2025-03-17 12:53 |
34 p, 5.5 MB |
A SIRT7-dependent acetylation switch regulates early B cell differentiation and lineage commitment through Pax5
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Gamez-Garcia, Andrés (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Espinosa-Alcantud, María Dolores (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bueno-Costa, Alberto (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Alari-Pahissa, Elisenda (Universitat Pompeu Fabra) ;
Marazuela-Duque, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Thackray, Joshua K. (Department of Genetics. Human Genetics Institute of New Jersey. Rutgers University) ;
Ray, Chandni (Department of Genetics. Human Genetics Institute of New Jersey. Rutgers University) ;
Berenguer, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Kumari, Poonam (Max Planck Institute for Heart and Lung Research) ;
Bech-Serra, Joan Josep (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Braun, Thomas (Max Planck Institute for Heart and Lung Research) ;
Ianni, Alessandro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Tischfield, Jay A (Department of Genetics. Human Genetics Institute of New Jersey. Rutgers University) ;
Serrano, Lourdes (Department of Genetics. Human Genetics Institute of New Jersey. Rutgers University) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Sardina, José Luis (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
De La Torre, Carolina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Sigvardsson, Mikael (Lund University) ;
Vazquez Prat, Berta Nieves (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Vaquero, Alejandro (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; et al Mostra tots els 20 autors
B lymphopoiesis is orchestrated by lineage-specific transcription factors. In B cell progenitors, lineage commitment is mediated by Pax5, which is commonly mutated in B cell acute lymphoblastic leukemia. [...]
2024 - 10.1038/s41590-024-01995-7
Nature immunology, Vol. 25, Núm. 12 (December 2024) , p. 2308-2319
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2025-03-17 12:53 |
30 p, 5.6 MB |
Histone variant macroH2A1 regulates synchronous firing of replication origins in the inactive X chromosome
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Arroyo, Maria (Technical University of Darmstadt) ;
Casas-Delucchi, Corella S. (Technical University of Darmstadt) ;
Pabba, Maruthi K. (Technical University of Darmstadt) ;
Prorok, Paulina (Technical University of Darmstadt) ;
Pradhan, Sunil K. (Technical University of Darmstadt) ;
Rausch, Cathia (Technical University of Darmstadt) ;
Lehmkuhl, Anne (Technical University of Darmstadt) ;
Maiser, Andreas (Faculty of Biology. Center for Molecular Biosystems (BioSysM). Human Biology and BioImaging. LMU Munich) ;
Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Pasque, Vincent (University of Leuven) ;
Bernstein, Emily (Icahn School of Medicine at Mount Sinai (Nova York, Estats Units d'Amèrica)) ;
Luck, Katja (Institute of Molecular Biology (IMB)) ;
Cardoso, M.Cristina (Technical University of Darmstadt) ; et al Mostra tots els 13 autors
MacroH2A has been linked to transcriptional silencing, cell identity, and is a hallmark of the inactive X chromosome (Xi). However, it remains unclear whether macroH2A plays a role in DNA replication. [...]
2024 - 10.1093/nar/gkae734
Nucleic acids research, Vol. 52, Núm. 19 (October 2024) , p. 11659-11688
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2025-03-17 12:53 |
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iSuRe-HadCre is an essential tool for effective conditional genetics
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Garcia-Gonzalez, Irene (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Rocha, Susana F. (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Hamidi, Anahita (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Garcia-Ortega, Lourdes (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Regano, Alvaro (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Sanchez-Muñoz, Maria S. (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Lytvyn, Mariya (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Garcia-Cabero, Aroa (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Roig-Soucase, Sergi (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ;
Schoofs, Hans (Uppsala University) ;
Castro, Marco (University of Medicine Berlin. Berlin Institute of Health at Charité) ;
Sabata Perez, Helena (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Potente, Michael (University of Medicine Berlin. Berlin Institute of Health at Charité) ;
Graupera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Makinen, Taija (University of Helsinki) ;
Benedito, Rui (Centro Nacional de Investigaciones cardiovasculares (CNIC)) ; et al Mostra tots els 16 autors
Methods for modifying gene function at high spatiotemporal resolution in mice have revolutionized biomedical research, with Cre-loxP being the most widely used technology. However, the Cre-loxP technology has several drawbacks, including weak activity, leakiness, toxicity, and low reliability of existing Cre-reporters. [...]
2024 - 10.1093/nar/gkae472
Nucleic acids research, Vol. 52, Núm. 13 (July 2024)
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2025-03-17 12:53 |
15 p, 2.4 MB |
Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging
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Rieckher, Matthias (University of Cologne) ;
Gallrein, Christian (University and University Hospital of Cologne) ;
Alquezar-Artieda, Natividad (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bourached-Silva, Nour (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Vaddavalli, Pavana Lakshmi (University and University Hospital of Cologne) ;
Mares, Devin (University and University Hospital of Cologne) ;
Backhaus, Maria (University and University Hospital of Cologne) ;
Blindauer, Timon (University and University Hospital of Cologne) ;
Greger, Ksenia (University and University Hospital of Cologne) ;
Wiesner, Eva (University and University Hospital of Cologne) ;
Pontel, Lucas B. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Schumacher, Björn (University of Cologne) ; et al Mostra tots els 12 autors
Formaldehyde (FA) is a recognized environmental and metabolic toxin implicated in cancer development and aging. Inherited mutations in the FA-detoxifying enzymes ADH5 and ALDH2 genes lead to FA overload in the severe multisystem AMeD syndrome. [...]
2024 - 10.1093/nar/gkae519
Nucleic acids research, Vol. 52, Núm. 14 (August 2024) , p. 8271-8285
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2025-02-27 06:46 |
17 p, 18.0 MB |
Targeting eEF1A reprograms translation and uncovers broad-spectrum antivirals against cap or m 6 A protein synthesis routes
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Molina Molina, Elisa (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Bech-Serra, Joan Josep (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Franco-Trepat, Eloi (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Jarne, Ignasi (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Perez-Zsolt, Daniel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Badia, Roger (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Riveira Muñoz, Eva (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García Vidal, Edurne (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Revilla, Lluís (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Franco Cirera, Sandra (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Tarrés-Freixas, Ferran (Universitat de Vic - Universitat Central de Catalunya) ;
Roca, Núria (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Ceada, Gerardo (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Kochanowski, Karl (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Raïch-Regué, Dàlia (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Erkizia, Itziar (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Boreika, Rytis (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Bordoy, Antoni E. (Institut Germans Trias i Pujol) ;
Soler, Laia (Institut Germans Trias i Pujol) ;
Guil, Sonia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Carrillo, Jorge (Instituto de Salud Carlos III) ;
Blanco, Julià (Instituto de Salud Carlos III) ;
Martinez, Miguel Angel (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Paredes, Roger (Case Western Reserve University School of Medicine) ;
Losada, Alejandro (Colmenar Viejo. PharmaMar S.A) ;
Avilés, Pablo (Colmenar Viejo. PharmaMar S.A) ;
Cuevas, Carmen (Colmenar Viejo. PharmaMar S.A) ;
Vergara-Alert, Júlia (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Segalés Coma, Joaquim (Universitat Autònoma de Barcelona. Departament de Sanitat i d'Anatomia Animals) ;
Clotet Sala, Bonaventura (Instituto de Salud Carlos III) ;
Ballana, Ester (Instituto de Salud Carlos III) ;
De La Torre Gómez, Gisela Carolina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Izquierdo Useros, Nuria (Instituto de Salud Carlos III) ; et al Mostra tots els 33 autors
Plitidepsin is an antitumoral compound safe for treating COVID-19 that targets the translation elongation factor eEF1A. Here we detect that plitidepsin decreases de novo cap-dependent translation of SARS-CoV-2 and non-viral RNAs but affects less than 13% of the host proteome, thus preserving cellular viability. [...]
2025 - 10.1038/s41467-025-56151-y
Nature communications, Vol. 16 (february 2025)
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2025-02-13 13:14 |
10 p, 3.5 MB |
SpadaHC : a database to improve the classification of variants in hereditary cancer genes in the Spanish population
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Moreno-Cabrera, José Marcos (Hospital Universitari de Bellvitge) ;
Feliubadaló, Lidia (Hospital Universitari de Bellvitge) ;
Pineda, Marta (Hospital Universitari de Bellvitge) ;
Prada-Dacasa, Patricia (Hospital Universitari de Bellvitge) ;
Ramos-Muntada, Mireia (Hospital Universitari de Bellvitge) ;
Del Valle, Jesús (Hospital Universitari de Bellvitge) ;
Brunet, Joan (Hospital Universitari de Bellvitge) ;
Gel, Bernat (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Currás-Freixes, M. (Instituto de Salud Carlos III) ;
Calsina, B. (Instituto de Salud Carlos III) ;
Salazar-Hidalgo, M.E. (Instituto de Salud Carlos III) ;
Rodríguez-Balada, M. (Universitat Rovira i Virgili) ;
Roig, B. (Universitat Rovira i Virgili) ;
Fernández-Castillejo, S. (Universitat Rovira i Virgili) ;
Domínguez, M.D. (Universidad de Valladolid) ;
Ledo, M.A. (Universidad de Valladolid) ;
Sanz, M.I. (Universidad de Valladolid) ;
Castillejo, A. (Hospital General Universitario de Elche) ;
Dámaso, E. (Hospital General Universitario de Elche) ;
Soto, J.L. (Hospital General Universitario de Elche) ;
de Miguel, M. (Hospital 12 de Octubre (Madrid)) ;
Calero, B.H. (Hospital 12 de Octubre (Madrid)) ;
Sánchez-Zapardiel, J.M. (Hospital 12 de Octubre (Madrid)) ;
Ramon y Cajal, Teresa (Institut de Recerca Sant Pau) ;
Lasa, Adriana (Institut de Recerca Sant Pau) ;
Gisbert-Beamud, A. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
López-Novo, A. (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Ruiz-Ponte, C. (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Potrony, Miriam (Hospital Clínic i Provincial de Barcelona) ;
Álvarez-Mora, María Isabel (Hospital Clínic i Provincial de Barcelona) ;
Osorio, A. (Hospital Universitario Fundación Jiménez Diaz (IIS-FJD)) ;
Lorda-Sánchez, I. (Hospital Universitario Fundación Jiménez Diaz (IIS-FJD)) ;
Robledo, M. (Centro Nacional de Investigaciones Oncológicas) ;
Cascón, A. (Centro Nacional de Investigaciones Oncológicas) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Spataro, Nino (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Hernan, I. (Molecular Genetics Unit) ;
Borràs, E. (Molecular Genetics Unit) ;
Moles-Fernández, Alejandro (Hospital Universitari Vall d'Hebron) ;
Earl, J. (Instituto Ramón y Cajal de Investigación Sanitaria)) ;
Cadiñanos, J. (Fundación Centro Médico de Asturias) ;
Sánchez-Heras, Ana Beatriz (Hospital General Universitario de Elche) ;
Bigas Salvans, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Capellá, G. (Instituto de Salud Carlos III) ;
Lázaro, C. (Instituto de Salud Carlos III) ;
Universitat Autònoma de Barcelona ; et al Mostra tots els 46 autors
Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. [...]
2024 - 10.1093/database/baae055
Database, Vol. 2024 (2024) , p. baae055
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2025-02-06 05:28 |
12 p, 477.1 KB |
Critical review of clinical data and expert-based recommendations for the use of bosutinib in the treatment of chronic myeloid leukemia
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García-Gutiérrez, Valentín (Universidad de Alcalá) ;
Gómez-Casares, María Teresa (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Casado-Montero, Felipe (Complejo Hospitalario de Toledo) ;
Ortí, Guillermo (Vall d'Hebron Institut d'Oncologia) ;
Giraldo, Pilar (Hospital Quironsalud (Saragossa)) ;
Hernandez-Boluda, Juan Carlos (Universitat de València) ; et al Mostra tots els 7 autors
Chronic myeloid leukemia (CML), characterized by the presence of the BCR::ABL1 fusion gene, has undergone a transformative shift with the introduction of tyrosine kinase inhibitors (TKIs). The current availability of six different TKIs (imatinib, dasatinib, nilotinib, bosutinib, ponatinib, and asciminib) in clinical practice makes it important to know their efficacy and toxicity profile for treatment optimization. [...]
2024 - 10.3389/fonc.2024.1405467
Frontiers in Oncology, Vol. 14 (august 2024)
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2025-01-24 04:17 |
9 p, 2.6 MB |
NSGS mice humanized with cord blood mononuclear cells show sustained and functional myeloid-lymphoid representation with limited graft-versus-host disease
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Panisello, Carla (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Aschero, Rosario (Institut de Recerca Sant Joan de Déu) ;
Martnez-Moreno, Alba (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Roca Ho, Heleia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Falgas, Aida (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
González-Navarro, Europa Azucena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Carabelli, Julieta (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Pradenas, Edwards (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Lázaro-Díez, María (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Prado, Julia G. (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Blanco, Julià (Universitat Autònoma de Barcelona) ;
Carrillo, Jorge (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Juan, Manel (August Pi i Sunyer Institute of Biomedical Research) ;
Carcaboso, Angel M (Institut de Recerca Sant Joan de Déu) ;
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Menéndez, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; et al Mostra tots els 16 autors
Humanized immunodeficient mice serve as critical models for investigating the functional interplay between transplanted human cells and a pre-reconstituted human immune system. These models facilitate the study of molecular and cellular pathogenic mechanisms and enable the evaluation of the efficacy and toxicity of immunotherapies, thereby accelerating their preclinical and clinical development. [...]
2024 - 10.1136/jitc-2024-009198
Journal for immunotherapy of cancer, Vol. 12 (october 2024)
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2025-01-18 04:02 |
13 p, 3.2 MB |
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants
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Castellini-Pérez, Olivia (Universidad de Granada) ;
Povedano, Elena (Universidad Autónoma de Madrid) ;
Barturen, Guillermo (Universidad de Granada) ;
Martínez-Bueno, Manuel (Universidad de Granada) ;
Iakovliev, Andrii (University of Edinburgh Medical School) ;
Kerick, Martin (Consejo Superior de Investigaciones Científicas (Espanya)) ;
López-Domínguez, Raúl (Universidad de Granada) ;
Marañón, Concepción (Universidad de Granada) ;
Martín, Javier (Consejo Superior de Investigaciones Científicas (Espanya)) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Borghi, María Orietta (Università degli Studi di Milano and Istituto Auxologico Italiano) ;
Qiu, Weiliang (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Zhu, Cheng (R&D. Sanofi, Precision Medicine & Computational Biology (Cambridge, Estats Units d'Amèrica)) ;
Shankara, Srinivas (R&D. Sanofi, Precision Medicine & Computational Biology (Cambridge, Estats Units d'Amèrica)) ;
Spiliopoulou, Athina (University of Edinburgh Medical School) ;
de Rinaldis, Emanuele (R&D. Sanofi, Precision Medicine & Computational Biology (Cambridge, Estats Units d'Amèrica)) ;
Carnero-Montoro, Elena (University of Granada) ;
Alarcón-Riquelme, Marta E (Karolinska Institutet. Institute for Environmental Medicine) ; et al Mostra tots els 18 autors
The heterogeneity of systemic lupus erythematosus (SLE) can be explained by epigenetic alterations that disrupt transcriptional programs mediating environmental and genetic risk. This study evaluated the epigenetic contribution to SLE heterogeneity considering molecular and serological subtypes, genetics and transcriptional status, followed by drug target discovery. [...]
2024 - 10.1038/s41525-024-00420-0
npj genomic medicine, Vol. 9 (july 2024)
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2024-12-16 12:41 |
15 p, 931.7 KB |
Prognostic Factors in Severe Eosinophilic Asthma in a Pediatric Population
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Padró-Casas, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Basagaña, Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Garcia-Olivé, Ignasi (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pollan Guisasola, Carlos (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Teniente Serra, Aina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez Cáceres, Eva María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Navarro, José-Tomás (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martínez Rivera, Carlos (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona.
Departament de Medicina ; et al Mostra tots els 10 autors
Background/Objectives: The objective of this study was to provide real-world data on prognostic factors in children with severe eosinophilic asthma and to assess biomarkers of outcome. Methods: Fifty-nine children (aged 6-17 years) were included in a prospective cohort attended in a Severe Asthma Unit of a tertiary care teaching hospital in Badalona (Barcelona, Spain) and visited at baseline and at 1-year follow-up. [...]
2024 - 10.3390/jcm13237202
Journal of clinical medicine, Vol. 13, Núm. 23 (November 2024)
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