UAB Digital Repository of Documents 14 records found  1 - 10next  jump to record: Search took 0.01 seconds. 
1.
13 p, 5.7 MB High-resolution simulations of chromatin folding at genomic rearrangements in malignant B cells provide mechanistic insights into proto-oncogene deregulation / Rico, Daniel (Newcastle University) ; Kent, Daniel (Newcastle University) ; Karataraki, Nefeli (Newcastle University) ; Mikulasova, Aneta (Newcastle University) ; Berlinguer-Palmini, Ronaldo (Newcastle University) ; Walker, Brian A. (Indiana University) ; Javierre, B. M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Russell, Lisa J. (Newcastle University) ; Brackley, Chris A. (University of Edinburgh)
Genomic rearrangements are known to result in proto-oncogene deregulation in many cancers, but the link to 3D genome structure remains poorly understood. Here, we used the highly predictive heteromorphic polymer (HiP-HoP) model to predict chromatin conformations at the proto-oncogene CCND1 in healthy and malignant B cells. [...]
2022 - 10.1101/gr.276028.121
Genome research, Vol. 32 Núm. 8 (july 2022) , p. 1355-1366  
2.
21 p, 473.3 KB Meiotic abnormalities in infertile males / Egozcue, Josep 1940-2006 (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Sarrate Navas, Zaida (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Codina-Pascual, Montserrat (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Egozcue, Susana (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Oliver Bonet, Maria (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Blanco, Joan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Navarro i Ferreté, Joaquima (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Benet i Català, Jordi (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Vidal, Francesca (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Meiotic anomalies, as reviewed here, are synaptic chromosome abnormalities, limited to germ cells that cannot be detected through the study of the karyotype. Although the importance of synaptic errors has been underestimated for many years, their presence is related to many cases of human male infertility. [...]
2005 - 10.1159/000086907
Cytogenetic and Genome Research, Vol. 111 N. 3-4 (sep. 2005) , p. 337-342  
3.
15 p, 19.7 MB A single-cell tumor immune atlas for precision oncology / Nieto, Paula (Centre de Regulació Genòmica) ; Elosua-Bayes, Marc (Centre de Regulació Genòmica) ; Trincado Alonso, Juan Luis, 1987- (Centre de Regulació Genòmica) ; Marchese, Domenica (Centre de Regulació Genòmica) ; Massoni-Badosa, Ramon (Centre de Regulació Genòmica) ; Salvany, Maria (Institut Recerca Biomèdica de Barcelona) ; Henriques, Ana (Institut Recerca Biomèdica de Barcelona) ; Nieto Sáchica, Juan Camilo (Centre de Regulació Genòmica) ; Aguilar-Fernández, Sergio (Centre de Regulació Genòmica) ; Mereu, Elisabetta (Centre de Regulació Genòmica) ; Moutinho, Catia (Centre de Regulació Genòmica) ; Ruiz, Sara (Centre de Regulació Genòmica) ; Lorden, Patricia (Centre de Regulació Genòmica) ; Chin, Vanessa T. (St. Vincent Hospital Sydney) ; Kaczorowski, Dominik (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Chan, Chia Ling (Garvan Institute of Medical Research (Darlinghurst, Austràlia)) ; Gallagher, Richard (University of Notre Dame) ; Chou, Angela (University of Sydney) ; Planas-Rigol, Ester (Vall d'Hebron Institut d'Oncologia) ; Rubio-Perez, Carlota (Vall d'Hebron Institut d'Oncologia) ; Gut, Ivo (Centre de Regulació Genòmica) ; Piulats, Josep M. (Institut Català d'Oncologia) ; Seoane Suárez, Joan (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Powell, Joseph E. (University of New South Wales) ; Batlle, Eduard (Centro de Investigación Biomédica en Red de Cáncer) ; Heyn, Holger (Universitat Pompeu Fabra)
2021 - 10.1101/gr.273300.120
Genome research, Vol. 31 Núm. 10 (october 2021) , p. 1913-1926  
4.
16 p, 5.0 MB Transcriptome innovations in primates revealed by single-molecule long-read sequencing / Ferrández-Peral, Luis (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Zhan, Xiaoyu (BGI-Shenzhen) ; Alvarez-Estape, Marina (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Chiva, Cristina (Centre de Regulació Genòmica) ; Esteller-Cucala, Paula (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; García Perez, Raquel (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Julià, Eva (Centre de Regulació Genòmica) ; Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ; Fornas, Òscar (Centre de Regulació Genòmica) ; Sabidó, Eduard (Centre de Regulació Genòmica) ; Li, Qiye (BGI-Shenzhen) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Juan, David (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Zhang, Guojie
Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much of the actual isoform repertoire contributing to shaping primate evolution remains unknown. [...]
2022 - 10.1101/gr.276395.121
Genome research, Published in Advance July 15, 2022
2 documents
5.
14 p, 1.4 MB H3K4me1 marks DNA regions hypomethylated during aging in human stem and differentiated cells / Fernández, Agustín F. (Universidad de Oviedo) ; Fernández Bayón, Gustavo (Universidad de Oviedo) ; Urdinguio, Rocío G. (Universidad de Oviedo) ; Toraño, Estela G. (Universidad de Oviedo) ; García, María G. (Universidad de Oviedo) ; Carella, Antonella (Universidad de Oviedo) ; Petrus-Reurer, Sandra (Universidad de Oviedo) ; Ferrero, Cecilia (Universidad de Oviedo) ; Martinez-Camblor, Pablo (Oficina de Investigación Biosanitaria (OIB-FICYT) de Asturias) ; Cubillo, Isabel (Instituto de Salud Carlos III) ; Garcia-Castro, Javier (Instituto de Salud Carlos III) ; Delgado-Calle, Jesús (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Pérez-Campo, Flor M. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Riancho, José A. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Mentink, Anouk (University of Twente) ; Mareschi, Katia (University of Turin) ; Claire, Fabian (University of Leipzig) ; Fagnani, Corrado (Istituto Superiore di Sanità (Roma, Itàlia)) ; Medda, Emanuela (Istituto Superiore di Sanità (Roma, Itàlia)) ; Toccaceli, Virgilia (Istituto Superiore di Sanità (Roma, Itàlia)) ; Brescianini, Sonia (Istituto Superiore di Sanità (Roma, Itàlia)) ; Moran, S (Institut d'Investigació Biomèdica de Bellvitge) ; Esteller, M (Universitat de Barcelona. Departament de Ciències Fisiològiques II) ; Stolzing, Alexandra (Loughborough University) ; de Boer, Jan (Maastricht University) ; Nisticò, Lorenza (Istituto Superiore di Sanità (Roma, Itàlia)) ; Stazi, Maria A. (Istituto Superiore di Sanità (Roma, Itàlia)) ; Fraga, Mario F. (Universidad de Oviedo)
In differentiated cells, aging is associated with hypermethylation of DNA regions enriched in repressive histone post-translational modifications. However, the chromatin marks associated with changes in DNA methylation in adult stem cells during lifetime are still largely unknown. [...]
2015 - 10.1101/gr.169011.113
Genome research, Vol. 25 (january 2015) , p. 27-40  
6.
14 p, 1.8 MB Engineered LINE-1 retrotransposition in nondividing human neurons / Macia, Angela (Universidad de Granada) ; Widmann, Thomas J. (Universidad de Granada) ; Heras, Sara R. (Universidad de Granada) ; Ayllon, Veronica (University of Granada) ; Sánchez, Laura (Universidad de Granada) ; Benkaddour-Boumzaouad, Meriem (Universidad de Granada) ; Muñoz-Lopez, Martin (Universidad de Granada) ; Rubio, Alejandro (Universidad de Granada) ; Amador-Cubero, Suyapa (Universidad de Granada) ; Blanco-Jimenez, Eva (Universidad de Granada) ; Garcia-Castro, Javier (Unidad de Biotecnología Celular, ISCIII) ; Menendez, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Ng, Philip (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston) ; Muotri, Alysson R. (Hospital San Diego, University of California San Diego, La Jolla) ; Goodier, John L. (Johns Hopkins University School of Medicine, Baltimore) ; Garcia-Perez, Jose L. (University of Edinburgh, Western General Hospital)
Half the human genome is made of transposable elements (TEs), whose ongoing activity continues to impact our genome. LINE-1 (or L1) is an autonomous non-LTR retrotransposon in the human genome, comprising 17% of its genomic mass and containing an average of 80-100 active L1s per average genome that provide a source of inter-individual variation. [...]
2017 - 10.1101/gr.206805.116
Genome research, Vol. 27 (march 2017) , p. 335-348  
7.
13 p, 1.8 MB Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations / Brammeld, Jonathan S. (Wellcome Trust Sanger Institute (Regne Unit)) ; Petljak, Mia (Wellcome Trust Sanger Institute (Regne Unit)) ; Martincorena, Inigo (Wellcome Trust Sanger Institute (Regne Unit)) ; Williams, Steven P. (Wellcome Trust Sanger Institute (Regne Unit)) ; García Alonso, Luz (European Molecular Biology Laboratory (Regne Unit)) ; Dalmases, Alba (Hospital del Mar (Barcelona, Catalunya)) ; Bellosillo Paricio, Beatriz (Hospital del Mar (Barcelona, Catalunya)) ; Robles-Espinoza, Carla Daniela (Universidad Nacional Autónoma de México) ; Price, Stacey (Wellcome Trust Sanger Institute (Regne Unit)) ; Barthorpe, Syd (Wellcome Trust Sanger Institute (Regne Unit)) ; Tarpey, Patrick (Wellcome Trust Sanger Institute (Regne Unit)) ; Alifrangis, Constantine (Wellcome Trust Sanger Institute (Regne Unit)) ; Bignell, Graham (Wellcome Trust Sanger Institute (Regne Unit)) ; Vidal, Joana (Institut Hospital del Mar d'Investigacions Mèdiques) ; Young, Jamie (Wellcome Trust Sanger Institute (Regne Unit)) ; Stebbings, Lucy (Wellcome Trust Sanger Institute (Regne Unit)) ; Beal, Kathryn (Wellcome Trust Sanger Institute (Regne Unit)) ; Stratton, Michael R. (Wellcome Trust Sanger Institute (Regne Unit)) ; Saez-Rodriguez, Julio (University Hospital Aachen (Alemanya)) ; Garnett, Mathew (Wellcome Trust Sanger Institute (Regne Unit)) ; Montagut, Clara (Institut Hospital del Mar d'Investigacions Mèdiques) ; Iorio, Francesco (European Molecular Biology Laboratory (Regne Unit)) ; McDermott, Ultan (Wellcome Trust Sanger Institute (Regne Unit)) ; Universitat Autònoma de Barcelona
Drug resistance is an almost inevitable consequence of cancer therapy and ultimately proves fatal for the majority of patients. In many cases, this is the consequence of specific gene mutations that have the potential to be targeted to resensitize the tumor. [...]
2017 - 10.1101/gr.213546.116
Genome research, Vol. 27 (april 2017) , p. 613-625  
8.
14 p, 3.8 MB Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution / Maggiolini, Flavia Angela Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Sanders, Ashley D. (European Molecular Biology Laboratory) ; Shew, Colin James (University of California. Department of Biochemistry & Molecular Medicine) ; Sulovari, Arvis (University of Washington School of Medicine. Department of Genome Sciences) ; Mao, Yafei (University of Washington School of Medicine. Department of Genome Sciences) ; Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Catacchio, Claudia Rita (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Dellino, Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Palmisano, Donato (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Mercuri, Ludovica (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Bitonto, Miriana (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Porubský, David (University of Washington School of Medicine. Department of Genome Sciences) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Eichler, Evan E. (University of Washington. Howard Hughes Medical Institute) ; Ventura, Mario (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Dennis, Megan Y. (University of California. Department of Biochemistry & Molecular Medicine) ; Korbel, Jan O. (European Molecular Biology Laboratory) ; Antonacci, Francesca (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25 Myr ago and is an important animal model for human disease studies. A deep understanding of its genetics is therefore required for both biomedical and evolutionary studies. [...]
2020 - 10.1101/gr.265322.120
Genome research, Vol. 30, Issue 11 (November 2020) , p. 1680-1693  
9.
13 p, 3.0 MB Copy number variation underlies complex phenotypes in domestic dog breeds and other canids / Serres-Armero, Aitor (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Davis, Brian W. (Texas A&M University. Department of Veterinary Integrative Biosciences) ; Povolotskaya, Inna S. (Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University) ; Morcillo-Suarez, Carlos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Plassais, Jocelyn (National Institutes of Health. Cancer Genetics and Comparative Genomics Branch) ; Juan, David (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Ostrander, Elaine A. (National Institutes of Health. Cancer Genetics and Comparative Genomics Branch) ; Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont)
Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant part of inter-individual genomic diversity in other systems. [...]
2021 - 10.1101/gr.266049.120
Genome research, Vol. 31 (May 2021) , p. 762-774  
10.
13 p, 2.2 MB Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR / Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lerga Jaso, Jon (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner-Delgado, Carla (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pacheco, Sarai (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Izquierdo Fontanills, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Delprat Obeaga, Alejandra (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (University of Porto. CIBIO/InBIO Research Center in Biodiversity and Genetic Resources (Portugal)) ; Regan, Jack F. (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Karlin Neumann, George (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite the interest in characterizing genomic variation, the presence of large repeats at the breakpoints hinders the analysis of many structural variants. This is especially problematic for inversions, since there is typically no gain or loss of DNA. [...]
2020 - 10.1101/gr.255273.119
Genome research, Vol. 30, Issue 5 (May 2020) , p. 724-735  

UAB Digital Repository of Documents : 14 records found   1 - 10next  jump to record:
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.