TitleDateAuthorsDOI
Transcriptional reprogramming triggered by neonatal UV radiation or Lkb1 loss prevents BRAFV600E-induced growth arrest in melanocytes2025-06-11Mcgrail, K; Granado-Martínez, P; Orsenigo, R; Caratù, G; Nieto, P; Heyn, H; Ferrer, B; Hernández-Losa, J; Muñoz-Couselo, E; García-Patos, V; Recio, JAhttps://doi.org/10.1038/s41388-025-03339-7
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience2025-06-05Ratnaike, T; Paramonov, I; Olimpio, C; Hoischen, A; Beltran, S; Matalonga, L; Horváth, Rhttps://doi.org/10.1016/j.ajhg.2025.04.003
Co-opted and canonical glycerol channels play a major role during anhydrobiosis of an extremophile crustacean2025-06-03Rey-Alfonso, A; Maestro, JL; Chauvigné, F; Gómez-Garrido, J; Alioto, T; Bossier, P; Finn, RN; Cerdà, Jhttps://doi.org/10.1186/s12915-025-02262-3
Inactivated Rothia nasimurium promotes a persistent antiviral immune status in porcine alveolar macrophages2025-06-03Tort-Miró, A; Alonso, U; Martín-Mur, B; Muñoz-Basagoiti, J; Zeng, Y; Marín-Moraleda, D; Ezcurra, E; Montaner-Tarbes, S; Navas, MJ; Muñoz, M; Monleón, P; González-Oliver, J; Cano, E; Vilalta, C; Caballé, M; Criado, L; Kochanowski, K; Accensi, F; Aragón, V; Correa-Fiz, F; Esteve-Codina, A; Rodríguez, F; Argilaguet, Jhttps://doi.org/10.3389/fimmu.2025.1584092
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption2025-06-01Nava, C; Cogne, B; Santini, A; Leitao, E; Lecoquierre, F; Chen, YY; Stenton, SL; Besnard, T; Heide, S; Baer, S; Jakhar, A; Neuser, S; Keren, B; Faudet, A; Forlani, S; Faoucher, M; Uguen, K; Platzer, K; Afenjar, A; Alessandri, JL; Andres, S; Angelini, C; Aral, B; Arveiler, B; Attie-Bitach, T; Mucca, MA; Banneau, G; Barakat, TS; Barcia, G; Baulac, S; Beneteau, C; Benkerdou, F; Bernard, V; Bézieau, S; Bonneau, D; Bonnet-Dupeyron, MN; Boussion, S; Boute, O; Brischoux-Boucher, E; Bryen, SJ; Buratti, J; Busa, T; Caliebe, A; Capri, Y; Cassinari, K; Caumes, R; Cenni, C; Chambon, P; Charles, P; Christodoulou, J; Colson, C; Conrad, S; Cospain, A; Coursimault, J; Courtin, T; Couse, M; Coutton, C; Creveaux, I; D'Gama, AM; Dauriat, B; de Sainte Agathe, JM; Del Gobbo, G; Delahaye-Duriez, A; Delanne, J; Denommé-Pichon, AS; Dieux-Coeslier, A; Ferreira, LD; Doco-Fenzy, M; Drukewitz, S; Duboc, V; Dubourg, C; Duffourd, Y; Dyment, D; El Chehadeh, S; Elmaleh, M; Faivre, L; Fennelly, S; Fischer, H; Fradin, M; Vaillant, CG; Ganne, B; Ghoumid, J; Goel, H; Gokce-Samar, Z; Goldenberg, A; Robert, RG; Gorokhova, S; Goujon, L; Granier, V; Gras, M; Greally, JM; Greiten, B; Gueguen, P; Guerrot, AM; Guha, S; Guimier, A; Haack, TB; Abdallah, HH; Halleb, Y; Harbuz, R; Harris, M; Hentschel, J; Héron, B; Hitz, MP; Innes, AM; Jadas, V; Januel, L; Jean-Marçais, N; Jobanputra, V; Jobic, F; Jornea, L; Jost, C; Julia, S; Kaiser, FJ; Kaschta, D; Kaya, S; Ketteler, P; Khadija, B; Kilpert, F; Knopp, C; Kraft, F; Krey, I; Lackmy, M; Laffargue, F; Lambert, L; Lamont, R; Laugel, V; Laurie, S; Lauzon, JL; Lebreton, L; Lebrun, M; Legendre, M; Leguern, E; Lehalle, D; Lejeune, E; Lesca, G; Lesieur-Sebellin, M; Levy, J; Linglart, A; Lyonnet, S; Luethy, K; Ma, AS; Mach, C; Mandel, JL; Mansour-Hendili, L; Marcadier, J; Marin, V; Margot, H; Marquet, V; May, A; Mayr, JA; Meridda, C; Michaud, V; Michot, C; Nadeau, G; Naudion, S; Nguyen, L; Nizon, M; Nowak, F; Odent, S; Olin, V; Osei-Owusu, IA; Osmond, M; Ounap, K; Pasquier, L; Passemard, S; Pauly, M; Patat, O; Pensec, M; Perrin-Sabourin, L; Petit, F; Philippe, C; Planes, M; Poduri, A; Poirsier, C; Pouzet, A; Prince, B; Prouteau, C; Pujol, A; Racine, C; Rama, M; Ramond, F; Ranguin, K; Raway, M; Reis, A; Renaud, M; Revencu, N; Richard, AC; Riera-Navarro, L; Rius, R; Rodriguez, D; Rodriguez-Palmero, A; Rondeau, S; Roser-Unruh, A; Jung, CR; Safraou, H; Satre, V; Saugier-Veber, P; Sauvestre, C; Schaefer, E; Shao, WQ; Schanze, I; Schlump, JU; Martin, AS; Schluth-Bolard, C; Schuhmann, S; Schröder, C; Sebastin, M; Sigaudy, S; Spielmann, M; Spodenkiewicz, M; St Clair, L; Steffann, J; Stoeva, R; Surowy, H; Tarnopolsky, MA; Todosi, C; Toutain, A; Mau-Them, FT; Unterlauft, A; Van-Gils, J; Vanlerberghe, C; Vasileiou, G; Vera, G; Verdel, A; Verloes, A; Vial, Y; Vignal, C; Vincent, M; Vincent-Delorme, C; Vincent-Devulder, A; Vitobello, A; Weber, S; Willems, M; Zaafrane-Khachnaoui, K; Zacher, P; Zeltner, L; Ziegler, A; Galej, WP; Dollfus, H; Thauvin, C; Boycott, KM; Marijon, P; Lermine, A; Malan, V; Rio, M; Kuechler, A; Isidor, B; Drunat, S; Smol, T; Chatron, N; Piton, A; Nicolas, G; Wagner, M; Abou Jamra, R; Héron, D; Mignot, C; Blanc, P; O'Donnell-Luria, A; Whiffin, N; Charbonnier, C; Charenton, C; Thevenon, J; Depienne, Chttps://doi.org/10.1038/s41588-025-02184-4
Sex-and age-dependent neurovascular abnormalities linked to neuroinflammation lead to exacerbated post-ischemic brain injury in Marfan syndrome mice2025-06-01Manich, G; Pérez, B; Penas, C; Dantas, AP; Coutinho, J; Sánchez-Bernadó, P; García-Aranda, J; Fraile-Ramos, J; Benseny-Cases, N; Martín-Mur, B; Esteve-Codina, A; Rodríguez-Rovira, I; Giménez-Llort, L; Egea, G; Jiménez-Altayó, Fhttps://doi.org/10.1016/j.redox.2025.103662
Enamel proteins reveal biological sex and genetic variability in southern African Paranthropus2025-05-29Madupe, PP; Koenig, C; Patramanis, I; Rüther, PL; Hlazo, N; Mackie, M; Tawane, M; Krueger, J; Taurozzi, AJ; Troché, G; Kibii, J; Pickering, R; Dickinson, MR; Sahle, Y; Kgotleng, D; Musiba, C; Manthi, F; Bell, L; DuPlessis, M; Gilbert, C; Zipfel, B; Kuderna, LFK; Lizano, E; Welker, F; Kyriakidou, P; Cox, J; Mollereau, C; Tokarski, C; Blackburn, J; Ramos-Madrigal, J; Marques-Bonet, T; Penkman, K; Zanolli, C; Schroeder, L; Racimo, F; Olsen, JV; Ackermann, RR; Cappellini, Ehttps://doi.org/10.1126/science.adt9539
Dual biological role and clinical impact of de novo chromatin activation in chronic lymphocytic leukemia2025-05-22Chapaprieta, V; Maiques-Diaz, A; Nadeu, F; Clot, G; Massoni-Badosa, R; Mozas, P; Mateos-Jaimez, J; Vidal, A; Charalampopoulou, S; Duran-Ferrer, M; Royo, R; Russiñol, N; Llaó-Cid, L; Piñeyroa, JA; Villamor, N; Heyn, H; Herbst, SA; Lu, JY; Bryant, DJ; Strefford, JC; Dietrich, S; Zenz, T; Delgado, J; Lopez-Guillermo, A; Campo, E; Martin-Subero, JIhttps://doi.org/10.1182/blood.2024025396
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project2025-05-15Saier, C; Sansen, S; Berghout, J; Freyler, K; Einhorn, M; Einhorn, Y; Matalonga, L; Beltran, S; Novelli, A; Selvatici, R; Fortunato, F; Montanari, S; Martinez-Fresno, M; Gumus, G; Agolini, E; Garnier, N; Ferlini, A; Bertini, E; Kirschner, Jhttps://doi.org/10.1186/s13023-025-03692-6
Harnessing STING Signaling and Natural Killer Cells Overcomes PARP Inhibitor Resistance in Homologous Recombination-Deficient Breast Cancer2025-05-15Pedretti, F; Abdalfttah, M; Pellegrino, B; Mateo, F; Martínez-Sanz, P; Herencia-Ropero, A; Odena, A; Clavell-Revelles, P; Casali, G; Domènech, H; Monserrat, L; Papic, D; Malavila, AM; Pascual-Reguant, A; Eixarch, H; Guzmán, M; Rodríguez, O; Grueso, J; Simonetti, S; Fasani, R; Nuciforo, P; Espejo, C; Florian, S; Pujana, MA; Nonell, L; Seoane, J; Valge-Archer, V; O'Connor, MJ; Nieto, JC; Heyn, H; Balmaña, J; Llop-Guevara, A; Serra, Vhttps://doi.org/10.1158/0008-5472.CAN-24-2531
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey2025-05-08Mancuso, M; Colitta, A; Lavorato, M; Van den Bergh, P; Kirschner, J; Kornblum, C; Maggi, L; Lamy, F; Lochmüller, H; Nordstrom, M; Malfatti, E; Ferlini, A; Pareyson, D; Silani, V; Kleopa, KA; de Visser, M; Atalaia, A; Evangelista, Thttps://doi.org/10.1186/s13023-025-03742-z
Characterization of fusion transcripts in AML without recurrent genetic abnormalities unravels new putative fusion genes.2025-05-01Guijarro F; Cabezas S; Dabad M; Bataller A; López C; Castaño-Díez S; Jiménez-Vicente C; Cortés-Bullich A; Garrote M; Álamo JR; Prieto M; Cardús A; Pratcorona M; Rozman M; Aymerich M; Villamor N; Colomer D; Morata J; Esteve-Codina A; Beà S; Costa D; Díaz-Beyá M; López-Guerra M; Esteve Jhttps://doi.org/10.1016/j.bneo.2025.100068
Signatures of Selection for Resistance/Tolerance to Perkinsus olseni in Grooved Carpet Shell Clam (Ruditapes decussatus) Using a Population Genomics Approach2025-05-01Sambade, IM; Estêvao, J; Pampín, M; Cruz, A; Guévélou, E; Blanco, A; Câmara, F; Gómez-Garrido, J; Cruz, F; Bargelloni, L; Carboni, S; Alioto, T; Costas, B; Fernández-Boo, S; Martínez, Phttps://doi.org/10.1111/eva.70106
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype2025-04-01Vall-Palomar, M; Torchia, J; Morata, J; Durán, M; Tonda, R; Ferrer, M; Sánchez, A; Cantero-Recasens, G; Ariceta, G; Meseguer, A; Martinez, Chttps://doi.org/10.1371/journal.pgen.1011568
Comprehensive immunophenotyping of gastric adenocarcinoma identifies an inflamed class of tumors amenable to immunotherapies2025-03-18Rodriguez, JV; Piñol, M; Sorolla, MA; Parisi, E; Sorolla, A; Santacana, M; Ruiz, M; Parra, G; Bernabeu, M; Iglesias, M; Aracil, C; Escartin, A; Vilardell, F; Matias-Guiu, X; Salud, A; Montal, Rhttps://doi.org/10.1136/jitc-2024-010024
Genomic Insights Into the Origin, Decline and Recovery of the Once Critically Endangered Iberian Lynx2025-03-11Godoy JA; Bazzicalupo E; Casas-Marce M; Cruz F; Fernández J; Hasselgren M; Kleinman-Ruiz D; Lorenzo-Fernández L; Lucena-Perez M; Marmesat E; Martínez-Cruz B; Mayor-Fidalgo L; Pérez-Sorribes L; Soriano Lhttps://doi.org/10.1111/mec.17719
Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma2025-03-11Pomares, AA; Merino, LR; González, S; Morata, J; Tonda, R; Arribas, P; Revert, J; Carrillo, E; Grande, C; Roncero, JM; de Oteyza, JP; Nicolas, C; Gutierrez, N; Abrisqueta, P; Gutiérrez, A; Ramírez-Páyer, A; Garcia-Sancho, AM; González-Barca, E; Montes-Moreno, Shttps://doi.org/10.1371/journal.pone.0318689
Tebentafusp, a T cell engager, promotes macrophage reprogramming and in combination with IL-2 overcomes macrophage immunosuppression in cancer2025-03-10Güç, E; Treveil, A; Leach, E; Broomfield, A; Camera, A; Clubley, J; Garcia, PN; Kazachenka, A; Khanolkar, R; del Carpio, L; Heyn, H; Hassel, JC; Sacco, JJ; Stanhope, S; Collins, L; Piulats, JM; Ranade, K; Benlahrech, Ahttps://doi.org/10.1038/s41467-025-57470-w
Plant proximity reduces seed yield in Arabidopsis plants by decreasing the number of ovule primordia2025-03-01Roig-Villanova, I; Torres-Montilla, S; López-Ortiz, E; Di Marzo, M; Sánchez-García, A; Esteve-Codina, A; Gómez-Cadenas, A; Martínez-García, JFhttps://doi.org/10.1111/ppl.70220
Phylogenetic Signal in Primate Tooth Enamel Proteins and its Relevance for Paleoproteomics2025-02-26Fong-Zazueta, R; Krueger, J; Alba, DM; Aymerich, X; Beck, RMD; Cappellini, E; Carrillo-Martin, G; Cirilli, O; Clark, N; Cornejo, OE; Farh, KKH; Ferrández-Peral, L; Juan, DV; Kelley, JL; Kuderna, LFK; Little, J; Orkin, JD; Paterson, RS; Pawar, H; Marques-Bonet, T; Lizano, Ehttps://doi.org/10.1093/gbe/evaf007