Dipòsit Digital de Documents de la UAB 27 registres trobats  1 - 10següentfinal  anar al registre: La cerca s'ha fet en 0.01 segons. 
1.
32 p, 2.0 MB Comprehensive identification of somatic nucleotide variants in human brain tissue / Wang, Yifan (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics) ; Bae, Taejeong (Mayo Clinic. Center for Individualized Medicine. Department of Health Sciences Research) ; Thorpe, Jeremy (Johns Hopkins School of Medicine. Program in Biochemistry, Cellular and Molecular Biology) ; Sherman, Maxwell A. (Harvard Medical School) ; Jones, Attila G. (Icahn School of Medicine at Mount Sinai. Department of Genetics and Genomic Sciences) ; Cho, Sean (Kennedy Krieger Institute. Department of Neurology) ; Daily, Kenneth (Sage Bionetworks (Seattle, Estats Units)) ; Dou, Yanmei (Harvard Medical School. Department of Biomedical Informatics) ; Ganz, Javier (Harvard Medical School. Departments of Neurology and Pediatrics) ; Galor, Alon (Harvard Medical School. Department of Biomedical Informatics) ; Lobon, Irene (Universitat de Barcelona. Departament de Biologia Cel·lular, Fisiologia i Immunologia) ; Pattni, Reenal (Stanford University School of Medicine. Department of Genetics) ; Rosenbluh, Chaggai (Icahn School of Medicine at Mount Sinai. Department of Cell, Developmental and Regenerative Biology) ; Tomasi, Simone (Yale University. Child Study Center) ; Tomasini, Livia (Yale University. Child Study Center) ; Yang, Xiaoxu (Rady Children's Institute for Genomic Medicine) ; Zhou, Bo (Stanford University School of Medicine. Department of Genetics) ; Akbarian, Schahram (Icahn School of Medicine at Mount Sinai. Department of Psychiatry) ; Ball, Laurel L. (Rady Children's Institute for Genomic Medicine) ; Bizzotto, Sara (Broad Institute of MIT and Harvard) ; Emery, Sarah B. (University of Michigan Medical School. Department of Human Genetics) ; Doan, Ryan (Broad Institute of MIT and Harvard) ; Fasching, Liana (Yale University. Child Study Center) ; Jang, Yeongjun (Mayo Clinic. Center for Individualized Medicine. Department of Health Sciences Research) ; Juan, David (Institut de Biologia Evolutiva (Barcelona)) ; Lizano, Esther (Institut de Biologia Evolutiva (Barcelona)) ; Luquette, Lovelace J. (Harvard Medical School. Department of Biomedical Informatics) ; Moldovan, John B. (University of Michigan Medical School. Department of Human Genetics) ; Narurkar, Rujuta (Lieber Institute for Brain Development) ; Oetjens, Matthew T. (University of Michigan Medical School. Department of Human Genetics) ; Rodin, Rachel E. (Broad Institute of MIT and Harvard) ; Sekar, Shobana (Mayo Clinic. Center for Individualized Medicine. Department of Health Sciences Research) ; Shin, Joo Heon (Johns Hopkins School of Medicine. Department of Neurology) ; Soriano García, Eduardo (Universitat de Barcelona. Departament de Biologia Cel·lular, Fisiologia i Immunologia) ; Straub, Richard E. (Lieber Institute for Brain Development) ; Zhou, Weichen (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics) ; Chess, Andrew (Icahn School of Medicine at Mount Sinai. Department of Genetics and Genomic Sciences) ; Gleeson, Joseph G. (Rady Children's Institute for Genomic Medicine) ; Marques-Bonet, Tomas (Institut Català de Paleontologia Miquel Crusafont) ; Park, Peter J. (Harvard Medical School. Department of Biomedical Informatics) ; Peters, Mette A. (Sage Bionetworks) ; Pevsner, Jonathan (Johns Hopkins School of Medicine. Department of Psychiatry and Behavioral Sciences) ; Walsh, Christopher A. (Broad Institute of MIT and Harvard) ; Weinberger, Daniel R. (Johns Hopkins School of Medicine. Department of Neuroscience) ; Vaccarino, Flora M. (Yale University. Department of Neuroscience) ; Moran, John V. (University of Michigan Medical School. Department of Internal Medicine) ; Urban, Alexander E. (Stanford University School of Medicine. Department of Psychiatry and Behavioral Sciences) ; Kidd, Jeffrey M. (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics) ; Mills, Ryan E. (University of Michigan Medical School. Department of Computational Medicine and Bioinformatics) ; Abyzov, Alexej (Mayo Clinic. Center for Individualized Medicine. Department of Health Sciences Research) ; Brain Somatic Mosaicism Network
Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. [...]
2021 - 10.1186/s13059-021-02285-3
Genome biology, Vol. 22 (march 2021)  
2.
24 p, 2.2 MB The evolution of relapse of adult T cell acute lymphoblastic leukemia / Sentís, I. (Institut de Recerca Biomèdica de Lleida) ; González, S. (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ; Genescà, Eulàlia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; García-Hernández, Violeta (Institut Hospital del Mar d'Investigacions Mèdiques) ; Muiños, F. (Institut de Recerca Biomèdica) ; González Gil, Celia. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; López-Arribillaga, E. (Institut de Recerca Biomèdica) ; Gonzalez, Jessica (Institut Hospital del Mar d'Investigacions Mèdiques) ; Fernández Ibarrondo, Lierni (Institut Hospital del Mar d'Investigacions Mèdiques) ; Mularoni, L. (CMR[B] Center of Regenerative Medicine) ; Espinosa, Lluís (Institut Hospital del Mar d'Investigacions Mèdiques) ; Bellosillo Paricio, Beatriz (Institut Hospital del Mar d'Investigacions Mèdiques) ; Ribera, Jose-Maria (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Bigas, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ; Gonzalez-Perez, A. (Universitat Pompeu Fabra) ; Lopez-Bigas, N. (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ; Universitat Autònoma de Barcelona
Background: Adult T cell acute lymphoblastic leukemia (T-ALL) is a rare disease that affects less than 10 individuals in one million. It has been less studied than its cognate pediatric malignancy, which is more prevalent. [...]
2020 - 10.1186/s13059-020-02192-z
Genome biology, Vol. 21 Núm. 1 (december 2020) , p. 284  
3.
16 p, 1.4 MB Sampling time-dependent artifacts in single-cell genomics studies / Massoni-Badosa, R. (Centre de Regulació Genòmica) ; Iacono, G. (Centre de Regulació Genòmica) ; Moutinho, C. (Centre de Regulació Genòmica) ; Kulis, M. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Palau, N. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Marchese, D. (Centre de Regulació Genòmica) ; Rodríguez-Ubreva, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ballestar, E. (Hospital Clínic i Provincial de Barcelona) ; Rodriguez-Esteban, G. (Centre de Regulació Genòmica) ; Marsal, S. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aymerich, M. (Hospital Clínic i Provincial de Barcelona) ; Colomer, D. (Centro de Investigación Biomédica en Red de Cáncer) ; Campo, E. (Centro de Investigación Biomédica en Red de Cáncer) ; Julià, A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Subero, J.I. (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ; Heyn, Holger (Universitat Pompeu Fabra) ; Universitat Autònoma de Barcelona
Robust protocols and automation now enable large-scale single-cell RNA and ATAC sequencing experiments and their application on biobank and clinical cohorts. However, technical biases introduced during sample acquisition can hinder solid, reproducible results, and a systematic benchmarking is required before entering large-scale data production. [...]
2020 - 10.1186/s13059-020-02032-0
Genome biology, Vol. 21 Núm. 1 (november 2020) , p. 112  
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11 p, 571.9 KB Multiple genomic events altering Hominin SIGLEC biology and innate immunity predated the common ancestor of humans and archaic Hominins / Khan, Naazneen (University of California. Glycobiology Research and Training Center. Department of Medicine (USA)) ; de Manuel, Marc (Universitat Pompeu Fabara. Institut de Biologia Evolutiva) ; Peyregne, Stephane (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics (Germany)) ; Do, Raymond (University of California. Glycobiology Research and Training Center. Department of Medicine (USA)) ; Prufer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics (Germany)) ; Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Varki, Nissi (University of California. Glycobiology Research and Training Center. Department of Medicine (USA)) ; Gagneux, Pascal (University of California. Glycobiology Research and Training Center. Department of Medicine (USA)) ; Varki, Ajit (University of California. Glycobiology Research and Training Center. Department of Medicine (USA))
Human-specific pseudogenization of the CMAH gene eliminated the mammalian sialic acid (Sia) Neu5Gc (generating an excess of its precursor Neu5Ac), thus changing ubiquitous cell surface "self-associated molecular patterns" that modulate innate immunity via engagement of CD33-related-Siglec receptors. [...]
2020 - 10.1093/gbe/evaa125
Genome biology and evolution, Vol. 12, Issue 7 (July 2020) , p. 1040-1050  
5.
20 p, 858.8 KB Adaptation and Conservation throughout the Drosophila melanogaster Life-Cycle / Coronado-Zamora, Marta (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Salvador-Martínez, Irepan (University College London. Department of Genetics, Evolution and Environment) ; Castellano Esteve, David (Aarhus University. Bioinformatics Research Center) ; Barbadilla Prados, Antoni (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Salazar-Ciudad, Isaac (Centre de Recerca Matemàtica)
Previous studies of the evolution of genes expressed at different life-cycle stages of Drosophila melanogaster have not been able to disentangle adaptive from nonadaptive substitutions when using nonsynonymous sites. [...]
2019 - 10.1093/gbe/evz086
Genome biology and evolution, Vol. 11, Num. 5 (May 2019) , p. 1463-1482  
6.
19 p, 6.2 MB Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx / Abascal, Federico (Centro Nacional de Investigaciones Oncológicas) ; Corvelo, Andre. (Centre Nacional d'Anàlisi Genòmica) ; Cruz, Fernando (Centre Nacional d'Anàlisi Genòmica) ; Villanueva-Cañas, J.L. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Vlasova, A. (Centre de Regulació Genòmica) ; Marcet-Houben, M. (Centre de Regulació Genòmica) ; Martínez-Cruz, B. (Estación Biológica de Doñana) ; Cheng, J.Y. (Aarhus University. Bioinformatics Research Centre) ; Prieto, P. (Centre de Regulació Genòmica) ; Quesada, V. (Universidad de Oviedo. Instituto Universitario de Oncología) ; Quilez, J. (Institut de Biologia Evolutiva (Barcelona)) ; Li, G. (Texas A;M University. Department of Veterinary Integrative Biosciences) ; Garcia, Francisca (Universitat Autònoma de Barcelona. Servei de Cultius Cel·lulars, Producció d'Anticossos i Citometria) ; Rubio-Camarillo, M. (Centro Nacional de Investigaciones Oncológicas) ; Frias, L. (Centre Nacional d'Anàlisi Genòmica) ; Ribeca, P. (Centre Nacional d'Anàlisi Genòmica) ; Capella-Gutiérrez, S. (Centre de Regulació Genòmica) ; Rodríguez, J.M. (Centro Nacional de Investigaciones Oncológicas) ; Câmara, F. (Centre de Regulació Genòmica) ; Lowy, E. (Centre de Regulació Genòmica) ; Cozzuto, L. (Centre de Regulació Genòmica) ; Erb, I. (Centre de Regulació Genòmica) ; Tress, M.L. (Centro Nacional de Investigaciones Oncológicas) ; Rodriguez-Ales, J.L. (Centre de Regulació Genòmica) ; Ruiz-Orera, J. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Reverter, F. (Centre de Regulació Genòmica) ; Casas-Marce, M. (Estación Biológica de Doñana) ; Soriano, L. (Estación Biológica de Doñana) ; Arango, J.R. (Universidad de Oviedo. Departamento de Bioquímica y Biología Molecular) ; Derdak, S. (Centre Nacional d'Anàlisi Genòmica) ; Galán, B. (Centro de Investigaciones Biológicas Margarita Salas) ; Blanc, J. (Centre Nacional d'Anàlisi Genòmica) ; Gut, M. (Centre Nacional d'Anàlisi Genòmica) ; Lorente-Galdos, B. (Institut de Biologia Evolutiva (Barcelona)) ; Andrés-Nieto, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; López-Otín, C. (Universidad de Oviedo. Departamento de Bioquímica y Biología Molecular) ; Valencia, A. (Centro Nacional de Investigaciones Oncológicas) ; Gut, I. (Centre Nacional d'Anàlisi Genòmica) ; García, J.L. (Centro de Investigaciones Biológicas Margarita Salas) ; Guigó, R. (Centre de Regulació Genòmica) ; Murphy, W.J. (Texas A;M University. Department of Veterinary Integrative Biosciences) ; Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Marques-Bonet, Tomas. (Centre Nacional d'Anàlisi Genòmica) ; Roma, G. (Centre de Regulació Genòmica) ; Notredame, C. (Centre de Regulació Genòmica) ; Mailund, T. (Aarhus University. Bioinformatics Research Centre) ; Albà, M.M. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Gabaldón, T. (Centre de Regulació Genòmica) ; Alioto, T. (Centre Nacional d'Anàlisi Genòmica) ; Godoy, J.A. (Estación Biológica de Doñana)
Background: Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. [...]
2016 - 10.1186/s13059-016-1090-1
Genome biology, Vol. 17 (2016) , art. 251  
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12 p, 591.4 KB Interactive roles of chromatin regulation and circadian clock function in plants / Chen, Z. Jeffrey (University of Texas at Austin. Department of Integrative Biology) ; Mas, Paloma (Centre de Recerca en Agrigenòmica)
Circadian rhythms in transcription ultimately result in oscillations of key biological processes. Understanding how transcriptional rhythms are generated in plants provides an opportunity for fine-tuning growth, development, and responses to the environment. [...]
2019 - 10.1186/s13059-019-1672-9
Genome biology, Vol. 20 (March 2019) , art. 62  
8.
13 p, 561.5 KB Gene fusions derived by transcriptional readthrough are driven by segmental duplication in human / McCartney, Ann M. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Hyland, Edel M. (Queens University Belfast. Institute for Global Food Security) ; Cormican, Paul (Animal and Grassland Research and Innovation Centre (Irlanda)) ; Moran, Raymond J. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Webb, Andrew E. (Dublin City University. Bioinformatics and Molecular Evolution Group) ; Lee, Kate D. (Massey University (New Zealand)) ; Hernandez Rodriguez, Jessica (Institut de Biologia Evolutiva (Barcelona)) ; Prado Martinez, Javier (Institut de Biologia Evolutiva (Barcelona)) ; Creevey, Christopher J. (Aberystwyth University. Institute of Biological, Environmental and Rural Sciences) ; Aspden, Julie L. (University of Leeds. School of Molecular and Cellular Biology) ; McInerney, James O. (University of Nottingham. School of Life Sciences) ; Marques-Bonet, Tomas (Institut Català de Paleontologia Miquel Crusafont) ; O'Connell, Mary J. (University of Nottingham. School of Life Sciences)
Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail have been associated with novel functions, for example, the hominid-specific PIPSL gene, TNFSF12, and the TWE-PRIL gene family. [...]
2019 - 10.1093/gbe/evz163
Genome biology and evolution, Vol. 11, Issue 9 (September 2019) , p. 2678-2690  
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19 p, 3.0 MB Dynamics of chromatin accessibility and gene regulation by MADS-domain transcription factors in flower development / Pajoro, Alice (Wageningen University. Laboratory of Molecular Biology) ; Madrigal, Pedro (Polish Academy of Sciences. Institute of Plant Genetics) ; Muiño, Jose M. (Max-Planck Institute for Molecular Genetics. Department of Computational Molecular Biology) ; Matus, José Tomás (Centre de Recerca en Agrigenòmica) ; Jin, Jian (Centre de Recerca en Agrigenòmica) ; Mecchia, Martin A. (Instituto de Biología Molecular y Celular de Rosario) ; Debernardi, Juan M. (Instituto de Biología Molecular y Celular de Rosario) ; Palatnik, Javier F. (Instituto de Biología Molecular y Celular de Rosario) ; Balazadeh, Salma (University of Potsdam. Institute of Biochemistry and Biology) ; Arif, Muhammad (University of Potsdam. Institute of Biochemistry and Biology) ; Ó'Maoiléidigh, Diarmuid S. (Trinity College Dublin. Smurfit Institute of Genetics) ; Wellmer, Frank (Trinity College Dublin. Smurfit Institute of Genetics) ; Krajewski, Pawel (Polish Academy of Sciences. Institute of Plant Genetics) ; Riechmann, José Luis (Institució Catalana de Recerca i Estudis Avançats) ; Angenent, Gerco C. (Business Unit Bioscience. Plant Research International) ; Kaufmann, Kerstin (University of Potsdam. Institute of Biochemistry and Biology)
Background: Development of eukaryotic organisms is controlled by transcription factors that trigger specific and global changes in gene expression programs. In plants, MADS-domain transcription factors act as master regulators of developmental switches and organ specification. [...]
2014 - 10.1186/gb-2014-15-3-r41
Genome biology, Vol. 15 (March 2014) , p. R41  
10.
14 p, 627.9 KB Genetic variation in pan species is shaped by demographic history and harbors lineage-specific functions / Han, Sojung, 1984- (Institut de Biologia Evolutiva (Barcelona)) ; Andrés, Aida M. (UCL Genetics Institute) ; Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Kuhlwilm, Martin (Institut de Biologia Evolutiva (Barcelona)) ; Universitat Autònoma de Barcelona
Chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the closest living relatives of humans, but the two species show distinct behavioral and physiological differences, particularly regarding female reproduction. [...]
2019 - 10.1093/gbe/evz047
Genome biology and evolution, Vol. 11, Issue 4 (April 2019) , p. 1178-1191  

Dipòsit Digital de Documents de la UAB : 27 registres trobats   1 - 10següentfinal  anar al registre:
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