Now showing items 1-18 of 18

    • An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures 

      Collord, Grace; Tarpey, Patrick; Kurbatova, Natalja; Martincorena, Inigo; Morán, Sebastián; Castro, Manuel; Nagy, Tibor; Bignell, Graham; Maura, Francesco; Young, Matthew D.; Berna, Jorge; Castro Tubío, José Manuel; McMurran, Chris E.; Young, Adam M.H.; Sanders, Mathijs; Noorani, Imran; Price, Stephen J.; Watts, Colin; Leipnitz, Elke; Kirsch, Matthias; Schackert, Gabriele; Pearson, Danita; Devadass, Abel; Ram, Zvi; Collins, V. Peter; Allinson, Kieren; Jenkinson, Michael D.; Zakaria, Rasheed; Syed, Khaja; Hanemann, C. Oliver; Dunn, Jemma; McDermott, Michael W.; Kirollos, Ramez W.; Vassiliou, George S.; Esteller, Manel; Behjati, Sam; Brazma, Alvis; Santarius, Thomas; McDermott, Ultan (Nature Publishing Group, 2018)
      Anaplastic meningioma is a rare and aggressive brain tumor characterised by intractable recurrences and dismal outcomes. Here, we present an integrated analysis of the whole genome, transcriptome and methylation profiles ...
    • Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review 

      Coo Diz, Alicia de; Quintela García, Inés; Diz Dios, Pedro; Carracedo Álvarez, Ángel María (Elsevier, 2018-04-25)
      Objective: A systematic review to evaluate the various genotyping tools and study strategies employed to define genetic susceptibility to periodontitis. Methods: The review was performed in accordance with Preferred ...
    • Cellular and Molecular Mechanisms Underlying Glioblastoma and Zebrafish Models for the Discovery of New Treatments 

      Reimunde Figueira, Pedro Marcos; Pensado López, Alba; Carreira Crende, Martín; Lombao Iglesias, Vanesa; Sánchez Piñón, Laura Elena; Torrecilla Parra, Marta; Ramírez, Cristina M.; Anfray, Clément; Torres Andón, Fernando (MDPI, 2021)
      Glioblastoma (GBM) is the most common of all brain malignant tumors; it displays a median survival of 14.6 months with current complete standard treatment. High heterogeneity, aggressive and invasive behavior, the impossibility ...
    • De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis 

      Alonso González, Aitana; Rodríguez Fontenla, María Cristina; Carracedo Álvarez, Ángel María (Frontiers Media, 2018-09-21)
      Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized ...
    • Different-Length Hydrazone Activated Polymers for Plasmid DNA Condensation and Cellular Transfection 

      Priegue Caamaño, Juan Manuel; Lostalé Seijo, Irene; Crisan, Daniel; Granja Guillán, Juan Ramón; Fernández Trillo, Francisco; Montenegro García, Javier (American Chemical Society, 2018)
      The recent advances in genetic engineering demand the development of conceptually new methods to prepare and identify efficient vectors for the intracellular delivery of different nucleotide payloads ranging from short ...
    • Etiología e importancia de la alimentación en la Enfermedad de Crohn 

      Díaz Boada, Olalla (2017)
      [ES]En esta revisión bibliográfica se intenta agrupar información interesante acerca de distintos aspectos relacionados con la Enfermedad de Crohn (EC), la cual forma parte del grupo de las Enfermedades Inflamatorias ...
    • Evaluation of the Predictive Ability, Environmental Regulation and Pharmacogenetics Utility of a BMI-Predisposing Genetic Risk Score during Childhood and Puberty 

      Anguita Ruiz, Augusto; González Gil, Esther M.; Rupérez, Azahara I.; Llorente Cantarero, Francisco Jesús; Pastor Villaescusa, Belén; Alcalá Fernández, Jesús; Moreno, Luis A.; Gil, Ángel; Gil Campos, Mercedes; Bueno Lozano, Gloria; Leis Trabazo, María Rosaura; Aguilera, Concepción M. (MDPI, 2020)
      Polygenetic risk scores (pGRSs) consisting of adult body mass index (BMI) genetic variants have been widely associated with obesity in children populations. The implication of such obesity pGRSs in the development of ...
    • Exploring the biological role of postzygotic and germinal de novo mutations in ASD 

      Alonso González, Aitana; Calaza Cabanas, Manuel; Amigo Lechuga, Jorge; González Peñas, Javier; Martínez Regueiro, Rocío; Fernández Prieto, Montserrat; Parellada, Mara; Arango, Celso; Rodríguez Fontenla, María Cristina; Carracedo Álvarez, Ángel María (Springer Nature, 2021)
      De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. ...
    • Genomic continuity of Argentinean Mennonites 

      Pardo Seco, Jacobo José; Llull, Cintia; Berardi, Gabriela; Gómez, Andrea; Martinón Torres, Federico; Toscanini, Ulises; Salas Ellacuriaga, Antonio (Nature Publishing Group, 2016-11-08)
      Mennonites are Anabaptist communities that originated in Central Europe about 500 years ago. They initially migrated to different European countries, and in the early 18th century they established their first communities ...
    • Genomics advances for boosting aquaculture breeding programs in Spain 

      Martínez Portela, Paulino (Elsevier, 2017)
      Spain is among the main seafood consumer countries in the world and an important aquaculture industry has been developed to satisfy its demands. Rearing facilities of aquatic species exist in Spain since Roman times, and ...
    • Multidisciplinary approach to the transfection of plasmid DNA by a nonviral nanocarrier based on a Gemini-Bolaamphiphilic hybrid lipid 

      Martínez Negro, María; Guerrero Martínez, Andrés; García Río, Luis; Domènech, Òscar; Aicart, Emilio; Tros de Ilarduya, Conchita; Junquera, Elena (American Chemical Society, 2018)
      A multidisciplinary strategy, including bothbiochemical and biophysical studies, was proposed here toevaluate the potential of lipid nanoaggregates consisting of amixture of a gemini−bolaamphiphilic lipid (C6C22C6) and ...
    • Optimization of statistical and bioinformatic methods for the analysis of next generation sequencing data for rare disease diagnosis 

      Roca Otero, Iria (2020)
      The main focus of this thesis, presented as a compendium of research articles, is the optimization of the analysis of Next Generation Sequencing data in order to facilitate the diagnosis of rare diseases. For this goal, ...
    • Phylogeography of a widespread species: pre-glacial vicariance, refugia, occasional blocking straits and long-distance migrations 

      Santiso, Xabier; López, Lúa; Retuerto Franco, José Carlos Rubén; Barreiro, Rodolfo (Oxford University Press, 2016-01-14)
      Phylogeographic studies give us the opportunity to reconstruct the historical migrations of species and link them with climatic and geographic variation. They are, therefore, a key tool to understanding the relationships ...
    • SiRNA silencing by chemically modified biopolymeric nanovectors 

      Villar Álvarez, Eva María; Leal, Baltazar H.; Martínez González, Raquel; Pardo Montero, Alberto; Al-Qadi, Sonia; Juárez, Josué; Váldez, Miguel A.; Cambón Freire, Adriana; Barbosa Fernández, Silvia; Taboada Antelo, Pablo (American Chemical Society, 2019)
      The ability to specifically silence genes by RNA interference has an enormous potential for treating genetic diseases. However, different drawbacks such as short interfering RNA (siRNA) degradability by serum nucleases and ...
    • Stimuli-Responsive DNA Binding by Synthetic Systems 

      Rodríguez Villar, Jéssica; Mosquera Mosquera, Jesús; Learte Aymamí, Soraya; Vázquez Sentís, Marco Eugenio; Mascareñas Cid, José Luis (American Chemical Society, 2020)
      Conspectus: DNA is the molecule responsible for the storage and transmission of the genetic information in living organisms. The expression of this information is highly regulated. In eukaryotes, it is achieved mainly at ...
    • Surface-Enhanced Raman Scattering Detection of Nucleic Acids Exhibiting Sterically Accessible Guanines Using Ruthenium-Polypyridyl Reagents 

      Martínez Calvo, Miguel; Guerrini, Luca; Rodríguez Villar, Jéssica; Álvarez Puebla, Ramón A.; Mascareñas Cid, José Luis (American Chemical Society, 2020)
      Here, we report the application of surface-enhanced Raman scattering (SERS) spectroscopy as a rapid and practical tool for assessing the formation of coordinative adducts between nucleic acid guanines and ruthenium polypyridyl ...
    • The complete mitogenome of a 500-year-old Inca child mummy 

      Gómez Carballa, Alberto; Catelli, María Laura; Pardo Seco, Jacobo José; Martinón Torres, Federico; Roewer, Lutz; Vullo, Carlos; Salas Ellacuriaga, Antonio (Nature Publishing Group, 2015)
      In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca ...
    • Thoracic aortic aneurysms and dissections: genetic analysis of Mendelian and complex cases 

      Gago Díaz, Marina (2017)
      The present doctoral thesis deals with the still partially unraveled genetic component of thoracic aortic aneurysms and dissections, a frequently asymptomatic but potentially lethal condition and major cause of sudden ...





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