TitleDateAuthorsDOI
The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity2023-03-11Labrousse, G; Vande Perre, P; Parra, G; Jaffrelot, M; Leroy, L; Chibon, F; Escudie, F; Selves, J; Hoffmann, JS; Guimbaud, R; Lutzmann, M (2023). The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity. Nar Cancer, 5(2), zcad011-. DOI: 10.1093/narcan/zcad011https://doi.org/10.1093/narcan/zcad011
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature2023-03-08Özsoy Ö; Cinleti T; Günay Ç; Sarlkaya Uzan G; Yeşilmen MC; Lochmüller H; Horvath R; Yiş U; Oktay Y; Hiz Kurul S (2023). DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature. Molecular Syndromology, 14(4), 322-330. DOI: 10.1159/000529494https://doi.org/10.1159/000529494
Past Connectivity but Recent Inbreeding in Cross River Gorillas Determined Using Whole Genomes from Single Hairs2023-03-01Alvarez-Estape, M; Pawar, H; Fontsere, C; Trujillo, AE; Gunson, JL; Bergl, RA; Bermejo, M; Linder, JM; McFarland, K; Oates, JF; Sunderland-Groves, JL; (2023). Past Connectivity but Recent Inbreeding in Cross River Gorillas Determined Using Whole Genomes from Single Hairs. Genes, 14(3), 743-. DOI: 10.3390/genes14030743https://doi.org/10.3390/genes14030743
Endothelial deletion of Wt1 disrupts coronary angiogenesis and myocardium development2023-03-01Ramiro-Pareta, M; Muller-Sanchez, C; Portella-Fortuny, R; Soler-Botija, C; Torres-Cano, A; Esteve-Codina, A; Bayes-Genis, A; Reina, M; Soriano, FX; Mo (2023). Endothelial deletion of Wt1 disrupts coronary angiogenesis and myocardium development. Development, 150(6), dev201147-. DOI: 10.1242/dev.201147https://doi.org/10.1242/dev.201147
The anti-immune dengue subgenomic flaviviral RNA is present in vesicles in mosquito saliva and is associated with increased infectivity2023-03-01Yeh, SC; Strilets, T; Tan, WL; Castillo, D; Medkour, H; Rey-Cadilhac, F; Serrato-Pomar, IM; Rachenne, F; Chowdhury, A; Chuo, V; Azar, SR; Singh, MK; H (2023). The anti-immune dengue subgenomic flaviviral RNA is present in vesicles in mosquito saliva and is associated with increased infectivity. Plos Pathogens, 19(3), e1011224-. DOI: 10.1371/journal.ppat.1011224https://doi.org/10.1371/journal.ppat.1011224
Gal-1 Expression Analysis in the GLIOCAT Multicenter Study: Role as a Prognostic Factor and an Immune-Suppressive Biomarker2023-03-01Martinez-Bosch, N; Vilarino, N; Alameda, F; Mojal, S; Arumi-Uria, M; Carrato, C; Aldecoa, I; Ribalta, T; Vidal, N; Bellosillo, B; Menendez, S; Del Bar (2023). Gal-1 Expression Analysis in the GLIOCAT Multicenter Study: Role as a Prognostic Factor and an Immune-Suppressive Biomarker. Cells, 12(6), 843-. DOI: 10.3390/cells12060843https://doi.org/10.3390/cells12060843
Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories2023-02-14Bentley, BP; Carrasco-Valenzuela, T; Ramos, EKS; Pawar, H; Arantes, LS; Alexander, A; Banerjee, SM; Masterson, P; Kuhlwilm, M; Pippel, M; Mountcastle, (2023). Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories. Proceedings Of The National Academy Of Sciences Of The United States Of America, 120(7), e2201076120-. DOI: 10.1073/pnas.2201076120https://doi.org/10.1073/pnas.2201076120
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children2023-02-10Lee, D; Le Pen, J; Yatim, A; Dong, BH; Aquino, Y; Ogishi, M; Pescarmona, R; Talouarn, E; Rinchai, D; Zhang, P; Perret, M; Liu, ZY; Jordan, I; Bozdemir (2023). Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science, 379(6632), 554-+. DOI: 10.1126/science.abo3627https://doi.org/10.1126/science.abo3627
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases2023-02-08Corvò, A; Matalonga, L; Spalding, D; Senf, A; Laurie, S; Picó-Amador, D; Fernandez-Callejo, M; Paramonov, I; Romero, AF; Garcia-Rios, E; Ciges, JI; Mo (2023). Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases. Cell Genom, 3(2), 100246-. DOI: 10.1016/j.xgen.2022.100246https://doi.org/10.1016/j.xgen.2022.100246
beta-Catenin activity induces an RNA biosynthesis program promoting therapy resistance in T-cell acute lymphoblastic leukemia2023-02-08Garcia-Hernandez, V; Arambilet, D; Guillen, Y; Lobo-Jarne, T; Maqueda, M; Gekas, C; Gonzalez, J; Iglesias, A; Vega-Garcia, N; Sentis, I; Trincado, JL; (2023). beta-Catenin activity induces an RNA biosynthesis program promoting therapy resistance in T-cell acute lymphoblastic leukemia. Embo Molecular Medicine, 15(2), e16554-. DOI: 10.15252/emmm.202216554https://doi.org/10.15252/emmm.202216554
Contrasting transcriptomic patterns reveal a genomic basis for drought resilience in the relict fir Abies pinsapo Boiss2023-02-04Cobo-Simon, I; Maloof, JN; Li, RJ; Amini, H; Mendez-Cea, B; Garcia-Garcia, I; Gomez-Garrido, J; Esteve-Codina, A; Dabad, M; Alioto, T; Wegrzyn, JL; Se (2023). Contrasting transcriptomic patterns reveal a genomic basis for drought resilience in the relict fir Abies pinsapo Boiss. Tree Physiology, 43(2), 315-334. DOI: 10.1093/treephys/tpac115https://doi.org/10.1093/treephys/tpac115
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA12023-02-01Cruz, PMR; Ravenscroft, G; Natera, D; Carr, A; Manzur, A; Liu, WW; Vella, NR; Jerico, I; Gonzalez-Quereda, L; Gallano, P; Montalto, SA; Davis, MR; Lam (2023). A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscular Disorders, 33(2), 161-168. DOI: 10.1016/j.nmd.2022.12.011https://doi.org/10.1016/j.nmd.2022.12.011
The molecular evolution of spermatogenesis across mammals2023-01-12Murat, F; Mbengue, N; Winge, SB; Trefzer, T; Leushkin, E; Sepp, M; Cardoso-Moreira, M; Schmidt, J; Schneider, C; Moessinger, K; Bruening, T; Lamanna, (2023). The molecular evolution of spermatogenesis across mammals. Nature, 613(7943), 308-+. DOI: 10.1038/s41586-022-05547-7https://doi.org/10.1038/s41586-022-05547-7
Global analysis of the association between pig muscle fatty acid composition and gene expression using RNA-Seq2023-01-11Valdes-Hernandez, J; Ramayo-Caldas, Y; Passols, M; Sebastia, C; Criado-Mesas, L; Crespo-Piazuelo, D; Esteve-Codina, A; Castello, A; Sanchez, A; Folch, (2023). Global analysis of the association between pig muscle fatty acid composition and gene expression using RNA-Seq. Scientific Reports, 13(1), 535-. DOI: 10.1038/s41598-022-27016-xhttps://doi.org/10.1038/s41598-022-27016-x
The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees2023-01-10Fibla, J; Maceda, I; Laplana, M; Guerrero, M; Alvarez, MM; Burgueno, J; Camps, A; Fabrega, J; Felisart, J; Grane, J; Remon, JL; Serra, J; Moral, P; La (2023). The power of geohistorical boundaries for modeling the genetic background of human populations: The case of the rural catalan Pyrenees. Frontiers In Genetics, 13(), 1100440-. DOI: 10.3389/fgene.2022.1100440https://doi.org/10.3389/fgene.2022.1100440
Liquidhope: methylome and genomic profiling from very limited quantities of plasma -derived DNA2023-01-05Trinidad, EM; Vidal, E; Coronado, E; Esteve-Codina, A; Castel, V; Cafiete, A; Gut, M; Heath, S; De Mora, JF (2023). Liquidhope: methylome and genomic profiling from very limited quantities of plasma -derived DNA. Briefings In Bioinformatics, 24(1), -. DOI: 10.1093/bib/bbac575https://doi.org/10.1093/bib/bbac575
cvlr: finding heterogeneously methylated genomic regions using ONT reads2023-01-05Raineri, E; Pla, MAI; Dabad, M; Heath, S (2023). cvlr: finding heterogeneously methylated genomic regions using ONT reads. Bioinformatics Advances, 3(1), vbac101-. DOI: 10.1093/bioadv/vbac101https://doi.org/10.1093/bioadv/vbac101
Exon-intron split analysis reveals posttranscriptional regulatory signals induced by high and low n-6/n-3 polyunsaturated fatty acid ratio diets in piglets2023-01-03Manaig, YJY; Marmol-Sanchez, E; Castello, A; Esteve-Codina, A; Sandrini, S; Savoini, G; Agazzi, A; Sanchez, A; Folch, JM (2023). Exon-intron split analysis reveals posttranscriptional regulatory signals induced by high and low n-6/n-3 polyunsaturated fatty acid ratio diets in piglets. Journal Of Animal Science, 101(), skad271-. DOI: 10.1093/jas/skad271https://doi.org/10.1093/jas/skad271
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights2022-12-31Kakouri, AC; Koutalianos, D; Koutsoulidou, A; Oulas, A; Tomazou, M; Nikolenko, N; Turner, C; Roos, A; Lusakowska, A; Janiszewska, K; Papadimas, GK; Pa (2022). Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. Rna Biology, 19(1), 507-518. DOI: 10.1080/15476286.2022.2058817https://doi.org/10.1080/15476286.2022.2058817
Principles of 3D chromosome folding and evolutionary genome reshuffling in mammals2022-12-20Alvarez-Gonzalez, L; Arias-Sarda, C; Montes-Espuna, L; Marin-Gual, L; Vara, C; Lister, NC; Cuartero, Y; Garcia, F; Deakin, J; Renfree, MB; Robinson, T (2022). Principles of 3D chromosome folding and evolutionary genome reshuffling in mammals. Cell Reports, 41(12), 111839-. DOI: 10.1016/j.celrep.2022.111839https://doi.org/10.1016/j.celrep.2022.111839