Institution
University of Geneva
Education•Geneva, Switzerland•
About: University of Geneva is a education organization based out in Geneva, Switzerland. It is known for research contribution in the topics: Population & Galaxy. The organization has 26887 authors who have published 65265 publications receiving 2931373 citations. The organization is also known as: Geneva University & Universite de Geneve.
Topics: Population, Galaxy, Planet, Stars, Context (language use)
Papers published on a yearly basis
Papers
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Estonian Biocentre1, University of Tartu2, Medical University of Vienna3, Sofia Medical University4, Charles University in Prague5, Wellcome Trust Sanger Institute6, National Institutes of Health7, Council on Education for Public Health8, French Alternative Energies and Atomic Energy Commission9, French Institute of Health and Medical Research10, Technische Universität München11, Ludwig Maximilian University of Munich12, University of Pécs13, University of Trieste14, Latvian Biomedical Research and Study centre15, Vilnius University16, Pomeranian Medical University17, Russian Academy of Sciences18, Hebron University19, University of Geneva20
TL;DR: This analysis revealed that the genetic structure of the European population correlates closely with geography, and allows the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
Abstract: Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a) Finland, b) the Baltic region, Poland and Western Russia, and c) Italy as its vertexes, and with d) Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda) (ranging from 1.00 to 4.21), fixation index (F(st)) (ranging from 0.000 to 0.023), and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population), a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
440 citations
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TL;DR: Evidence is accumulating that, during their delivery to the surface, different types of plasma membrane protein might be sorted from each other early in this pathway, in the endoplasmic reticulum.
Abstract: The study of glycosylphosphatidylinositol-anchored-protein sorting has led to some surprising new findings and concepts. Evidence is accumulating that, during their delivery to the surface, different types of plasma membrane protein might be sorted from each other early in this pathway, in the endoplasmic reticulum. Furthermore, membrane-lipid composition and microdomains might have a role in the process of protein sorting in both the secretory and endocytic pathways.
439 citations
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TL;DR: It is shown that the phase resetting in peripheral clocks of nocturnal mice is slow when feeding time is changed from night to day and rapid when switched back from day to night.
Abstract: The circadian timing system in mammals is composed of a master pacemaker in the suprachiasmatic nucleus (SCN) of the hypothalamus and slave clocks in most peripheral cell types. The phase of peripheral clocks can be completely uncoupled from the SCN pacemaker by restricted feeding. Thus, feeding time, while not affecting the phase of the SCN pacemaker, is a dominant Zeitgeber for peripheral circadian oscillators. Here we show that the phase resetting in peripheral clocks of nocturnal mice is slow when feeding time is changed from night to day and rapid when switched back from day to night. Unexpectedly, the inertia in daytime feeding-induced phase resetting of circadian gene expression in liver and kidney is not an intrinsic property of peripheral oscillators, but is caused by glucocorticoid signaling. Thus, glucocorticoid hormones inhibit the uncoupling of peripheral and central circadian oscillators by altered feeding time.
439 citations
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TL;DR: Common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy are suggested, including copy number variants in genes previously implicated in other neurodevelopmental disorders.
Abstract: Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal dominant and severe sporadic forms of epilepsy, but the genetic cause is unknown in the vast majority of cases. Copy number variants (CNVs) are known to play an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID), autism, and schizophrenia. Genome-wide studies of copy number variation in epilepsy have not been performed. We have applied whole-genome oligonucleotide array comparative genomic hybridization to a cohort of 517 individuals with various idiopathic, non-lesional epilepsies. We detected one or more rare genic CNVs in 8.9% of affected individuals that are not present in 2,493 controls; five individuals had two rare CNVs. We identified CNVs in genes previously implicated in other neurodevelopmental disorders, including two deletions in AUTS2 and one deletion in CNTNAP2. Therefore, our findings indicate that rare CNVs are likely to contribute to a broad range of generalized and focal epilepsies. In addition, we find that 2.9% of patients carry deletions at 15q11.2, 15q13.3, or 16p13.11, genomic hotspots previously associated with ID, autism, or schizophrenia. In summary, our findings suggest common etiological factors for seemingly diverse diseases such as ID, autism, schizophrenia, and epilepsy.
439 citations
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TL;DR: It is shown that a larger signature comprising this sequence is common to most of the known zinc‐dependent endopeptidases, and that the presence of the signature can be indicative of membership in the family.
438 citations
Authors
Showing all 27203 results
Name | H-index | Papers | Citations |
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JoAnn E. Manson | 270 | 1819 | 258509 |
Joseph L. Goldstein | 207 | 556 | 149527 |
Kari Stefansson | 206 | 794 | 174819 |
David Baltimore | 203 | 876 | 162955 |
Mark I. McCarthy | 200 | 1028 | 187898 |
Michael S. Brown | 185 | 422 | 123723 |
Yang Gao | 168 | 2047 | 146301 |
Napoleone Ferrara | 167 | 494 | 140647 |
Marc Weber | 167 | 2716 | 153502 |
Alessandro Melchiorri | 151 | 674 | 116384 |
Andrew D. Hamilton | 151 | 1334 | 105439 |
David P. Strachan | 143 | 472 | 105256 |
Andrew Beretvas | 141 | 1985 | 110059 |
Rainer Wallny | 141 | 1661 | 105387 |
Josh Moss | 139 | 1019 | 89255 |