UAB Digital Repository of Documents 23 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
1.
12 p, 568.9 KB Admixture has shaped romani genetic diversity in clinically relevant variants / Font-Porterias, Neus (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Giménez, Aaron (Universitat Autònoma de Barcelona) ; Carballo-Mesa, Annabel (Universitat de Barcelona) ; Calafell, Francesc (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Comas, D (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Genetic patterns of inter-population variation are a result of different demographic and adaptive histories, which gradually shape the frequency distribution of the variants. However, the study of clinically relevant mutations has a Eurocentric bias. [...]
2021 - 10.3389/fgene.2021.683880
Frontiers in genetics, Vol. 12 (june 2021)  
2.
10 p, 531.5 KB The MacroH2A1.1 - PARP1 Axis at the Intersection Between Stress Response and Metabolism / Hurtado-Bagès, Sarah (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Guberovic, Iva (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Medicina Predictiva i Personalitzada del Càncer) ; Universitat Autònoma de Barcelona
The exchange of replication-coupled canonical histones by histone variants endows chromatin with specific features. The replacement of the canonical H2A histone for the histone variant macroH2A is one of the most remarkable epigenetic modifications. [...]
2018 - 10.3389/fgene.2018.00417
Frontiers in genetics, Vol. 9 (october 2018)  
3.
12 p, 1.2 MB MicroRNA-1291 Is Associated With Locoregional Metastases in Patients With Early-Stage Breast Cancer / Escuin, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; López-Vilaró, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Bell, Olga (Institut d'Investigació Biomèdica Sant Pau) ; Mora Brugués, Josefina (Institut d'Investigació Biomèdica Sant Pau) ; Moral, Antonio (Universitat Autònoma de Barcelona. Departament de Medicina) ; Pérez, José Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Arqueros, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Lerma Puertas, Enrique (Universitat Autònoma de Barcelona. Departament de Medicina) ; Barnadas i Molins, Agustí (Centro de Investigación Biomédica en Red de Cáncer)
Evidence that microRNAs (miRNAs) regulate the various steps of metastasis is increasing. Several studies have looked at the miRNA expression profile in primary breast tumors but few have compared primary tumor and sentinel lymph node (SLN) metastasis. [...]
2020 - 10.3389/fgene.2020.562114
Frontiers in genetics, Vol. 11 (december 2020)  
4.
15 p, 2.0 MB High-Throughput Sequencing to Investigate Associations Between HLA Genes and Metamizole-Induced Agranulocytosis / Cismaru, Anca Liliana (University of Bern) ; Grimm, Livia (Bern University Hospital) ; Rudin, Deborah (University of Basel) ; Ibáñez, Luisa (Hospital Universitari de la Vall d'Hebron) ; Liakoni, Evangelia (University of Bern) ; Bonadies, Nicolas (Bern University Hospital) ; Kreutz, Reinhold (Charité - Universitätsmedizin Berlin) ; Hallberg, Pär (Uppsala University) ; Wadelius, Mia (Uppsala University) ; Haschke, Manuel (University of Bern) ; Largiadèr, Carlo R. (Bern University Hospital) ; Amstutz, Ursula (Bern University Hospital) ; Universitat Autònoma de Barcelona
Background and Objective: Agranulocytosis is a rare and potentially life-threatening complication of metamizole (dipyrone) intake that is characterized by a loss of circulating neutrophil granulocytes. [...]
2020 - 10.3389/fgene.2020.00951
Frontiers in genetics, Vol. 11 (august 2020)  
5.
16 p, 3.7 MB Genetic Diversity of Bubalus bubalis in Germany and Global Relations of Its Genetic Background / Noce, Antonia (Leibniz-Institute for Farm Animal Biology) ; Qanbari, Saber (Leibniz-Institute for Farm Animal Biology) ; González Prendes, Rayner (Wageningen University & Research. Animal Breeding and Genomics) ; Brenmoehl, Julia (Leibniz-Institute for Farm Animal Biology) ; Luigi Sierra, Maria Gracia (Centre de Recerca en Agrigenòmica) ; Theerkorn, Michael (Hof am Meer GmBH) ; Fiege, Marc-André (Gut Darss, GmbH & Co. KG) ; Pilz, Heike (Wiesenburger Land eG) ; Bota, Adrian (Research and Development Station for Buffalos Şercaia) ; Vidu, Livia (University of Agronomic Sciences and Veterinary Medicine of Bucharest) ; Horwath, Csaba (Comuna Baciu sat Mera) ; Haraszthy, László (Pro Vértes) ; Penchev, Pencho (Bulgarian National Association for Development of Buffalo Breeding) ; Ilieva, Yordanka (Bulgarian National Association for Development of Buffalo Breeding) ; Peeva, Tzonka (Bulgarian National Association for Development of Buffalo Breeding) ; Lüpcke, Wolfgang (Agricultural University Plovdiv. Higher School in Agribusiness and Development of Regions) ; Krawczynski, René (Energiequelle GmbH) ; Wimmers, Klaus (Leibniz-Institute for Farm Animal Biology) ; Thiele, Manfred (German Buffalo Association) ; Hoeflich, Andreas (Leibniz-Institute for Farm Animal Biology)
This is the first study to explore the genetic diversity and population structure of domestic water buffalo (Bubalus bubalis) in Germany and their potential relations to herds in other parts of Europe or worldwide. [...]
2021 - 10.3389/fgene.2020.610353
Frontiers in genetics, Vol. 11 (January 2021) , art. 610353  
6.
12 p, 2.2 MB FANCA Gene Mutations in North African Fanconi Anemia Patients / Ben Haj Ali, Abir (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Messaoud, Olfa (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Elouej, Sahar (INSERM, MMG, UMR 1251, Aix Marseille University) ; Talmoudi, Faten (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Ayed, Wiem (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; 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 (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; Amouri, Ahlem (Institut Pasteur de Tunis. Laboratory of Biomedical Genomics and Oncogenetics) ; 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)  
7.
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  
8.
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  
9.
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)  
10.
295.5 KB Commentary : Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics / Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
2020 - 10.3389/fgene.2020.00304
Frontiers in genetics, Vol. 11 (april 2020)  

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