Browsing by Author "Batlle Masó, Laura, 1993-"

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  • Assessment of the gene mosaicism burden in blood and its implications for immune disorders
    Solís Moruno, Manuel, 1993-; Mensa Vilaró, Anna; Batlle Masó, Laura, 1993-; Lobón, Irene; Bonet, Núria; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2021)
    There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, ...
  • Dynamic chromatin association of IκBα is regulated by acetylation and cleavage of histone H4
    Marruecos, Laura; Bertran, Joan; Álvarez-Villanueva, Daniel; Mulero, María Carmen; Guillén, Yolanda; Palma, Luis G.; Floor, Martin; Vert, Anna; Arce-Gallego, Sara; Pecharroman, Irene; Batlle Masó, Laura, 1993-; Villà i Freixa, Jordi; Ghosh, Gourisankar; Bigas Salvans, Anna; Espinosa Blay, Lluís (Wiley, 2021)
    IκBs exert principal functions as cytoplasmic inhibitors of NF-kB transcription factors. Additional roles for IκB homologues have been described, including chromatin association and transcriptional regulation. Phosphorylated ...
  • Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond
    Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura, 1993-; Solís Moruno, Manuel, 1993-; 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 ...
  • FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis
    Viñas Giménez, Laura; Padilla, Natàlia; Batlle Masó, Laura, 1993-; Casals López, Ferran; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la; Colobran, Roger (Frontiers, 2020)
    Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples ...
  • Flow sorting enrichment and nanopore sequencing of chromosome 1 from a Chinese individual
    Kuderna, Lukas F.K.; Solís Moruno, Manuel, 1993-; Batlle Masó, Laura, 1993-; Julià, Eva; Lizano González, Esther, 1974-; Anglada Busquets, Roger; Ramírez Bautista, Eva; Bote, Alex; Tormo, Marc; Marquès i Bonet, Tomàs, 1975-; Fornas Carreño, Oscar; Casals López, Ferran (Frontiers Media, 2020)
    Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a ...
  • Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
    Batlle Masó, Laura, 1993-; Mensa Vilaró, Anna; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Elsevier, 2020)
    Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the ...
  • Genomics of immune disease : exploring the genetic mechanisms underlying primary immunodeficiencies
    Batlle Masó, Laura, 1993- (2021-03-05)
    Des de l’aparició de les eines de seqüenciació genòmica, el genoma humà s’ha explorat per a trobar variants causants de malaltia. Les malalties són diverses, i conseqüentment, també ho són les seves causes, això fa que no ...
  • Somatic genetic variation in healthy tissue and non-cancer diseases
    Solís Moruno, Manuel, 1993-; Batlle Masó, Laura, 1993-; Bonet, Núria; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2023)
    Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in ...
  • Volumetric imaging of fast cellular dynamics with deep learning enhanced bioluminescence microscopy
    Morales-Curiel, Luis Felipe; Gonzalez, Adriana Carolina; Castro-Olvera, Gustavo; Lin, Li-Chun Lynn; El-Quessny, Malak; Porta-de-la-Riva, Montserrat; Severino, Jacqueline, 1990-; Batlle Masó, Laura, 1993-; Venturini, Valeria; Ruprecht, Verena; Ramallo, Diego; Loza-Alvarez, Pablo; Krieg, Michael (Nature Research, 2022)
    Bioluminescence microscopy is an appealing alternative to fluorescence microscopy, because it does not depend on external illumination, and consequently does neither produce spurious background autofluorescence, nor perturb ...