Visualitza per autor "Bertranpetit, Jaume, 1952-"

Ordena per: Ordre: Resultats:

  • Pybus Oliveras, Marc, 1985-; Dall'Olio, Giovanni Marco, 1983-; Luisi, Pierre, 1985-; Uzkudun, Manu; Carreño Torres, Angel; Pavlidis, Pavlos; Laayouni, Hafid, 1968-; Bertranpetit, Jaume, 1952-; Engelken, Johannes (Oxford University Press, 2014)
    Searching for Darwinian selection in natural populations has been the focus of a multitude of studies over the last decades. Here we present the 1000 Genomes Selection Browser 1.0 (http://hsb.upf.edu) as a resource for ...
  • Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Calafell i Majó, Francesc; Comas, David, 1969-; Bertranpetit, Jaume, 1952- (Nature Publishing Group, 2011)
    Studies of large sets of SNP data have proven to be a powerful tool in the analysis of the genetic structure of human populations. In this work, we analyze genotyping data for 2,841 SNPs in 12 Sub-Saharan African populations, ...
  • Invergo, Brandon M., 1982- (Universitat Pompeu Fabra, 2013-11-22)
    Phototransduction is the biochemical process by which a light stimulusis converted to a neuronal signal. The process functions throughcomplex interactions between many proteins, which work in concert totightly control the ...
  • Invergo, Brandon M., 1982-; Montanucci, Ludovica, 1978-; Laayouni, Hafid, 1968-; Bertranpetit, Jaume, 1952- (BioMed Central, 2013)
    Visual perception is initiated in the photoreceptor cells of the retina via the phototransduction system./nThis system has shown marked evolution during mammalian divergence in such complex attributes as activation time ...
  • Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Netea, Mihai G; Casals López, Ferran; Bertranpetit, Jaume, 1952- (Public Library of Science (PLoS), 2011)
    A large proportion of the death toll associated with malaria is a consequence of malaria infection during pregnancy, causing up to 200,000 infant deaths annually. We previously published the first extensive genetic association ...
  • Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Mandomando, Inacio; Alonso, Pedro L.; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Oxford University Press, 2009)
    Malaria in pregnancy forms a substantial part of the worldwide burden of malaria, with an estimated annual death toll of up to 200,000 infants, as well as increased maternal morbidity and mortality. Studies of genetic ...
  • Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Manfred, Kayser; Mitchell, R. John; The Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Haber, Marc, 1980-; Martínez Cruz, Begoña; Melé Messeguer, Marta, 1982- (Nature Publishing Group, 2017)
    Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 ...
  • Mateu Morante, Eva (Universitat Pompeu Fabra, 2001-07-06)
    Aquest treball és una contribució als estudis de diversitat del genoma humà i pretén estudiar la variació genètica existent a nivell mundial en dos gens, causants de malaltia, el gen CFTR i el gen GBA, en cromosomes ...
  • Dall'Olio, Giovanni Marco, 1983- (Universitat Pompeu Fabra, 2013-10-28)
    In this thesis we developed two approaches to study positive selection and geneticadaptation in the human genome. Both approaches are based on applications ofnetwork theory.In the first approach, we studied how the signals ...
  • Puente, Xosé S.; Velasco, Gloria; Gutiérrez Fernández, Ana; Bertranpetit, Jaume, 1952-; King, Mary Claire; López Otín, Carlos (BioMed Central, 2006)
    Background: Cancer is a major medical problem in modern societies. However, the incidence of this disease in non-human primates is very low. To study whether genetic differences between human and chimpanzee could contribute ...
  • Invergo, Brandon M., 1982-; Dell'Orco, Daniele; Montanucci, Ludovica, 1978-; Koch, Karl-Wilhelm; Bertranpetit, Jaume, 1952- (Royal Society of Chemistry, 2014)
    Vertebrate visual phototransduction is perhaps the most well-studied G-protein signaling pathway. A wealth of available biochemical and electrophysiological data has resulted in a rich history of mathematical modeling of ...
  • Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Pybus Oliveras, Marc, 1985- (Universitat Pompeu Fabra, 2015-09-28)
    Detecting positive selection in genomic regions is a recurrent topic in human population genetics studies. Over the years, many positive selection tests have been implemented to highlight specific genomic patterns left by ...
  • Dall'Olio, Giovanni Marco, 1983-; Laayouni, Hafid, 1968-; Luisi, Pierre, 1985-; Sikora, Martin, 1976-; Montanucci, Ludovica, 1978-; Bertranpetit, Jaume, 1952- (BioMed Central, 2012)
    Asparagine N-Glycosylation is one of the most important forms of protein post-translational modification in eukaryotes. This metabolic pathway can be subdivided into two parts: an upstream sub-pathway required for achieving ...
  • Bosch Fusté, Elena (Universitat Pompeu Fabra, 2000-02-18)
    S'ha estudiat la variabilitat genètica de les poblacions del nord d'Àfrica a partir de l'anàlisi de diverses regions genòmiques per tal d'entendre les poblacions analitzades d'una banda, i comprendre la dinàmica del genoma ...
  • Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Mayor, Alfredo; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Springer, 2008)
    Placental malaria is a special form of malaria that causes up to 200,000 maternal and infant deaths every year. Previous studies show that two receptor molecules, hyaluronic acid and chondroitin sulphate A, are mediating ...
  • Sikora, Martin, 1976- (Universitat Pompeu Fabra, 2010-06-04)
    Una de les forces selectives més fortes que han afectat a les poblacions humanes en la història més recent és el paràsit de la malària: Plasmodium falciparum, que és la causa de varis exemples d'adaptació induïda per ...
  • Invergo, Brandon M., 1982-; Montanucci, Ludovica, 1978-; Koch, Karl-Wilhelm; Bertranpetit, Jaume, 1952-; Dell'Orco, Daniele (BioMed Central, 2013)
    Phototransduction in vertebrate photoreceptor cells represents a paradigm of signaling pathways mediated by G-protein-coupled receptors (GPCRs), which share common modules linking the initiation of the cascade to the final ...
  • Clarimón Echevarría, Jordi (Universitat Pompeu Fabra, 2003-03-28)
    En la present tesi doctoral es va establir i calcular els factors genètics de risc per a la forma tardana de la malaltia d'Alzheimer (MA). Foren analitzats un total de 15 variants gèniques (polimorfismes) ubicats en alguns ...
  • Clark, Andrew; Prost, Stefan; Stanton, Jo-Ann L.; White, W. Timothy J.; Kaplan, Matthew E.; Matisoo Smith, Elizabeth; Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Haber, Marc, 1980-; Martínez Cruz, Begoña; Soria Hernanz, David F (BioMed Central, 2014)
    Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput ...