Depósito Digital de Documentos de la UAB Encontrados 13 registros  1 - 10siguiente  ir al registro: La búsqueda tardó 0.02 segundos. 
1.
12 p, 2.2 MB FANCA Gene Mutations in North African Fanconi Anemia Patients / Ben Haj Ali, Abir (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Messaoud, Olfa (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Elouej, Sahar (INSERM, MMG, UMR 1251, Aix Marseille University) ; Talmoudi, Faten (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Ayed, Wiem (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Mellouli, Fethi (Department of Peadiatric Immuno-Haematology, National Bone Marrow Transplantation) ; Ouederni, Monia (Department of Peadiatric Immuno-Haematology, National Bone Marrow Transplantation) ; Hadiji, Sondes (Haematology Department, Hedi Chaker Hospital, University of Sfax) ; De Sandre-Giovannoli, Annachiara (INSERM, MMG, UMR 1251, Aix Marseille University) ; Delague, Valérie (INSERM, MMG, UMR 1251, Aix Marseille University) ; Lévy, Nicolas (INSERM, MMG, UMR 1251, Aix Marseille University) ; Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Abdelhak, Sonia (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Amouri, Ahlem (Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Université Tunis El Manar) ; Universitat Autònoma de Barcelona
Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like Fanconi anemia (FA). [...]
2021 - 10.3389/fgene.2021.610050
Frontiers in genetics, Vol. 12 (february 2021)  
2.
21 p, 653.7 KB Genomics of evolutionary novelty in hybrids and polyploids / Nieto Feliner, Gonzalo (Real Jardín Botánico. Departamento de Biodiversidad y Conservación) ; Casacuberta i Suñer, Josep M. 1962- (Centre de Recerca en Agrigenòmica) ; Wendel, Jonathan F. (Iowa State University. Department of Ecology, Evolution, and Organismal Biology (USA))
It has long been recognized that hybridization and polyploidy are prominent processes in plant evolution. Although classically recognized as significant in speciation and adaptation, recognition of the importance of interspecific gene flow has dramatically increased during the genomics era, concomitant with an unending flood of empirical examples, with or without genome doubling. [...]
2020 - 10.3389/fgene.2020.00792
Frontiers in genetics, Vol. 11 (July 2020) , art. 792  
3.
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) ; Perez-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  
4.
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)  
5.
19 p, 1001.5 KB The ATM signaling network in development and disease / Stracker, Travis H. (Institut de Recerca Biomèdica) ; Roig, I. (Ignasi) (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Knobel, Philip A. (Institut de Recerca Biomèdica) ; Marjanović, Marko (Institut de Recerca Biomèdica) ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
The DNA damage response (DDR) rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence (Jackson and Bartek, 2009). [...]
2013 - 10.3389/fgene.2013.00037
Frontiers in genetics, Vol. 4 (March 2013) , art. 37  
6.
12 p, 3.0 MB Mapping Recombination Rate on the Autosomal Chromosomes Based on the Persistency of Linkage Disequilibrium Phase Among Autochthonous Beef Cattle Populations in Spain / Mouresan, E.F. (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal.) ; González-Rodríguez, A. (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal.) ; Cañas Álvarez, Jhon Jacobo (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Munilla, S. (Universidad de Buenos Aires. Departamento de Producción Animal) ; Altarriba, J. (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal.) ; Díaz, C. (Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA). Departamento de Mejora Genética Animal.) ; Baró, J.A. (Instituto Agroalimentario de Aragón (IA2)) ; Molina, A. (Departamento de Ciencias Agroforestales. Universidad de Valladolid) ; Lopez-Buesa, P. (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal.) ; Piedrafita Arilla, Jesús (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ; Varona, L. (Universidad de Zaragoza. Departamento de Anatomía, Embriología y Genética Animal.)
In organisms with sexual reproduction, genetic diversity, and genome evolution are governed by meiotic recombination caused by crossing-over, which is known to vary within the genome. In this study, we propose a simple method to estimate the recombination rate that makes use of the persistency of linkage disequilibrium (LD) phase among closely related populations. [...]
2019 - 10.3389/fgene.2019.01170
Frontiers in genetics, Vol. 10 (20 2019) , p. 1170  
7.
8 p, 1.5 MB Identification and characterization of new RNASEH1 mutations associated with PEO syndrome and multiple mitochondrial DNA deletions / Carreño-Gago, L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Blázquez-Bermejo, C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau) ; Cámara, Y. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gallardo, E. (Institut d'Investigació Biomèdica Sant Pau) ; Martí, R. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; García-Arumí, E. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adult onset progressive external ophthalmoplegia (PEO). [...]
2019 - 10.3389/fgene.2019.00576
Frontiers in genetics, Vol. 10 Núm. JUN (2019) , p. 576  
8.
24 p, 2.0 MB Recent advances in the targeting of epigenetic regulators in b-cell non-hodgkin lymphoma / Ribeiro, ML (VHIO) ; Reyes Garau, Diana (VHIO) ; Armengol, Marc Antoni (VHIO) ; Roué, Gaël (VHIO) ; Universitat Autònoma de Barcelona
In the last 10 years, major advances have been made in the diagnosis and development of selective therapies for several blood cancers, including B-cell non-Hodgkin lymphoma (B-NHL), a heterogeneous group of malignancies arising from the mature B lymphocyte compartment. [...]
2019 - 10.3389/fgene.2019.00986
Frontiers in genetics, Vol. 10 Núm. OCT (2019) , p. 986  
9.
14 p, 1.0 MB A RNA-seq analysis to describe the boar sperm transcriptome and its seasonal changes / Gòdia, Marta (Centre de Recerca en Agrigenòmica) ; Estill, Molly (Wayne State University. Department of Obstetrics and Gynecology) ; Castelló Farré, Anna (Centre de Recerca en Agrigenòmica) ; Balasch, Sam (Grup Gepork S.A.) ; Rodríguez-Gil, Joan E. (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ; Krawetz, Stephen A. (Wayne State University. Department of Obstetrics and Gynecology) ; Sánchez Bonastre, Armando (Centre de Recerca en Agrigenòmica) ; Clop, Alex (Centre de Recerca en Agrigenòmica) ; Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments
Understanding the molecular basis of cell function and ultimate phenotypes is crucial for the development of biological markers. With this aim, several RNA-seq studies have been devoted to the characterization of the transcriptome of ejaculated spermatozoa in relation to sperm quality and fertility. [...]
2019 - 10.3389/fgene.2019.00299
Frontiers in genetics, Vol. 10 (April 2019) , art. 299  
10.
6 p, 757.8 KB Flow sorting enrichment and nanopore sequencing of chromosome 1 from a Chinese individual / Kuderna, Lukas F.K. (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ; Solís Moruno, Manuel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Batlle Masó, Laura (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Julià, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ; Lizano, Esther (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ; Anglada, Roger (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Ramírez, Erika (Institut de Ciència i Tecnologia de Barcelona. Centre de Regulació Genòmica. Unitat de Citometria de Flux) ; Bote, Alex (Institut de Ciència i Tecnologia de Barcelona. Centre de Regulació Genòmica. Unitat de Citometria de Flux) ; Tormo, Marc (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Marques-Bonet, Tomas (Institut Català de Paleontologia Miquel Crusafont) ; Fornas, Òscar (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unamplified DNA and applied it to the smallest human chromosome, the Y chromosome. [...]
2020 - 10.3389/fgene.2019.01315
Frontiers in genetics, Vol. 10 (January 2020) , art. 1315  

Depósito Digital de Documentos de la UAB : Encontrados 13 registros   1 - 10siguiente  ir al registro:
¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.