Institution
Pompeu Fabra University
Education•Barcelona, Spain•
About: Pompeu Fabra University is a education organization based out in Barcelona, Spain. It is known for research contribution in the topics: Population & Gene. The organization has 8093 authors who have published 23570 publications receiving 858431 citations. The organization is also known as: Universitat Pompeu Fabra & UPF.
Topics: Population, Gene, European union, Genome, Context (language use)
Papers published on a yearly basis
Papers
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Momoko Horikoshi1, Hanieh Yaghootkar2, Dennis O. Mook-Kanamori3, Dennis O. Mook-Kanamori4 +171 more•Institutions (53)
TL;DR: The number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking, are extended and highlight genetic links between fetal growth and postnatal growth and metabolism.
Abstract: Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
309 citations
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TL;DR: The characterization of a human SNAIL promoter that contains the initiation of transcription and regulates the expression of this gene in tumor cells is described, indicating that Snail transcription is driven by signaling pathways known to induce epithelial to mesenchymal transition, reinforcing the role of Snail in this process.
Abstract: Expression of Snail transcriptional factor is a determinant in the acquisition of a mesenchymal phenotype by epithelial tumor cells. However, the regulation of the transcription of this gene is still unknown. We describe here the characterization of a human SNAIL promoter that contains the initiation of transcription and regulates the expression of this gene in tumor cells. This promoter was activated in cell lines in response to agents that induce Snail transcription and the mesenchymal phenotype, as addition of the phorbol ester PMA or overexpression of integrin-linked kinase (ILK) or oncogenes such as Ha-ras or v-Akt. Although other regions of the promoter were required for a complete stimulation by Akt or ILK, a minimal fragment (−78/+59) was sufficient to maintain the mesenchymal specificity. Activity of this minimal promoter and SNAIL RNA levels were dependent on ERK signaling pathway. NFκB/p65 also stimulated SNAIL transcription through a region located immediately upstream the minimal promoter, between −194 and −78. These results indicate that Snail transcription is driven by signaling pathways known to induce epithelial to mesenchymal transition, reinforcing the role of Snail in this process.
309 citations
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TL;DR: The observation that a temperature-induced change in expression from a Caenorhabditis elegans heterochromatic gene array can endure for at least 14 generations is reported, suggesting long-lasting epigenetic memory of environmental change is therefore possible in this animal.
Abstract: The environment experienced by an animal can sometimes influence gene expression for one or a few subsequent generations. Here, we report the observation that a temperature-induced change in expression from a Caenorhabditis elegans heterochromatic gene array can endure for at least 14 generations. Inheritance is primarily in cis with the locus, occurs through both oocytes and sperm, and is associated with altered trimethylation of histone H3 lysine 9 (H3K9me3) before the onset of zygotic transcription. Expression profiling reveals that temperature-induced expression from endogenous repressed repeats can also be inherited for multiple generations. Long-lasting epigenetic memory of environmental change is therefore possible in this animal.
309 citations
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University of California, Santa Cruz1, University of Florida2, Mississippi State University3, Pompeu Fabra University4, University of Colorado Denver5, University of Texas at Arlington6, University UCINF7, Austral University of Chile8, Genetic Information Research Institute9, Institute for Systems Biology10, University of Georgia11, Uppsala University12, University of Münster13, University of Sydney14, University of the Republic15, Occidental College16, University of Arizona17, Harvard University18, North Carolina State University19, Howard Hughes Medical Institute20, University of Copenhagen21, University of Tokyo22, University of Iowa23, University of Delaware24, University of California, Los Angeles25, Louisiana State University26, Catalan Institution for Research and Advanced Studies27, Texas Tech University28
TL;DR: An exceptionally slow rate of genome evolution within crocodilians at all levels is observed, consistent with a single underlying cause of a reduced rate of evolutionary change rather than intrinsic differences in base repair machinery.
Abstract: ?? To provide context for the diversification of archosaurs—the group that includes crocodilians, dinosaurs, and birds—we generated draft genomes of three crocodilians: Alligator mississippiensis (the American alligator), Crocodylus porosus (the saltwater crocodile), and Gavialis gangeticus (the Indian gharial). We observed an exceptionally slow rate of genome evolution within crocodilians at all levels, including nucleotide substitutions, indels, transposable element content and movement, gene family evolution, and chromosomal synteny. When placed within the context of related taxa including birds and turtles, this suggests that the common ancestor of all of these taxa also exhibited slow genome evolution and that the comparatively rapid evolution is derived in birds. The data also provided the opportunity to analyze heterozygosity in crocodilians, which indicates a likely reduction in population size for all three taxa through the Pleistocene. Finally, these data combined with newly published bird genomes allowed us to reconstruct the partial genome of the common ancestor of archosaurs, thereby providing a tool to investigate the genetic starting material of crocodilians, birds, and dinosaurs.
306 citations
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TL;DR: A comprehensive assessment of the scope of targeted therapeutic agents in a large pan-cancer cohort and an in silico prescription strategy based on identification of the driver alterations in each tumor and their druggability options is developed.
305 citations
Authors
Showing all 8248 results
Name | H-index | Papers | Citations |
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Andrei Shleifer | 171 | 514 | 271880 |
Paul Elliott | 153 | 773 | 103839 |
Bert Brunekreef | 124 | 806 | 81938 |
Philippe Aghion | 122 | 507 | 73438 |
Anjana Rao | 118 | 337 | 61395 |
Jordi Sunyer | 115 | 798 | 57211 |
Kenneth J. Arrow | 113 | 411 | 111221 |
Xavier Estivill | 110 | 673 | 59568 |
Roderic Guigó | 108 | 304 | 106914 |
Mark J. Nieuwenhuijsen | 107 | 647 | 49080 |
Jordi Alonso | 107 | 523 | 64058 |
Alfonso Valencia | 106 | 542 | 55192 |
Luis Serrano | 105 | 452 | 42515 |
Vadim N. Gladyshev | 102 | 490 | 34148 |
Josep M. Antó | 100 | 493 | 38663 |