Browsing by Author "Bosch Fusté, Elena"

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  • Gil-Varea, Elia; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (MDPI, 2020)
    Genome-wide association studies and meta-analysis have contributed to the identification of more than 200 loci associated with multiple sclerosis (MS). However, a proportion of MS heritability remains unknown. We aimed to ...
  • Walsh Capdevila, Sandra, 1991-; Izquierdo Serra, Mercè; Acosta, Sandra; Edo, Albert; Lloret, María; Moret, Roser; Bosch Fusté, Elena; Oliva Miguel, Baldomero; Bertranpetit, Jaume, 1952-; Fernández-Fernández, José Manuel, 1967- (Nature Research, 2020)
    TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. TRPP3 had been considered a candidate for sour sensor in humans, due to its high ...
  • Moreno Estrada, Andrés; Aparicio i Prat, Estel, 1986-; Sikora, Martin, 1976-; Engelken, Johannes; Ramírez Soriano, Anna; Calafell i Majó, Francesc; Bosch Fusté, Elena (BioMed Central, 2010)
    Background: The human FOXI1 gene codes for a transcription factor involved in the physiology of the inner ear, testis, and kidney. Using three interspecies comparisons, it has been suggested that this may be a gene ...
  • Cenit, Maria Carmen; Martínez-Florensa, Mario; Consuegra, Marta; Bonet, Lizette; Carnero-Montoro, Elena, 1985-; Armiger, Noelia; Caballero-Baños, Miguel; Arias, Maria Teresa; Benítez, Daniel; Ortego-Centeno, Norberto; Ramón, Enrique de; Sabio, José Mario; García-Hernández, Francisco J.; Tolosa, Carles; Suárez, Ana; González-Gay, Miguel; Bosch Fusté, Elena; Martín, Javier; Lozano, Francisco (Public Library of Science (PLoS), 2014)
    Objective: CD5 plays a crucial role in autoimmunity and is a well-established genetic risk factor of developing RA. Recently, evidence of positive selection has been provided for the CD5 Pro224-Val471 haplotype in East ...
  • Santpere Baró, Gabriel, 1981-; Carnero-Montoro, Elena, 1985-; Petit, Natalia; Serra, François; Hvilsom, Christina; Rambla de Argila, Jordi; Heredia Genestar, José María, 1985-; Halligan, Daniel L.; Dopazo, Hernán; Navarro i Cuartiellas, Arcadi, 1969-; Bosch Fusté, Elena (Oxford University Press, 2015)
    We set out to investigate potential differences and similarities between the selective forces acting upon the coding and noncoding regions of five different sets of genes defined according to functional and evolutionary ...
  • Moreno Estrada, Andrés (Universitat Pompeu Fabra, 2009-04-21)
    Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic ...
  • Casadó Llombart, Sergi; Velasco de Andrés, María; Català, Cristina; Leyton Pereira, Alejandra; Lozano, Francisco; Bosch Fusté, Elena (MDPI, 2021)
    Pathogens are one of the main selective pressures that ancestral humans had to adapt to. Components of the immune response system have been preferential targets of natural selection in response to such pathogen-driven ...
  • Gazave, Elodie; Darre, Fleur; Morcillo Suárez, Carlos, 1969-; Petit, Natalia; Carreño Torres, Angel; Marigorta, Urko M.; Ryder, Oliver A.; Blancher, Antoine; Rocchi, Mariano; Bosch Fusté, Elena; Baker, Carl; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Navarro i Cuartiellas, Arcadi, 1969- (Cold Spring Harbor Laboratory Press (CSHL Press), 2011)
    Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV ...
  • Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos, 1969-; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • Bosch Fusté, Elena (Universitat Pompeu Fabra, 2000-02-18)
    S'ha estudiat la variabilitat genètica de les poblacions del nord d'Àfrica a partir de l'anàlisi de diverses regions genòmiques per tal d'entendre les poblacions analitzades d'una banda, i comprendre la dinàmica del genoma ...
  • Spataro, Nino, 1984-; Farfán, Maribel; Albarral, Vicenta; Sanglas, Ariadna; Lorén, J. Gaspar; Fusté, Mª Carme; Bosch Fusté, Elena (American Society for Microbiology, 2013)
    We report here the draft genome sequence of Aeromonas molluscorum 848T, the type strain of this Aeromonas species, which was isolated from wedge shells (Donax trunculus) obtained from a retail market in Barcelona, Spain, in 1997.
  • Farfán, Maribel; Spataro, Nino, 1984-; Sanglas, Ariadna; Albarral, Vicenta; Lorén, J. Gaspar; Bosch Fusté, Elena; Fusté, Mª Carme (American Society for Microbiology, 2013)
    We present here the first genome sequence of the Aeromonas diversa type strain (CECT 4254(T)). This strain was isolated from the leg wound of a patient in New Orleans (Louisiana) and was originally described as enteric ...
  • 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 ...
  • Engelken, Johannes; Carnero-Montoro, Elena, 1985-; Pybus Oliveras, Marc, 1985-; Andrews, Glen K.; Lalueza Fox, Carles, 1965-; Comas, David, 1969-; Sekler, Israel; de la Rasilla, Marco; Rosas, Antonio; Stoneking, Mark; Valverde, M. A. (Miguel Ángel), 1963-; Vicente García, Rubén, 1978-; Bosch Fusté, Elena (Public Library of Science (PLoS), 2014)
    Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was ...
  • Carnero-Montoro, Elena, 1985- (Universitat Pompeu Fabra, 2013-10-25)
    The genetic basis of phenotypes that have contributed to the adaptation of species and organisms to new environments is a central question in evolutionary genetics. The recent accumulation of genetic variability data has ...
  • Spataro, Nino, 1984- (Universitat Pompeu Fabra, 2016-10-26)
    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 ...
  • 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 ...
  • 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 ...