Browsing by Author "Solís Moruno, Manuel, 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, ...
  • 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 ...
  • 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 ...
  • Novel genetic mechanisms in autoinflammatory diseases : Contribution of somatic and germline variation
    Solís Moruno, Manuel, 1993- (2021-10-27)
    Autoinflammatory diseases are caused by an antigen independent hyperactivation of inflammatory pathways. The first genetic defect linked to an autoinflammatory disease was described almost 25 years ago and, since then, the ...
  • Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation
    Solís Moruno, Manuel, 1993-; de Manuel, Marc; Hernández Rodríguez, Jéssica, 1983-; Fontsere, Claudia; Gomara Castaño, Alba; Valsera-Naranjo, Cristina; Crailsheim, Dietmar; Navarro i Cuartiellas, Arcadi, 1969-; Llorente, Miquel; Riera, Laura; Feliu Olleta, Olga; Marquès i Bonet, Tomàs, 1975- (Nature Publishing Group, 2017)
    The genus Pan is the closest related to humans (Homo sapiens) and it includes two species: Pan troglodytes (chimpanzees) and Pan paniscus (bonobos). Different characteristics, some of biomedical aspect, separate them from ...
  • 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 ...
  • Somatic mutations detected in Parkinson disease could affect genes with a role in synaptic and neuronal processes
    Lobon, Irene; Solís Moruno, Manuel, 1993-; Juan, David; Muhaisen, Ashraf; Abascal, Federico; Esteller Cucala, Paula; García Pérez, Raquel, 1989-; Martí, Maria Josep; Tolosa, Eduard; Ávila, Jesús; Rahbari, Raheleh; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran; Soriano, Eduardo (Frontiers, 2022)
    The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's ...