Arcadi, 1969-"

Browsing by Author "Navarro i Cuartiellas, Arcadi, 1969-"

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  • Differences in molecular evolutionary rates among microRNAs in the human and chimpanzee genomes
    Santpere Baró, Gabriel, 1981-; López Valenzuela, María, 1982-; Petit-Marty, Natalia; Navarro i Cuartiellas, Arcadi, 1969-; Espinosa Parrilla, Yolanda, 1971- (BioMed Central, 2016)
    Background: The rise of the primate lineage is accompanied by an outstanding emergence of microRNAs, small non-coding RNAs with a prominent role in gene regulation. In spite of their biological importance little is known ...
  • Dynamics of DNA methylation in recent human and great ape evolution
    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, ...
  • Effect of collapsed duplications on diversity estimates: what to expect
    Hartasánchez Frenk, Diego Andrés, 1982-; Brasó-Vives, Marina, 1990-; Heredia Genestar, José María, 1985-; Pybus Oliveras, Marc, 1985-; Navarro i Cuartiellas, Arcadi, 1969- (Oxford University Press, 2018)
    The study of segmental duplications (SDs) and copy-number variants (CNVs) is of great importance in the fields of genomics and evolution. However, SDs and CNVs are usually excluded from genome-wide scans for natural ...
  • 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; Lobón, 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 history, genomic adaptation to toxic diet, and extinction of the Carolina Parakeet
    Gelabert Xirinachs, Pere, 1991-; Serres Armero, Aitor, 1992-; de Manuel, Marc; Renom, Pere; de Dios, Toni; Ferrando-Bernal, Manuel, 1990-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975-; Lalueza Fox, Carles, 1965- (Elsevier, 2020)
    As the only endemic neotropical parrot to have recently lived in the northern hemisphere, the Carolina parakeet (Conuropsis carolinensis) was an iconic North American bird. The last surviving specimen died in the Cincinnati ...
  • Expanding the geographic characterisation of epstein-barr virus variation through gene-based approaches
    Telford, Marco, 1984-; Hughes, David; Juan, David; Stoneking, Mark; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981- (MDPI, 2020)
    The Epstein-Barr Virus (EBV) infects the vast majority of human individuals worldwide (~90%) and is associated with several diseases, including different types of cancer and multiple sclerosis, which show wide variation ...
  • Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations
    Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Juan Sopeña, David Alejandro, 1975-; Navarro i Cuartiellas, Arcadi, 1969- (Nature Research, 2020)
    Mutations do not accumulate uniformly across the genome. Human germline and tumor mutation density correlate poorly, and each is associated with different genomic features. Here, we use non-human great ape (NHGA) germlines ...
  • Functional implications of human-specific changes in great ape microRNAs
    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 ...
  • GA4GH: International policies and standards for data sharing across genomic research and healthcare
    Rehm, Heidi L.; Beltran, Sergi; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Palumbo, Emilio; Rambla de Argila, Jordi; Birney, Ewan (Elsevier, 2021)
    The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. ...
  • Genetic and Clinical Factors Associated with Chronic Postsurgical Pain after Hernia Repair, Hysterectomy, and Thoracotomy: A Two-year Multicenter Cohort Study.
    Montes Pérez, Antonio; Roca, Gisela; Sabaté, Sergi; Lao, Jose Ignacio; Navarro i Cuartiellas, Arcadi, 1969-; Cantillo, Jordi; Canet, Jaume; GENDOLCAT Study Group (Lippincott, Williams & Wilkins, 2015)
    BACKGROUND: Chronic postsurgical pain (CPSP) has been linked to many surgical settings. The authors aimed to analyze functional genetic polymorphisms and clinical factors that might identify CPSP risk after inguinal hernia ...
  • Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples
    Mandage, Rajendra, 1984-; Telford, Marco, 1984-; Rodríguez, Juan Antonio; Farré, Xavier; Layouni, Hafid; Marigorta, Urko M.; Cundiff, Caitlin; Heredia Genestar, José María, 1985-; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981- (Public Library of Science (PLoS), 2017)
    Epstein-Barr virus (EBV), human herpes virus 4, has been classically associated with infectious mononucleosis, multiple sclerosis and several types of cancers. Many of these diseases show marked geographical differences ...
  • Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
    Ciampa, Iacopo; Operto, Grégory; Falcón, Carles; Minguillón, Carolina; Castro de Moura, Manuel; Piñeyro, David; Esteller, Manel; Molinuevo, José Luis; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Gispert López, Juan Domingo; Vilor Tejedor, Natàlia, 1988-; ALFA Study (MDPI, 2021)
    This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and ...
  • Genetic variation in the TP53 pathway and bladder cancer risk: a comprehensive analysis
    Pineda, Silvia; Milne, Roger L.; Calle, M. Luz; Rothman, Nathaniel; López De Maturana, Evangelina; Herranz, Jesús; Kogevinas, Manolis; Chanock, Stephen J.; Tardón, Adonina; Márquez, Mirari; Guey, Lin T.; García Closas, Montserrat; Lloreta Trull, Josep, 1958-; Baum, Erin; González Neira, Anna; Carrato, Alfredo; Navarro i Cuartiellas, Arcadi, 1969-; Silverman, Debra T.; Real, Francisco X.; Malats i Riera, Núria (Public Library of Science (PLoS), 2014)
    Introduction: Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway in cancer genetic susceptibility. However, variants in other ...
  • Genetically predicted telomere length and Alzheimer's disease endophenotypes: a Mendelian randomization study
    Rodríguez-Fernández, Blanca; Vilor Tejedor, Natàlia, 1988-; Arenaza Urquijo, Eider M.; Sánchez Benavides, Gonzalo; Suárez-Calvet, Marc; Operto, Grégory; Minguillón, Carolina; Navarro i Cuartiellas, Arcadi, 1969-; Gispert López, Juan Domingo; Sala Vila, Aleix; ALFA Study (BioMed Central, 2022)
    Telomere length (TL) is associated with biological aging, consequently influencing the risk of age-related diseases such as Alzheimer's disease (AD). We aimed to evaluate the potential causal role of TL in AD endophenotypes ...
  • Genetically predicted telomere length and its relationship with neurodegenerative diseases and life expectancy
    Rodríguez-Fernández, Blanca; Gispert López, Juan Domingo; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Vilor Tejedor, Natàlia, 1988-; Crous-Bou, Marta (Elsevier, 2022)
    Telomere length (TL) is a biomarker of biological aging. Shorter telomeres have been associated with mortality and increased rates of age-related diseases. However, observational studies are unable to conclude whether TL ...
  • Genome-wide analysis of wild-type epstein-barr virus genomes derived from healthy individuals of the 1000 genomes project
    Santpere Baró, Gabriel, 1981-; Darre, Fleur; Blanco, Soledad; Alcami, Antonio; Villoslada, Pablo; Albà Soler, Mar; Navarro i Cuartiellas, Arcadi, 1969- (Oxford University Press, 2014)
    Most people in the world (∼90%) are infected by the Epstein–Barr virus (EBV), which establishes itself permanently in B cells. Infection by EBV is related to a number of diseases including infectious mononucleosis, multiple ...
  • Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
    Karlsson Linnér, Richard; Gonzalez, Juan Ramon; Muntané, Gerard; Morcillo Suárez, Carlos, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Beauchamp, Jonathan P. (Nature Research, 2019)
    Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky ...
  • Genomic analysis of the blood attributed to Louis XVI (1754–1793), king of France
    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 ...
  • Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22
    González Neira, Anna; Calafell i Majó, Francesc; Navarro i Cuartiellas, Arcadi, 1969-; Lao Grueso, Oscar, 1976-; Cann, Howard M.; Comas, David, 1969-; Bertranpetit, Jaume, 1952- (BioMed Central, 2004)
    Recent studies of haplotype diversity in a number of genomic regions have suggested that long stretches of DNA are preserved in the same chromosome, with little evidence of recombination events. The knowledge of the extent ...
  • Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
    Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; Malig, Maika; Baker, Carl; Lee, Choli; Turner, Emily H.; Chen, Lin; Kidd, Jeffrey M.; Archidiacono, Nicoletta; Shendure, Jay; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2011)
    Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched ...