Browsing by Author "Bosch Fusté, Elena"

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  • Spataro, Nino (Universitat Pompeu Fabra, 2018-04-26)
    From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of ...
  • Caro Consuegra, Rocio; Lucas Sánchez, Marcel; Comas, David, 1969-; Bosch Fusté, Elena (Nature Research, 2023)
    Because of its location, North Africa (NA) has witnessed continuous demographic movements with an impact on the genomes of present-day human populations. Genomic data describe a complex scenario with varying proportions ...
  • Moreno Estrada, Andrés; Bosch Fusté, Elena; Stoneking, Mark; Bertranpetit, Jaume, 1952-; Calafell i Majó, Francesc; Navarro i Cuartiellas, Arcadi, 1969-; Casals López, Ferran; Tang, Kun; Marquès i Bonet, Tomàs, 1975-; Sikora, Martin, 1976- (Oxford University Press, 2009)
    Different signatures of natural selection persist over varying time scales in our genome, revealing possible episodes of adaptative evolution during human history. Here, we identify genes showing signatures of ancestral ...
  • Bosch Fusté, Elena (Institut d’Estudis Catalans, 2021)
    Identificar què ens fa humans i comprendre les bases genètiques de la nostra singularitat són qüestions d’interès i debat continuat en biologia. Mitjançant l’anàlisi de dades genòmiques podem detectar la petjada de la ...
  • Buxadé Fortuny, Maria; Huerga Encabo, Hector, 1989-; Riera-Borrull, Marta; Quintana-Gallardo, Lucía; López-Cotarelo, Pilar; Tellechea Recarte, Mónica, 1989-; Martínez-Martínez, Sara; Redondo, Juan Miguel; Martín Caballero, Juan; Flores, Juana M.; Bosch Fusté, Elena; Rodríguez-Fernández, José Luis; Aramburu, José (Aramburu Beltrán); López Rodríguez, M. Cristina (Rockefeller University Press, 2018)
    MHCII in antigen-presenting cells (APCs) is a key regulator of adaptive immune responses. Expression of MHCII genes is controlled by the transcription coactivator CIITA, itself regulated through cell type-specific promoters. ...
  • Spataro, Nino, 1984-; Calafell i Majó, Francesc; Cervera-Carles, Laura; Casals López, Ferran; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Lleó, Alberto; Navarro i Cuartiellas, Arcadi, 1969-; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Oxford University Press, 2015)
    Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association ...
  • Urnikyte, Alina; Flores-Bello, André; Mondal, Mayukh, 1989-; Molyte, Alma; Comas, David, 1969-; Calafell i Majó, Francesc; Bosch Fusté, Elena; Kučinskas, Vaidutis (Nature Research, 2019)
    The analysis of geographically specific regions and the characterization of fine-scale patterns of genetic diversity may facilitate a much better understanding of the microevolutionary processes affecting local human ...
  • Muntané, Gerard; Vázquez-Bourgon, Javier; Sada, Ester; Martorell, Lourdes; Papiol, Sergi; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Crespo-Facorro, Benedicto; Vilella, Elisabet (Cambridge University Press, 2023)
    Background: Individuals with a first episode of psychosis (FEP) show rapid weight gain during the first months of treatment, which is associated with a reduction in general physical health. Although genetics is assumed to ...
  • Spataro, Nino, 1984-; Rodríguez, Juan Antonio; Navarro i Cuartiellas, Arcadi, 1969-; Bosch Fusté, Elena (Oxford University Press, 2017)
    Do genes presenting variation that has been linked to human disease have different biological properties than genes that have never been related to disease? What is the relationship between disease and fitness? Are the ...
  • Marigorta, Urko M.; Lao Grueso, Oscar, 1976-; Casals López, Ferran; Calafell i Majó, Francesc; Morcillo Suárez, Carlos, 1969-; Faria, Rui; Bosch Fusté, Elena; Serra, François; Bertranpetit, Jaume, 1952-; Dopazo, Hernán; Navarro i Cuartiellas, Arcadi, 1969- (BioMed Central, 2011)
    Background: Searching for associations between genetic variants and complex diseases has been a very active area of research for over two decades. More than 51,000 potential associations have been studied and published, a ...
  • Engelken, Johannes; Espadas, Guadalupe; Mancuso, Francesco M.; Bonet, Núria; Scherr, Anna-Lena; Jímenez Álvarez, Victoria; Codina i Solà, Marta, 1988-; Medina Stacey, Daniel; Spataro, Nino, 1984-; Stoneking, Mark; Calafell i Majó, Francesc; Sabidó Aguadé, Eduard, 1981-; Bosch Fusté, Elena (Oxford University Press, 2016)
    Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health and disease, and they are tightly regulated in the human body. In order to assess variability and potential adaptive ...
  • Moreno Estrada, Andrés; Casals López, Ferran; Ramírez Soriano, Anna; Oliva Miguel, Baldomero; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952-; Bosch Fusté, Elena (Oxford University Press, 2008)
    The human olfactory receptor repertoire is reduced in comparison to other mammals/nand to other non-human primates. Nonetheless, this olfactory decline opens an opportunity for/nevolutionary innovation and improvement. In ...
  • Laayouni, Hafid, 1968-; Montanucci, Ludovica, 1978-; Sikora, Martin, 1976-; Melé Messeguer, Marta, 1982-; Dall'Olio, Giovanni Marco, 1983-; Lorente-Galdós, Belén, 1981-; McGee, Kate M; Graffelman, Jan; Awadalla, Philip; Bosch Fusté, Elena; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Calafell i Majó, Francesc; Casals López, Ferran; Bertranpetit, Jaume, 1952- (Public Library of Science (PLoS), 2011)
    Recombination varies greatly among species, as illustrated by the poor conservation of the recombination landscape between humans and chimpanzees. Thus, shorter evolutionary time frames are needed to understand the evolution ...
  • Gil-Varea, Elia; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (Wiley, 2020)
    Although genome-wide association studies have identified a number of common variants associated with multiple sclerosis (MS) susceptibility, little is known about the relevance of rare variants. Here, we aimed to explore ...
  • Rodríguez Pérez, Juan Antonio (Universitat Pompeu Fabra, 2018-06-01)
    Old age comes coupled with frailty and disease and, thus, the ageing of the World’s population have spurred the interest on the causes and mechanisms of senescence. Senescence has long been a mystery, with no single ...
  • Font-Porterias, Neus; Caro Consuegra, Rocio; Lucas Sánchez, Marcel; López, Marie; Giménez, Aaron; Carballo Mesa, Annabel; Bosch Fusté, Elena; Calafell i Majó, Francesc; Quintana Murci, Lluis; Comas, David, 1969- (Oxford University Press, 2021)
    Demographic history plays a major role in shaping the distribution of genomic variation. Yet the interaction between different demographic forces and their effects in the genomes is not fully resolved in human populations. ...
  • Roca-Umbert Würth, Ana (2022-01-10)
    Zinc is an essential micronutrient involved in many different biological processes. Zinc homeostasis is mainly regulated by 24 zinc transporters coded by the Zinc Transporter Genes (ZTGs). Notably, zinc body content is ...
  • Dobón Berenguer, Begoña, 1987-; Ter Horst, Rob; Laayouni, Hafid, 1968-; Mondal, Mayukh, 1989-; Bianco, Erica; Comas, David, 1969-; Ioana, Mihai; Bosch Fusté, Elena; Bertranpetit, Jaume, 1952-; Netea, Mihai G (Nature Research, 2020)
    Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded ...
  • Muntané, Gerard; Farré, Xavier; Bosch Fusté, Elena; Martorell, Lourdes; Navarro i Cuartiellas, Arcadi, 1969-; Vilella, Elisabet (Springer, 2021)
    Psychiatric disorders such as Schizophrenia (SCZ) and Bipolar Disorder (BD) represent an evolutionary paradox, as they exhibit strong negative effects on fitness, such as decreased fecundity and early mortality, yet they ...
  • Caro Consuegra, Rocio; Nieves-Colón, Maria A.; Rawls, Erin; Rubin-de-Celis, Verónica; Lizárraga, Beatriz; Vidaurre, Tatiana; Sandoval Mendoza, Karla; Fejerman, Laura; Stone, Anne C.; Moreno Estrada, Andrés; Bosch Fusté, Elena (Oxford University Press, 2022)
    Peru hosts extremely diverse ecosystems which can be broadly classified into the following three major ecoregions: the Pacific desert coast, the Andean highlands, and the Amazon rainforest. Since its initial peopling ...

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