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 & Context (language use). 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, Context (language use), Gene, Computer science, Politics
Papers published on a yearly basis
Papers
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Paris Descartes University1, French Institute of Health and Medical Research2, University of Nantes3, Centre national de la recherche scientifique4, Pompeu Fabra University5, Curie Institute6, Pasteur Institute7, university of lille8, University of Rouen9, Joseph Fourier University10, University of Nice Sophia Antipolis11, Boston Children's Hospital12, Necker-Enfants Malades Hospital13, University of Burgundy14, University College London15, Dalhousie University16, Geneva College17, Johns Hopkins University School of Medicine18, Queen Mary University of London19, Imperial College London20
TL;DR: A role is established for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.
Abstract: Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.
285 citations
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TL;DR: It is concluded that activation of Snail expression plays an important role in down-regulation of E-cadherin and tumorigenesis of malignant melanomas.
284 citations
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Pasteur Institute1, Tel Aviv University2, Hebrew University of Jerusalem3, St James's University Hospital4, VCU Medical Center5, Royal Children's Hospital6, University of Iowa7, Pompeu Fabra University8, University of Antwerp9, State University of Campinas10, Rabin Medical Center11, University of Melbourne12, Seconda Università degli Studi di Napoli13
TL;DR: A deletion truncating the GJB6 gene (encoding connexin-30) is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation.
Abstract: Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%–50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in ∼50% of these deaf GJB2 heterozygotes in a cohort of Spanish patients, thus becoming second only to 35delG at GJB2 as the most frequent mutation causing prelingual hearing impairment in Spain. Here, we present data from a multicenter study in nine countries that shows that the deletion is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%–20.9% after screening for the del(GJB6-D13S1830) mutation. Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness.
284 citations
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Yale University1, Dartmouth College2, Lawrence Berkeley National Laboratory3, University of California, Berkeley4, Cold Spring Harbor Laboratory5, University of Washington6, University of California, Los Angeles7, University of Connecticut Health Center8, Pompeu Fabra University9, Harvard University10, Indiana University11, Tsinghua University12, National Institutes of Health13, Wellcome Trust Sanger Institute14, University of Lausanne15, Swiss Institute of Bioinformatics16, King's College London17, Kettering University18, Carnegie Mellon University19, Vanderbilt University20, University of California, Irvine21, Howard Hughes Medical Institute22, European Bioinformatics Institute23, University of Vienna24, CAS-MPG Partner Institute for Computational Biology25, The Chinese University of Hong Kong26
TL;DR: It is found in all three organisms that the gene-expression levels, both coding and non-coding, can be quantitatively predicted from chromatin features at the promoter using a ‘universal model’ based on a single set of organism-independent parameters.
Abstract: The transcriptome is the readout of the genome. Identifying common features in it across distant species can reveal fundamental principles. To this end, the ENCODE and modENCODE consortia have generated large amounts of matched RNA-sequencing data for human, worm and fly. Uniform processing and comprehensive annotation of these data allow comparison across metazoan phyla, extending beyond earlier within-phylum transcriptome comparisons and revealing ancient, conserved features. Specifically, we discover co-expression modules shared across animals, many of which are enriched in developmental genes. Moreover, we use expression patterns to align the stages in worm and fly development and find a novel pairing between worm embryo and fly pupae, in addition to the embryo-to-embryo and larvae-to-larvae pairings. Furthermore, we find that the extent of non-canonical, non-coding transcription is similar in each organism, per base pair. Finally, we find in all three organisms that the gene-expression levels, both coding and non-coding, can be quantitatively predicted from chromatin features at the promoter using a 'universal model' based on a single set of organism-independent parameters.
284 citations
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21 Oct 2013TL;DR: This demo wants to introduce Freesound to the multimedia community and show its potential as a research resource.
Abstract: Freesound is an online collaborative sound database where people with diverse interests share recorded sound samples under Creative Commons licenses. It was started in 2005 and it is being maintained to support diverse research projects and as a service to the overall research and artistic community. In this demo we want to introduce Freesound to the multimedia community and show its potential as a research resource. We begin by describing some general aspects of Freesound, its architecture and functionalities, and then explain potential usages that this framework has for research applications.
282 citations
Authors
Showing all 8248 results
Name | H-index | Papers | Citations |
---|---|---|---|
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 |