Now showing items 1-12 of 12

    • A common copy-number variant within SIRPB1 correlates with human Out-of-Africa migration after genetic drift correction 

      Royo Sánchez-Palencia, José Luis; Valls Marsal, Joan; Acemel, Rafael D.; Gómez-Marin, Carlos; Pascual Pons, Mariona; Lupiañez, Arantxa; Gomez-Skarmeta, Jose Luis; Fibla Palazón, Joan (Public Library of Science, 2018)
      Previous reports have proposed that personality may have played a role on human Out-Of- Africa migration, pinpointing some genetic variants that were positively selected in the migrating populations. In this work, we ...
    • A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis 

      Gayán, Javier; González-Pérez, Antonio; Bermudo, Fernando; Eugenia Sáez, María; Royo Sánchez-Palencia, José Luis; Quintas, Antonio; Galan, José J.; Morón, Francisco J.; Ramirez Lorca, Reposo; Real, Luis M.; Ruiz González, Agustín (BioMed Central, 2008)
      Background: The difficulty in elucidating the genetic basis of complex diseases roots in the many factors that can affect the development of a disease. Some of these genetic effects may interact in complex ways, proving ...
    • Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorder 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; Aluja Fabregat, Antón; López, Ricard; Heine-Suñer, Damià; Fibla Palazón, Joan (Hindawi Publishing Corporation, 2014)
      Autism spectrum disorder (ASD) is a highly heritable disease (∼0.9) with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication ...
    • De novo assembly of the Brown trout (Salmo trutta m. fario) brain and muscle transcriptome: transcript annotation, tissue differential expression profile and SNP discovery 

      Fibla Palazón, Joan; Oromí Farrús, Neus; Pascual Pons, Mariona; Royo Sánchez-Palencia, José Luis; Palau, Antoni; Fibla, M. (BMC, 2020-11-02)
      Objectives: The Brown trout is a salmonid species with a high commercial value in Europe. Life history and spawning behaviour include resident (Salmo trutta m. fario) and migratory (Salmo trutta m. trutta) ecotypes. The ...
    • Dissecting the Transcriptional Regulatory Properties of Human Chromosome 16 Highly Conserved Non-Coding Regions 

      Royo Sánchez-Palencia, José Luis; Hidalgo, Carmen; Roncero, Yolanda; Seda, María Ángeles; Akalin, Altuna; Lenhard, Boris; Casares, Fernando; Gómez-Skarmeta, José Luis (Public Library of Science, 2011)
      Non-coding DNA conservation across species has been often used as a predictor for transcriptional enhancer activity. However, only a few systematic analyses of the function of these highly conserved non-coding regions ...
    • Genetic structure of the Spanish population 

      Gayán, Javier; Galan, José J.; González-Pérez, Antonio; Sáez, María Eugenia; Martínez-Larrad, María Teresa; Zabena, Carina; Rivero, M. Carmen; Salinas, Ana; Ramírez-Lorca, Reposo; Morón, Francisco J.; Royo Sánchez-Palencia, José Luis; Moreno-Rey, Concha; Velasco, Juan; Carrasco, José M.; Molero, Eva; Ochoa, Carolina; Ochoa, María Dolores; Gutiérrez, Marta; Reina, Mercedes; Pascual, Rocío; Romo-Astorga, Alejandro; Susillo-González, Juan Luis; Vázquez, Enrique; Real, Luis M.; Ruiz, Agustín; Serrano-Ríos, Manuel (BioMed Central, 2010-05-25)
      Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. ...
    • Genotyping of common SIRPB1 copy number variant using Paralogue Ratio Test coupled to MALDI-MS quantification 

      Royo Sánchez-Palencia, José Luis; Pascual Pons, Mariona; Lupiañez, Arantxa; Sanchez Lopez, Isabel; Fibla Palazón, Joan (Elsevier, 2015)
      Copy number variant (CNV) regions have been proven to have a significant impact on gene expression. Some of them have been also found to be associated to different human diseases. CNV genotyping is often prone to error and ...
    • Identification and Analysis of Conserved cis-Regulatory Regions of the MEIS1 Gene 

      Royo Sánchez-Palencia, José Luis; Bessa, José; Hidalgo, Carmen; Fernández-Miñán, Ana; Tena Aguilar, Juan Jesús; Roncero, Yolanda; Gómez-Skarmeta, José Luis; Casares, Fernando (Public Library of Science, 2012)
      Meis1, a conserved transcription factor of the TALE-homeodomain class, is expressed in a wide variety of tissues during development. Its complex expression pattern is likely to be controlled by an equally complex regulatory ...
    • Methylation alterations are not a major cause of PTTG1 missregulation 

      Hidalgo, Manuel; Galan, Jose J.; Sáez, Carmen; Ferrero, Eduardo; Castilla, Carolina; Ramirez Lorca, Reposo; Pelaez, Pablo; Ruiz, Agustín; Japón, Miguel A.; Royo Sánchez-Palencia, José Luis (BioMed Central, 2008)
      Background: On its physiological cellular context, PTTG1 controls sister chromatid segregation during mitosis. Within its crosstalk to the cellular arrest machinery, relies a checkpoint of integrity for which gained the ...
    • SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; García Rodríguez, Luis Francisco; Aluja Fabregat, Antón; Gómez-Skarmeta, José Luis; Fibla Palazón, Joan (John Wiley & Sons, 2014-10-26)
      Impulsive-disinhibited personality (IDP) is a behavioral trait mainly characterized by seeking immediate gratification at the expense of more enduring or long-term gains. This trait has a major role in the development of ...
    • Toll Like Receptor 2 promoter -196 to -174 deletion affects CD4 levels along HIV infection progression 

      Laplana Lafaja, Marina; Bravo, M. J.; Fernández-Fuertes, M.; Ruiz-García, C.; Alarcón-Martin, E.; Colmenero, J. D.; Caruz, Antonio; Fibla Palazón, Joan; Real, Luis M.; Royo Sánchez-Palencia, José Luis (Infectious Diseases Society of AmericaOxford University Press, 2020-06-09)
      TLR2 plays a key role in innate immune response recognizing molecular patterns expressed by pathogens. rs111200466 is a TLR2 promoter Insertion/Deletion polymorphism with contradictory data about its role in HIV-1 infection. ...
    • Vitamin D Receptor polymorphisms and risk of enveloped virus infection: a meta-analysis 

      Laplana Lafaja, Marina; Royo Sánchez-Palencia, José Luis; Fibla Palazón, Joan (Elsevier, 2018-08-01)
      Introduction Vitamin-D plays a role regulating the immune response against to viral infection. In this sense, vitamin-D deficiency may confer increased susceptibility to enveloped virus infection such as HIV, Hepatitis, ...