Browsing by Author "Abril Ferrando, Josep Francesc"

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  • An assessment of gene prediction accuracy in large DNA sequences
    Guigó Serra, Roderic; Agarwal, Pankaj; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Fickett, James W. (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    One of the first useful products from the human genome will be a set of predicted genes. Besides its intrinsic scientific interest, the accuracy and completeness of this data set is of considerable importance for human ...
  • Comparative analysis of eukaryotic gene sequence features
    Abril Ferrando, Josep Francesc (Universitat Pompeu Fabra, 2005-05-17)
    L'incessant augment del nombre de seqüències genòmiques, juntament amb <br/>l'increment del nombre de tècniques experimentals de les que es disposa, <br/>permetrà obtenir el catàleg complet de les funcions cel.lulars de ...
  • Comparative gene prediction in human and mouse
    Parra Farré, Genís; Agarwal, Pankaj; Abril Ferrando, Josep Francesc; Wiehe, Thomas; Fickett, James W.; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2003)
    The completion of the sequencing of the mouse genome promises to help predict human genes with greater accuracy. While current ab initio gene prediction programs are remarkably sensitive (i.e., they predict at least a ...
  • Comparison of splice sites in mammals and chicken
    Abril Ferrando, Josep Francesc; Castelo Valdueza, Robert; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2005)
    We have carried out an initial analysis of the dynamics of the recent evolution of the splice-sites sequences on a large collection of human, rodent (mouse and rat), and chicken introns. Our results indicate that the ...
  • EGASP: the human ENCODE Genome Annotation Assessment Project
    Guigó Serra, Roderic; Flicek, Paul; Abril Ferrando, Josep Francesc; Reymond, Alexandre; Lagarde, Julien; Denoeud, France; Antonarakis, Stylianos E.; Ashburner, Michael; Bajic, Vladimir B.; Birney, Ewan; Castelo Valdueza, Robert; Eyras Jiménez, Eduardo; Ucla, Catherine; Gingeras, Thomas R.; Harrow, Jennifer; Hubbard, Tim J.; Lewis, Suzanna E.; Reese, Martin G. (BioMed Central, 2006)
    Background: We present the results of EGASP, a community experiment to assess the state-ofthe-/nart in genome annotation within the ENCODE regions, which span 1% of the human genome/nsequence. The experiment had two major ...
  • Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types
    Roca Ayats, Neus; Ng, Pei Ying; García-Giralt, Natalia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc; Quesada-Gómez, J.M.; Prieto-Alhambra, Daniel; Nogués Solan, Francesc Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg, Daniel; Balcells, Susana; Díez Pérez, Adolfo (Wiley, 2018)
    Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not always linked to bisphosphonate (BP) therapy. The pathogenic mechanisms underlying AFFs remain obscure, and there are no tests ...
  • Fusion of the human gene for the polyubiquitination co-effector UEV-1 with Kua, a newly identified gene
    Thomson, Timothy M.; Lozano, Juan José; Loukili, Noureddine; Carrió, Roberto; Serras Rigalt, Florenci; Cormand, Bru; Valeri, Marta; Díaz, Víctor M.; Abril Ferrando, Josep Francesc; Burset Albareda, Moisès; Merino, Jesús; Macaya, Alfons; Corominas Guiu, Montserrat; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2000)
    UEV proteins are enzymatically inactive variants of the E2 ubiquitin-conjugating enzymes that regulate noncanonical elongation of ubiquitin chains. In Saccharomyces cerevisiae, UEV is part of the RAD6-mediated error-free ...
  • Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment
    Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel (MDPI, 2022)
    Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a ...