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25 p, 1.8 MB

Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals / Dámaso, Estela (Hospital Universitari de Bellvitge) ; González-Acosta, Maribel (Hospital Universitari de Bellvitge) ; Vargas-Parra, Gardenia (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Hospital Universitari de Bellvitge) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Tuset, N. (Hospital Arnau de Vilanova (València)) ; Thompson, B.A. (University of Melbourne) ; Marín, Fátima (Hospital Universitari de Bellvitge) ; Fernández, Anna (Hospital Universitari de Bellvitge) ; Gómez, Carolina (Hospital Universitari de Bellvitge) ; Velasco, À. (Institut d'Investigació Biomèdica (Girona)) ; Solanes, Ares (Hospital Universitari de Bellvitge) ; Iglesias, Sílvia (Hospital Universitari de Bellvitge) ; Urgel, G. (Hospital Arnau de Vilanova (València)) ; López, Consol (Institut d'Investigació Biomèdica Sant Pau) ; Valle, Jesus Del (Hospital Universitari de Bellvitge) ; Campos, Olga (Hospital Universitari de Bellvitge) ; Santacana, M. (Institut de Recerca Biomèdica de Lleida (IRB Lleida)) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ; Valle, Laura (Hospital Universitari de Bellvitge) ; Brunet, Joan (Hospital Universitari de Bellvitge) ; Pineda, Marta (Hospital Universitari de Bellvitge) ; Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ; Universitat Autònoma de Barcelona
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. [...]
2020 - DOI (Digital Object Identifier)

10.3390/cancers12071799
Cancers, Vol. 12 Núm. 7 (july 2020) , p. 1-32

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10 p, 860.0 KB

Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 / Solanich, Xavier (Hospital Universitari de Bellvitge) ; Vargas-Parra, Gardenia (Centro de Investigación Biomédica en Red de Cáncer) ; Van der Made, Caspar I oud (University Medical Center) ; Schuurs-Hoeijmakers, Janneke (Radboud University Medical Center) ; Antolí, Arnau (Hospital Universitari de Bellvitge) ; Del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Rocamora-Blanch, Gemma (Hospital Universitari de Bellvitge) ; Setién, Fernando (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Van Reijmersdal, Simon V (Radboud University Medical Center) ; Riera Mestre, Antoni (Universitat de Barcelona) ; Sabater-Riera, Joan (Hospital Universitari de Bellvitge) ; Capellá, G. (Gabriel) (Centro de Investigación Biomédica en Red de Cáncer) ; Van de Veerdonk, Frank L v (Radboud University Medical Center) ; Van der Hoven, Ben (Erasmus MC) ; Corbella, Xavier (Universitat Internacional de Catalunya) ; Hoischen, Alexander (Radboud University Medical Center) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer)
Introduction: Loss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare variants in young men with severe COVID-19. [...]
2021 - DOI (Digital Object Identifier)

10.3389/fimmu.2021.719115
Frontiers in immunology, Vol. 12 (23 2021) , p. 719115

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