TitleDateAuthorsDOI
Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates2024-05-23Yee, Sook Wah; Ferrandez-Peral, Luis; Alentorn-Moron, Pol; Fontsere, Claudia; Ceylan, Merve; Koleske, Megan L; Handin, Niklas; Artegoitia, Virginia M; Lara, Giovanni; Chien, Huan-Chieh; Zhou, Xujia; Dainat, Jacques; Zalevsky, Arthur; Sali, Andrej; Brand, Colin M; Wolfreys, Finn D; Yang, Jia; Gestwicki, Jason E; Capra, John A; Artursson, Per; Newman, John W; Marques-Bonet, Tomas; Giacomini, Kathleen Mhttps://doi.org/10.1038/s41467-024-48569-7
LATS1 controls CTCF chromatin occupancy and hormonal response of 3D-grown breast cancer cells2024-05-02Ramírez-Cuéllar, J; Ferrari, R; Sanz, RT; Valverde-Santiago, M; García-García, J; Nacht, AS; Castillo, D; Le Dily, F; Neguembor, MV; Malatesta, M; Bonnin, S; Marti-Renom, MA; Beato, M; Vicent, GPhttps://doi.org/10.1038/s44318-024-00080-x
Population genetics and phylogeographic history of the insular lizard Podarcis lilfordi (Gunther, 1874) from the Balearic Islands based on genome-wide polymorphic data2024-05-01Otalora, K; Riera, JL; Tavecchia, G; Rotger, A; Igual, JM; Trotta, JRP; Baldo, Lhttps://doi.org/10.1002/ece3.11407
Caenorhabditis elegans endorse bacterial nanocellulose fibers as functional dietary Fiber reducing lipid markers2024-05-01Muñoz-Juan, A; Assié, A; Esteve-Codina, A; Gut, M; Benseny-Cases, N; Samuel, BS; Dalfó, E; Laromaine, Ahttps://doi.org/10.1016/j.carbpol.2024.121815
Elucidating the Onset of Cross-Protective Immunity after Intranasal Vaccination with the Attenuated African Swine Fever Vaccine Candidate BA71ΔCD22024-05-01Marín-Moraleda, D; Muñoz-Basagoiti, J; Tort-Miró, A; Navas, MJ; Muñoz, M; Vidal, E; Cobos, A; Martín-Mur, B; Meas, S; Motuzova, V; Chang, CY; Gut, M; Accensi, F; Pina-Pedrero, S; Núñez, JI; Esteve-Codina, A; Gavrilov, B; Rodriguez, F; Liu, LH; Argilaguet, Jhttps://doi.org/10.3390/vaccines12050517
Characterization of the Common Genetic Variation in the Spanish Population of Navarre2024-05-01Maillo, Alberto; Huergo, Estefania; Apellaniz-Ruiz, Maria; Urrutia-Lafuente, Edurne; Miranda, Maria; Salgado, Josefa; Pasalodos-Sanchez, Sara; Delgado-Mora, Luna; Teijido, Oscar; Goicoechea, Ibai; Carmona, Rosario; Perez-Florido, Javier; Aquino, Virginia; Lopez-Lopez, Daniel; Pena-Chilet, Maria; Beltran, Sergi; Dopazo, Joaquin; Lasa, Inigo; Beloqui, Juan Jose; Alonso, Angel; Gomez-Cabrero, Davidhttps://doi.org/10.3390/genes15050585
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative2024-04-01Beijer, D; Fogel, BL; Beltran, S; Danzi, MC; Németh, AH; Züchner, S; Synofzik, Mhttps://doi.org/10.1007/s12311-023-01537-1
FixNCut: single-cell genomics through reversible tissue fixation and dissociation2024-03-29Jiménez-Gracia, L; Marchese, D; Nieto, JC; Caratu, G; Melón-Ardanaz, E; Gudiño, V; Roth, S; Wise, K; Ryan, NK; Jensen, KB; Hernando-Momblona, X; Bernardes, JP; Tran, F; Sievers, LK; Schreiber, S; van den Berge, M; Kole, T; van der Velde, PL; Nawijn, MC; Rosenstiel, P; Batlle, E; Butler, LM; Parish, IA; Plummer, J; Gut, I; Salas, A; Heyn, H; Martelotto, LGhttps://doi.org/10.1186/s13059-024-03219-5
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies2024-03-28Ferreira T; Polavarapu K; Olimpio C; Paramonov I; Lochmüller H; Horvath Rhttps://doi.org/10.1007/s00415-024-12319-y
Multi-organ single-cell transcriptomics of immune cells uncovered organ-specific gene expression and functions2024-03-27Tsagiopoulou, M; Rashmi, S; Aguilar-Fernandez, S; Nieto, J; Gut, IGhttps://doi.org/10.1038/s41597-024-03152-z
scDrugPrio: a framework for the analysis of single-cell transcriptomics to address multiple problems in precision medicine in immune-mediated inflammatory diseases2024-03-20Schäfer, S; Smelik, M; Sysoev, O; Zhao, YL; Eklund, D; Lilja, S; Gustafsson, M; Heyn, H; Julia, A; Kovács, IA; Loscalzo, J; Marsal, S; Zhang, H; Li, XX; Gawel, D; Wang, H; Benson, Mhttps://doi.org/10.1186/s13073-024-01314-7
Genomics of the expanding pine pathogen Lecanosticta acicola reveals patterns of ongoing genetic admixture2024-03-19Marcet-Houben, M; Cruz, F; Gómez-Garrido, J; Alioto, TS; Nunez-Rodriguez, JC; Mesanza, N; Gut, M; Iturritxa, E; Gabaldon, Thttps://doi.org/10.1128/msystems.00928-23
Endothelial TDP-43 controls sprouting angiogenesis and vascular barrier integrity, and its deletion triggers neuroinflammation2024-03-08Arribas, V; Onetti, Y; Ramiro-Pareta, M; Villacampa, P; Beck, H; Alberola, M; Esteve-Codina, A; Merkel, A; Sperandio, M; Martínez-Estrada, OM; Schmid, B; Montanez, Ehttps://doi.org/10.1172/jci.insight.177819
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series2024-03-01Pugliese, A; Della Marina, A; Estephan, ED; Zanoteli, E; Roos, A; Schara-Schmidt, U; Hentschel, A; Azuma, Y; Töpf, A; Thompson, R; Polavarapu, K; Lochmüller, Hhttps://doi.org/10.1007/s00415-023-12070-w
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes2024-02-28Nunez-Carpintero, I; Rigau, M; Bosio, M; O'Connor, E; Spendiff, S; Azuma, Y; Topf, A; Thompson, R; 't Hoen, PAC; Chamova, T; Tournev, I; Guergueltcheva, V; Laurie, S; Beltran, S; Capella-Gutierrez, S; Cirillo, D; Lochmueller, H; Valencia, Ahttps://doi.org/10.1038/s41467-024-45099-0
Converging and evolving immuno-genomic routes toward immune escape in breast cancer2024-02-21Blanco-Heredia, J; Souza, CA; Trincado, JL; Gonzalez-Cao, M; Gonçalves-Ribeiro, S; Gil, SR; Pravdyvets, D; Cedeño, S; Callari, M; Marra, A; Gazzo, AM; Weigelt, B; Pareja, F; Vougiouklakis, T; Jungbluth, AA; Rosell, R; Brander, C; Tresserra, F; Reis, JS; Tiezzi, DG; de la Iglesia, N; Heyn, H; De Mattos-Arruda, Lhttps://doi.org/10.1038/s41467-024-45292-1
An atlas of cells in the human tonsil2024-02-13Massoni-Badosa, R; Aguilar-Fernández, S; Nieto, JC; Soler-Vila, P; Elosua-Bayes, M; Marchese, D; Kulis, M; Vilas-Zornoza, A; Bühler, MM; Rashmi, S; Alsinet, C; Caratù, G; Moutinho, C; Ruiz, S; Lorden, P; Lunazzi, G; Colomer, D; Frigola, G; Blevins, W; Romero-Rivero, L; Jimenez-Martinez, V; Vidal, A; Mateos-Jaimez, J; Maiques-Diaz, A; Ovejero, S; Moreaux, J; Palomino, S; Gomez-Cabrero, D; Agirre, X; Weniger, MA; King, HW; Garner, LC; Marini, F; Cervera-Paz, FJ; Baptista, PM; Vilaseca, I; Rosales, C; Ruiz-Gaspà, S; Talks, B; Sidhpura, K; Pascual-Reguant, A; Hauser, AE; Haniffa, M; Prosper, F; Küppers, R; Gut, IG; Campo, E; Martin-Subero, JI; Heyn, Hhttps://doi.org/10.1016/j.immuni.2024.01.006
The C250T Mutation of TERTp Might Grant a Better Prognosis to Glioblastoma by Exerting Less Biological Effect on Telomeres and Chromosomes Than the C228T Mutation2024-02-01Gorria, T; Crous, C; Pineda, E; Hernandez, A; Domenech, M; Sanz, C; Jares, P; Muñoz-Mármol, AM; Arpí-Llucia, O; Melendez, B; Gut, M; Esteve, A; Esteve-Codina, A; Parra, G; Alameda, F; Carrato, C; Aldecoa, I; Mallo, M; de la Iglesia, N; Balana, Chttps://doi.org/10.3390/cancers16040735
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant2024-02-01Baskar, D; Polavarapu, K; Preethish-Kumar, V; Vengalil, S; Nashi, S; Toepf, A; Thomas, A; Sanka, SB; Menon, D; Srivastava, K; Arunachal, G; Nandeesh, BN; Lochmüller, H; Nalini, Ahttps://doi.org/10.1212/NXG.0000000000200122
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report2024-02-01Lagorce, D; Lebreton, E; Matalonga, L; Hongnat, O; Chahdil, M; Piscia, D; Paramonov, I; Ellwanger, K; Köhler, S; Robinson, P; Graessner, H; Beltran, S; Lucano, C; Hanauer, M; Rath, Ahttps://doi.org/10.1038/s41431-023-01486-7