TitleDateReferenceDOI
Leveraging base-pair mammalian constraint to understand genetic variation and human disease2023-04-28Sullivsn, PF; Meadows, JRS; Gazal, S; Phan, BN; Li, X; Genereux, DP; Dong, MX; Bianchi, M; Andrews, G; Sakthikumar, S; Nordin, J; Roy, A; Christmas, M (2023). Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science, 380(6643), eabn2937-+. DOI: 10.1126/SCIENCE.ABN2937https://doi.org/10.1126/SCIENCE.ABN2937
Insights into mammalian TE diversity through the curation of 248 genome assemblies2023-04-28Osmanski, AB; Paulat, NS; Korstian, J; Grimshaw, JR; Halsey, M; Sullivan, KAM; Moreno-Santillán, DD; Crookshanks, C; Roberts, J; Garcia, C; Johnson, M (2023). Insights into mammalian TE diversity through the curation of 248 genome assemblies. Science, 380(6643), eabn1430-+. DOI: 10.1126/SCIENCE.ABN1430https://doi.org/10.1126/SCIENCE.ABN1430
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites2023-04-28Andrews, G; Fan, K; Pratt, HE; Phalke, N; Karlsson, EK; Lindblad-Toh, K; Gazal, S; Moore, JE; Weng, ZP (2023). Mammalian evolution of human cis-regulatory elements and transcription factor binding sites. Science, 380(6643), eabn7930-. DOI: 10.1126/SCIENCE.ABN7930https://doi.org/10.1126/SCIENCE.ABN7930
De novo transcriptome sequencing and gene co-expression reveal a genomic basis for drought sensitivity and evidence of a rapid local adaptation on Atlas cedar (Cedrus atlantica)2023-04-19Cobo-Simon, I; Gomez-Garrido, J; Esteve-Codina, A; Dabad, M; Alioto, T; Maloof, JN; Mendez-Cea, B; Seco, JI; Linares, JC; Gallego, FJ (2023). De novo transcriptome sequencing and gene co-expression reveal a genomic basis for drought sensitivity and evidence of a rapid local adaptation on Atlas cedar (Cedrus atlantica). Frontiers In Plant Science, 14(), 1116863-. DOI: 10.3389/fpls.2023.1116863https://doi.org/10.3389/fpls.2023.1116863
MYC activation impairs cell-intrinsic IFNy signaling and confers resistance to anti-PD1/PD-L1 therapy in lung cancer2023-04-18Alburquerque-Bejar, JJ; Navajas-Chocarro, P; Saigi, M; Ferrero-Andres, A; Morillas, JM; Vilarrubi, A; Gomez, A; Mate, J; Munoz-Marmol, AM; Romero, OA; (2023). MYC activation impairs cell-intrinsic IFNy signaling and confers resistance to anti-PD1/PD-L1 therapy in lung cancer. Cell Reports Medicine, 4(4), 101006-. DOI: 10.1016/j.xcrm.2023.101006https://doi.org/10.1016/j.xcrm.2023.101006
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-192023-04-05Matuozzo, D; Talouarn, E; Marchal, A; Zhang, P; Manry, J; Seeleuthner, Y; Zhang, Y; Bolze, A; Chaldebas, M; Milisavljevic, B; Gervais, A; Bastard, P; (2023). Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Medicine, 15(1), 22-. DOI: 10.1186/s13073-023-01173-8https://doi.org/10.1186/s13073-023-01173-8
Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny2023-04-03Valcarce, DG; Riesco, MF; Cuesta-Martin, L; Esteve-Codina, A; Martinez-Vazquez, JM; Robles, V (2023). Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny. Bmc Biology, 21(1), 70-. DOI: 10.1186/s12915-023-01570-whttps://doi.org/10.1186/s12915-023-01570-w
Unravelling inclusion body myositis using a patient-derived fibroblast model2023-04-01Canto-Santos, J; Valls-Roca, L; Tobias, E; Garcia-Garcia, FJ; Guitart-Mampel, M; Esteve-Codina, A; Martin-Mur, B; Casado, M; Artuch, R; Solsona-Vilarr (2023). Unravelling inclusion body myositis using a patient-derived fibroblast model. Journal Of Cachexia Sarcopenia And Muscle, 14(2), 964-977. DOI: 10.1002/jcsm.13178https://doi.org/10.1002/jcsm.13178
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023-04-01Denomme-Pichon, AS; Matalonga, L; de Boer, E; Jackson, A; Benetti, E; Banka, S; Bruel, AL; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Duffourd, Y; (2023). A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genetics In Medicine, 25(4), 100018-. DOI: 10.1016/j.gim.2023.100018https://doi.org/10.1016/j.gim.2023.100018
Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy2023-04-01Codina, A; Roldan, M; Natera-de Benito, D; Ortez, C; Planas, R; Matalonga, L; Cuadras, D; Carrera, L; Exposito, J; Marquez, J; Jimenez-Mallebrera, C; (2023). Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy. International Journal Of Molecular Sciences, 24(7), 6358-. DOI: 10.3390/ijms24076358https://doi.org/10.3390/ijms24076358
CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst2023-03-25Zagmutt, S; Mera, P; Gonzalez-Garcia, I; Ibeas, K; Romero, MD; Obri, A; Martin, B; Esteve-Codina, A; Soler-Vazquez, MC; Bastias-Perez, M; Canes, L; Au (2023). CPT1A in AgRP neurons is required for sex-dependent regulation of feeding and thirst. Biology Of Sex Differences, 14(1), 14-. DOI: 10.1186/s13293-023-00498-8https://doi.org/10.1186/s13293-023-00498-8
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