UAB Digital Repository of Documents 109 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
1.
11 p, 1.4 MB Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions / Ramírez-Ayala, Lino César (Centre de Recerca en Agrigenòmica) ; Rocha, Dominique (Institut national de la recherche agronomique. Génétique Animale et Biologie Intégrative) ; Ramos-Onsins, Sebastian (Centre de Recerca en Agrigenòmica) ; Leno Colorado, Jordi (Centre de Recerca en Agrigenòmica) ; Charles, Mathieu (Institut national de la recherche agronomique. Génétique Animale et Biologie Intégrative) ; Bouchez, Olivier (Institut national de la recherche agronomique. GeT-PlaGe) ; Rodríguez Valera, Yoel (Universidad de Granma. Facultad de Ciencias Agropecuarias) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica) ; Ramayo-Caldas, Yuliaxis (Institut de Recerca i Tecnologia Agroalimentàries)
In the early 20th century, Cuban farmers imported Charolais cattle (CHFR) directly from France. These animals are now known as Chacuba (CHCU) and have become adapted to the rough environmental tropical conditions in Cuba. [...]
2021 - 10.1186/s12711-020-00597-9
Genetics, selection, evolution, Vol. 53 (2021)  
2.
Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder : lessons from CNTNAP2, ADGRL3, and PARK2 / Dalla Vecchia, Elisa (Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK) ; Mortimer, Niall (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Palladino, Viola S. (Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt Am Main, Germany) ; Kittel-Schneider, Sarah (Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt Am Main, Germany) ; Lesch, Klaus-Peter (Department of Translational Neuroscience, School of Mental Health and Neuroscience, Maastricht University, Maastricht) ; Reif, Andreas (Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt Am Main, Germany) ; Schenck, Annette (Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands) ; Norton, William H.J. (Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK) ; Universitat Autònoma de Barcelona
Animal and cellular models are essential tools for all areas of biological research including neuroscience. Model systems can also be used to investigate the pathophysiology of psychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). [...]
2018 - 10.1097/YPG.0000000000000211
Psychiatric Genetics, Vol. 29 (november 2018) , p. 1-17  
3.
9 p, 439.8 KB Three-dimensional imaging in myotonic dystrophy type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol) ; Almendrote, Miriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Guanyabens, Nicolau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lopez-Osias, Marta (Institut Germans Trias i Pujol) ; Suárez-Mesa, Adrián (Institut Germans Trias i Pujol) ; Hanick, Shaliza Ann (Institut Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Lucia, Alejandro (Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales-Gadea, Gisela (Institut Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. [...]
2020 - 10.1212/NXG.0000000000000484
Neurology: Genetics, Vol. 6 (july 2020)  
4.
9 p, 1.0 MB Estimating conformational traits in dairy cattle with deepAPS : A two-step deep learning automated phenotyping and segmentation approach / Nye, Jessica (Centre de Recerca en Agrigenòmica) ; Zingaretti, Laura M. (Centre de Recerca en Agrigenòmica) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica)
Assessing conformation features in an accurate and rapid manner remains a challenge in the dairy industry. While recent developments in computer vision has greatly improved automated background removal, these methods have not been fully translated to biological studies. [...]
2020 - 10.3389/fgene.2020.00513
Frontiers in genetics, Vol. 11 (May 2020) , art. 513  
5.
9 p, 1.1 MB Epigenetic-Transcriptional Regulation of Fatty Acid Metabolism and Its Alterations in Leukaemia / Maher, Michael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Diesch, Jeannine (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Casquero, Raquel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
In recent years fatty acid metabolism has gained greater attention in haematologic cancers such as acute myeloid leukaemia. The oxidation of fatty acids provides fuel in the form of ATP and NADH, while fatty acid synthesis provides building blocks for cellular structures. [...]
2018 - 10.3389/fgene.2018.00405
Frontiers in genetics, Vol. 9 (september 2018)  
6.
25 p, 24.0 MB AAV9-mediated telomerase activation does not accelerate tumorigenesis in the context of oncogenic K-Ras-induced lung cancer / Muñoz-Lorente, Miguel A. (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Martínez, Paula (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Tejera, Águeda (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Whittemore, Kurt (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Moisés-Silva, Ana Carolina (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Blasco, María A. (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO))
Short and dysfunctional telomeres are sufficient to induce a persistent DNA damage response at chromosome ends, which leads to the induction of senescence and/or apoptosis and to various age-related conditions, including a group of diseases known as "telomere syndromes", which are provoked by extremely short telomeres owing to germline mutations in telomere genes. [...]
2018 - 10.1371/journal.pgen.1007562
PLoS Genetics, Vol. 14 (august 2018)  
7.
5 p, 250.5 KB Elosulfase alfa for mucopolysaccharidosis type IVA : Real-world experience in 7 patients from the Spanish Morquio-A early access program / Pintos Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Blasco Alonso, Javier (Hospital Regional Universitario de Málaga) ; Couce, María L. (Hospital Clínico Universitario de Santiago) ; Gutiérrez-Solana, Luís G. (Hospital Infantil Universitario Niño Jesús) ; Guillén-Navarro, Encarna (IMIB - Arrixaca, Murcia) ; O'Callaghan, Mar (Hospital Sant Joan de Déu, Esplugues, Barcelona) ; del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. [...]
2018 - 10.1016/j.ymgmr.2018.03.009
Molecular Genetics and Metabolism Reports, Vol. 15 (april 2018) , p. 116-120  
8.
12 p, 2.3 MB A multivariate analysis with direct additive and inbreeding depression load effects / Varona, Luis (Universidad de Zaragoza. Departamento de Anatomía Embriología y Genética Animal, Instituto Agroalimentario de Aragón (IA2)) ; Altarriba, Juan (Universidad de Zaragoza. Departamento de Anatomía Embriología y Genética Animal, Instituto Agroalimentario de Aragón (IA2)) ; Moreno, Carlos (Universidad de Zaragoza. Departamento de Anatomía Embriología y Genética Animal, Instituto Agroalimentario de Aragón (IA2)) ; Martínez-Castillero, María (Università degli Studi di Padova. Dipartimento di Agronomia Animali, Alimenti Risorce Naturali e Ambiente) ; Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Inbreeding is caused by mating between related individuals and its most common consequence is inbreeding depression. Several studies have detected heterogeneity in inbreeding depression among founder individuals, and recently a procedure for predicting hidden inbreeding depression loads associated with founders and the Mendelian sampling of non-founders has been developed. [...]
2019 - 10.1186/s12711-019-0521-3
Genetics, selection, evolution, Vol. 51 (december 2019)  
9.
35 p, 2.6 MB Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta) / Brasó-Vives, Marina (Laboratoire de Biométrie et Biologie Évolutive UMR 5558, Université de Lyon, Université Lyon 1, CNRS, Villeurbanne, France) ; Povolotskaya, Inna S. (Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia) ; Hartasánchez, Diego A. (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain) ; Farré, Xavier (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain) ; Fernández Callejo, Marcos (National Centre for Genomic Analysis-Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain) ; Raveendran, Muthuswamy (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Harris, R. Alan (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Rosene, Douglas L. (Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Lorente-Galdos, Belen (Department of Neuroscience, Yale School of Medicine, New Haven, Connecticut, United States of America) ; Navarro, A, 1969- (Institució Catalana de Recerca i Estudis Avançats, Barcelona, Catalonia, Spain) ; Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Rogers, Jeffrey (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Juan, David (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain)
The rhesus macaque is an abundant species of Old World monkeys and a valuable model organism for biomedical research due to its close phylogenetic relationship to humans. Copy number variation is one of the main sources of genomic diversity within and between species and a widely recognized cause of inter-individual differences in disease risk. [...]
2020 - 10.1371/journal.pgen.1008742
PLoS Genetics, Vol. 16 (may 2020)  
10.
11 p, 594.5 KB Identification of rumen microbial biomarkers linked to methane emission in Holstein dairy cows / Ramayo-Caldas, Yuliaxis (Institut de Recerca i Tecnologia Agroalimentàries. Torre Marimon) ; Zingaretti, Laura M. (Centre de Recerca en Agrigenòmica) ; Popova, Milka (Université Clermont Auvergne. Institut National de la Recherche Agronomique. VetAgro Sup (France)) ; Estellé Fabrellas, Jordi (Université Paris-Saclay. Institut National de la Recherche Agronomique. Génétique Animale et Biologie Intégrative (France)) ; Bernard, Aurelien (Université Clermont Auvergne. Institut National de la Recherche Agronomique. VetAgro Sup (France)) ; Pons, Nicolas (Institut National de la Recherche Agronomique. Metagenopolis Unit (France)) ; Bellot, Pau (Centre de Recerca en Agrigenòmica) ; Mach, Núria (Université Paris-Saclay. Institut National de la Recherche Agronomique. AgroParisTech (France)) ; Rau, Andrea (Université Paris-Saclay. Institut National de la Recherche Agronomique. AgroParisTech (France)) ; Roume, Hugo (Institut National de la Recherche Agronomique. Metagenopolis Unit (France)) ; Perez-Enciso, Miguel (Centre de Recerca en Agrigenòmica) ; Faverdin, Philippe (Institut National de la Recherche Agronomique. Agrocampus-Ouest (France)) ; Edouard, Nadège (Institut National de la Recherche Agronomique. Agrocampus-Ouest (France)) ; Ehrlich, Dusko (Institut National de la Recherche Agronomique. Metagenopolis Unit (France)) ; Morgavi, Diego P. (Université Clermont Auvergne. Institut National de la Recherche Agronomique (France)) ; Renand, Gilles (Université Paris-Saclay. Institut National de la Recherche Agronomique. AgroParisTech (France))
Mitigation of greenhouse gas emissions is relevant for reducing the environmental impact of ruminant production. In this study, the rumen microbiome from Holstein cows was characterized through a combination of 16S rRNA gene and shotgun metagenomic sequencing. [...]
2020 - 10.1111/jbg.12427
Journal of Animal Breeding and Genetics, Vol. 137, Issue 1 (January 2020) , p. 49-59  

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