TitleDateReferenceDOI
Dynamics of genome architecture and chromatin function during human B cell differentiation and neoplastic transformation2021-01-28Vilarrasa-Blasi, R; Soler-Vila, P; Verdaguer-Dot, N; Russiñol, N; Di Stefano, M; Chapaprieta, V; Clot, G; Farabella, I; Cuscó, P; Kulis, M; Agirre, X; (2021). Dynamics of genome architecture and chromatin function during human B cell differentiation and neoplastic transformation. Nature Communications, 12(1), 651-. DOI: 10.1038/s41467-020-20849-yhttps://doi.org/10.1038/s41467-020-20849-y
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021-01-22Gungor, S; Oktay, Y; Hiz, S; Aranguren-Ibáñez, A; Kalafatcilar, I; Yaramis, A; Karaca, E; Yis, U; Sonmezler, E; Ekinci, B; Aslan, M; Yilmaz, E; Özgör, (2021). Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease. Iscience, 24(1), 101948-. DOI: 10.1016/j.isci.2020.101948https://doi.org/10.1016/j.isci.2020.101948
RNA Sequencing and immunohistochemistry reveal ZFN7 as a stronger marker of survival than molecular subtypes in G-CIMP-negative glioblastoma2021-01-15Esteve-Codina, A; Alameda, F; Carrato, C; Pineda, E; Arpí, O; Martinez-García, M; Mallo, M; Gut, M; Dabad, M; Tortosa, A; Del Barco, S; Capellades, J; (2021). RNA Sequencing and immunohistochemistry reveal ZFN7 as a stronger marker of survival than molecular subtypes in G-CIMP-negative glioblastoma. Clinical Cancer Research, 27(2), 645-655. DOI: 10.1158/1078-0432.CCR-20-2141https://doi.org/10.1158/1078-0432.CCR-20-2141
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications2021-01-15Perea-Romero, I; Gordo, G; Iancu, IF; Del Pozo-Valero, M; Almoguera, B; Blanco-Kelly, F; Carreño, E; Jimenez-Rolando, B; Lopez-Rodriguez, R; Lorda-San (2021). Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11(1), 1526-. DOI: 10.1038/s41598-021-81093-yhttps://doi.org/10.1038/s41598-021-81093-y
The order and logic of CD4 versus CD8 lineage choice and differentiation in mouse thymus2021-01-04Karimi, MM; Guo, Y; Cui, XK; Pallikonda, HA; Horková, V; Wang, YF; Gil, SR; Rodriguez-Esteban, G; Robles-Rebollo, I; Bruno, L; Georgieva, R; Patel, B; (2021). The order and logic of CD4 versus CD8 lineage choice and differentiation in mouse thymus. Nature Communications, 12(1), 99-. DOI: 10.1038/s41467-020-20306-whttps://doi.org/10.1038/s41467-020-20306-w
Hierarchical chromatin organization detected by TADpole2021-01-01Soler-Vila, P; Cuscó, P; Farabella, I; Di Stefano, M; Marti-Renom, MA (2021). Hierarchical chromatin organization detected by TADpole. Nucleic Acids Research, 48(7), e39-. DOI: 10.1093/nar/gkaa087https://doi.org/10.1093/nar/gkaa087
Analysis, modeling, and visualization of chromosome conformation capture experiments2021-01-01Di Stefano, M; Castillo, D; Serra, F; Farabella, I; Goodstadt, MN; Marti-Renom, MA (2021). Analysis, modeling, and visualization of chromosome conformation capture experiments. Methods In Molecular Biology, 2157(), 35-63. DOI: 10.1007/978-1-0716-0664-3_4https://doi.org/10.1007/978-1-0716-0664-3_4
Interleukin-4 and interleukin-13 induce different metabolic profiles in microglia and macrophages that relate with divergent outcomes after spinal cord injury2021-01-01Amo-Aparicio, J; Garcia-Garcia, J; Francos-Quijorna, I; Urpi, A; Esteve-Codina, A; Gut, M; Quintana, A; Lopez-Vales, R (2021). Interleukin-4 and interleukin-13 induce different metabolic profiles in microglia and macrophages that relate with divergent outcomes after spinal cord injury. Theranostics, 11(20), 9805-9820. DOI: 10.7150/thno.65203https://doi.org/10.7150/thno.65203
Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins2021-01-01Khan, N; de Manuel, M; Peyregne, S; Do, R; Prufer, K; Marques-Bonet, T; Varki, N; Gagneux, P; Varki, A (2021). Multiple Genomic Events Altering Hominin SIGLEC Biology and Innate Immunity Predated the Common Ancestor of Humans and Archaic Hominins. Genome Biology And Evolution, 12(7), 1040-1050. DOI: 10.1093/gbe/evaa125https://doi.org/10.1093/gbe/evaa125
Dysregulation of GSK3 beta-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients2021-01-01Grande, V; Hathazi, D; O'Connor, E; Marteau, T; Schara-Schmidt, U; Hentschel, A; Gourdon, G; Nikolenko, N; Lochmuller, H; Roos, A (2021). Dysregulation of GSK3 beta-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis, 8(4), 603-619. DOI: 10.3233/JND-200558https://doi.org/10.3233/JND-200558
Exome-wide rare variant analysis in familial essential tremor2021-01-01Diez-Fairen, M; Houle, G; Ortega-Cubero, S; Bandres-Ciga, S; Alvarez, I; Carcel, M; Ibañez, L; Fernandez, MV; Budde, JP; Trotta, JR; Tonda, R; Chong, (2021). Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders, 82(), 109-116. DOI: 10.1016/j.parkreldis.2020.11.021https://doi.org/10.1016/j.parkreldis.2020.11.021
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 20192021-01-01Pini, J; Siciliano, G; Lahaut, P; Braun, S; Segovia-Kueny, S; Kole, A; Hernando, I; Selb, J; Schirinzi, E; Duong, T; Hogrel, JY; Olmedo, JJS; Vissing, (2021). E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. J Neuromuscul Dis, 8(4), 743-754. DOI: 10.3233/JND-210655https://doi.org/10.3233/JND-210655
A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives2021-01-01Westbury MV; Barnett R; Sandoval-Velasco M; Gower G; Vieira FG; de Manuel M; Hansen AJ; Yamaguchi N; Werdelin L; Marques-Bonet T; Gilbert MTP; Lorenze (2021). A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives. Gates Open Research, 1(), -. DOI: 10.12688/openreseurope.13104.1https://doi.org/10.12688/openreseurope.13104.1
A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives.2021-01-01Westbury MV; Barnett R; Sandoval-Velasco M; Gower G; Vieira FG; de Manuel M; Hansen AJ; Yamaguchi N; Werdelin L; Marques-Bonet T; Gilbert MTP; Lorenze (2021). A genomic exploration of the early evolution of extant cats and their sabre-toothed relatives.. Open Research Europe, 1(), 25-. DOI: 10.12688/openreseurope.13104.2https://doi.org/10.12688/openreseurope.13104.2
Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens2020-12-21Barnett, R; Westbury, MV; Sandoval-Velasco, M; Vieira, FG; Jeon, S; Zazula, G; Martin, MD; Ho, SYW; Mather, N; Gopalakrishnan, S; Ramos-Madrigal, J; d (2020). Genomic Adaptations and Evolutionary History of the Extinct Scimitar-Toothed Cat, Homotherium latidens. Current Biology, 30(24), 5018.e1-5025.e5. DOI: 10.1016/j.cub.2020.09.051https://doi.org/10.1016/j.cub.2020.09.051
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome2020-12-17Spendiff, S; Howarth, R; McMacken, G; Davey, T; Quinlan, K; O'Connor, E; Slater, C; Hettwer, S; Mäder, A; Roos, A; Horvath, R; Lochmuller, H (2020). Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome. Frontiers In Molecular Neuroscience, 13(), 594220-. DOI: 10.3389/fnmol.2020.594220https://doi.org/10.3389/fnmol.2020.594220
Glioblastoma TCGA Mesenchymal and IGS 23 Tumors are Identifiable by IHC and have an Immune-phenotype Indicating a Potential Benefit from Immunotherapy2020-12-15Carrato, C; Alameda, F; Esteve-Codina, A; Pineda, E; Arpí, O; Martinez-García, M; Mallo, M; Gut, M; Lopez-Martos, R; Del Barco, S; Ribalta, T; Capella (2020). Glioblastoma TCGA Mesenchymal and IGS 23 Tumors are Identifiable by IHC and have an Immune-phenotype Indicating a Potential Benefit from Immunotherapy. Clinical Cancer Research, 26(24), 6600-6609. DOI: 10.1158/1078-0432.CCR-20-2171https://doi.org/10.1158/1078-0432.CCR-20-2171
Development of whole-genome multiplex assays and construction of an integrated genetic map using SSR markers in Senegalese sole2020-12-14Guerrero-Cózar, I; Perez-Garcia, C; Benzekri, H; Sánchez, JJ; Seoane, P; Cruz, F; Gut, M; Zamorano, MJ; Claros, MG; Manchado, M (2020). Development of whole-genome multiplex assays and construction of an integrated genetic map using SSR markers in Senegalese sole. Scientific Reports, 10(1), 21905-. DOI: 10.1038/s41598-020-78397-whttps://doi.org/10.1038/s41598-020-78397-w
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study2020-12-07Della Marina, A; Wibbeler, E; Abicht, A; Kölbel, H; Lochmüller, H; Roos, A; Schara, U (2020). Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study. Frontiers In Human Neuroscience, 14(), 560860-. DOI: 10.3389/fnhum.2020.560860https://doi.org/10.3389/fnhum.2020.560860
Muscle progenitor specification and myogenic differentiation are associated with changes in chromatin topology2020-12-04Zhang, N; Mendieta-Esteban, J; Magli, A; Lilja, KC; Perlingeiro, RCR; Marti-Renom, MA; Tsirigos, A; Dynlacht, BD (2020). Muscle progenitor specification and myogenic differentiation are associated with changes in chromatin topology. Nature Communications, 11(1), 6222-. DOI: 10.1038/s41467-020-19999-whttps://doi.org/10.1038/s41467-020-19999-w