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See detailCommon genetic variants influence human subcortical brain structures.
Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E. et al

in Nature (2015), 520(7546), 224-9

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and ... [more ▼]

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 x 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. [less ▲]

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See detailCommon Modules Organised by the Greek Military Academies, 2015
Paile, Sylvain ULiege

Report (2015)

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See detailA common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
Abicht, A.; Stucka, R.; Karcagi, V. et al

in Neurology (1999), 53(7), 1564-9

OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). BACKGROUND: The nicotinic ... [more ▼]

OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). BACKGROUND: The nicotinic AChR of skeletal muscle is a neurotransmitter-gated ion channel that mediates synaptic transmission at the vertebrate neuromuscular junction. Mutations in its gene may cause congenital myasthenic syndromes. A recently described mutation in exon 12 of the AChR epsilon subunit (epsilon1267delG) disrupts the cytoplasmic loop and the fourth transmembrane region (M4) of the AChR epsilon subunit. METHODS: Forty-three CMS patients from 35 nonrelated families were clinically classified as sporadic cases of CMS (group III according to European Neuromuscular Centre consensus) and were analyzed for epsilon1267delG by PCR amplification and sequence analysis. RESULTS: The authors report the complete genomic sequence and organization of the gene coding for the epsilon subunit of the human AChR (accession number AF105999). Homozygous epsilon1267delG was identified in 13 CMS patients from 11 independent families. All epsilon1267delG families were of Gypsy or southeastern European origin. Genotype analysis indicated that they derive from a common ancestor (founder) causing CMS in the southeastern European Gypsy population. Phenotype analysis revealed a uniform pattern of clinical features including bilateral ptosis and mild to moderate fatigable weakness of ocular, facial, bulbar, and limb muscles. CONCLUSIONS: The mutation epsilon1267delG might be frequent in European congenital myasthenic syndrome patients of Gypsy ethnic origin. In general, patients (epsilon1267delG) were characterized by the onset of symptoms in early infancy, the presence of ophthalmoparesis, positive response to anticholinesterase treatment, and the benign natural course of the disease. [less ▲]

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See detailCommon Prevalence Of Alanine And Glycine In Mobile Reactive Center Loops Of Serpins And Viral Fusion Peptides - Do Prions Possess A Fusion Peptide
Callebaut, I.; Tasso, A.; Brasseur, Robert ULiege et al

in Journal of Computer-Aided Molecular Design (1994), 8(2),

Serpin reactive centre loops and fusion peptides released by proteolytic cleavage are particularly mobile. Their amino acid compositions reveal a common and unusual abundance of alanine, accompanied by ... [more ▼]

Serpin reactive centre loops and fusion peptides released by proteolytic cleavage are particularly mobile. Their amino acid compositions reveal a common and unusual abundance of alanine, accompanied by high levels of glycine. These two small residues, which are not simultaneously abundant in stable helices (standard or transmembrane), probably play an important role in mobility. Threonine and valine (also relatively small amino acids) are also abundant in these two kinds of peptides. Moreover, the known 3D structures of an uncleaved serpin reactive centre and a fusion peptide are strikingly similar. Such sequences possess many small residues and are found in several signal peptides and in PrP, a protein associated with spongiform encephalopathies and resembling virus envelope proteins. These properties may be related to the infection mechanisms of these diseases. [less ▲]

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See detailA common reference population from four European Holstein populations increases reliability of genomic predictions.
Lund, M. S.; de Ross, S. P.; de Vries, A. G. et al

in Genetics, Selection, Evolution (2011), 43(1), 43

ABSTRACT: BACKGROUND: Size of the reference population and reliability of phenotypes are crucial factors influencing the reliability of genomic predictions. It is therefore useful to combine closely ... [more ▼]

ABSTRACT: BACKGROUND: Size of the reference population and reliability of phenotypes are crucial factors influencing the reliability of genomic predictions. It is therefore useful to combine closely related populations. Increased accuracies of genomic predictions depend on the number of individuals added to the reference population, the reliability of their phenotypes, and the relatedness of the populations that are combined. METHODS: This paper assesses the increase in reliability achieved when combining four Holstein reference populations of 4000 bulls each, from European breeding organizations, i.e. UNCEIA (France), VikingGenetics (Denmark, Sweden, Finland), DHV-VIT (Germany) and CRV (The Netherlands, Flanders). Each partner validated its own bulls using their national reference data and the combined data, respectively. RESULTS: Combining the data significantly increased the reliability of genomic predictions for bulls in all four populations. Reliabilities increased by 10%, compared to reliabilities obtained with national reference populations alone, when they were averaged over countries and the traits evaluated. For different traits and countries, the increase in reliability ranged from 2% to 19%. CONCLUSIONS: Genomic selection programs benefit greatly from combining data from several closely related populations into a single large reference population. [less ▲]

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See detailCommon resting brain dynamics indicate a possible mechanism underlying zolpidem response in severe brain injury
Williams, Shawniqua; Conte, Mary; Goldfine, Andrew et al

in eLife (2013)

Zolpidem produces paradoxical recovery of speech, cognitive and motor functions in select subjects with severe brain injury but underlying mechanisms remain unknown. In three diverse patients with known ... [more ▼]

Zolpidem produces paradoxical recovery of speech, cognitive and motor functions in select subjects with severe brain injury but underlying mechanisms remain unknown. In three diverse patients with known zolpidem responses we identify a distinctive pattern of EEG dynamics that suggests a mechanistic model. In the absence of zolpidem, all subjects show a strong low frequency oscillatory peak ∼6–10 Hz in the EEG power spectrum most prominent over frontocentral regions and with high coherence (∼0.7–0.8) within and between hemispheres. Zolpidem administration sharply reduces EEG power and coherence at these low frequencies. The ∼6–10 Hz activity is proposed to arise from intrinsic membrane properties of pyramidal neurons that are passively entrained across the cortex by locally-generated spontaneous activity. Activation by zolpidem is proposed to arise from a combination of initial direct drug effects on cortical, striatal, and thalamic populations and further activation of underactive brain regions induced by restoration of cognitively-mediated behaviors. [less ▲]

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See detailCommon Security and Defence Policy Module - External Evaluation Report
Paile, Sylvain ULiege

Book published by Ministry of Defence and Sports of the Federal Republic of Austria (2014)

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See detailCommon Security and Defence Policy Module 2012 - External Evaluation Report
Paile, Sylvain ULiege

in Armis et Litteris (2013), 28

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See detailCommon Security and Defence Policy Modules 2011 External Evaluation Report
Paile, Sylvain ULiege

Book published by Ministry of Defence and Sports of the Federal Republic of Austria (2012)

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See detailCommon Security and Defence Policy Modules 2012 External Evaluation Report
Paile, Sylvain ULiege

Book published by Ministry of Defence and Sports of the Federal Republic of Austria (2013)

Detailed reference viewed: 32 (2 ULiège)
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See detailCommon serial order processes in musical and verbal short-term memory: evidence from a novel serial order probe recognition paradigm
Gorin, Simon ULiege; Majerus, Steve ULiege

in Ginsborg, Jane; Lamont, Alexandra; Philips, M (Eds.) et al Proceedings of the Ninth Triennial Conference of the European Society for the Cognitive Sciences of Music (2015, August 21)

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See detailCommon stochastic trends in European stock markets
Corhay, Albert ULiege; Tourani-Rad, Alireza; Urbain, Jean-Pierre ULiege

in Economics Letters (1993), 42(4), 385-390

The objective of the paper is to investigate whether price indices of different European stock markets display a common long-run trending behaviour. Using cointegration analysis, we provide empirical ... [more ▼]

The objective of the paper is to investigate whether price indices of different European stock markets display a common long-run trending behaviour. Using cointegration analysis, we provide empirical evidence of common stochastic trends among five important European stock markets over the period 1975-1991. [less ▲]

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See detailA common system controls the induction of very different genes. The class-A beta-lactamase of Proteus vulgaris and the enterobacterial class-C beta-lactamase.
Datz, M; Joris, Bernard ULiege; Azab, E A et al

in European Journal of Biochemistry (1994), 226(1), 149-57

Among the Enterobacteriaceae, Proteus vulgaris is exceptional in the inducible production of a 29-kDa beta-lactamase (cefuroximase) with an unusually high activity towards the beta-lactamase-stable ... [more ▼]

Among the Enterobacteriaceae, Proteus vulgaris is exceptional in the inducible production of a 29-kDa beta-lactamase (cefuroximase) with an unusually high activity towards the beta-lactamase-stable oximino-cephalosporins (e.g. cefuroxime and cefotaxime). Sequencing of the corresponding gene, cumA, showed that the derived CumA beta-lactamase belonged to the molecular class A. The structural gene was under the direct control of gene cumR, which was transcribed backwards and whose initiation codon was 165 bp away from that of the beta-lactamase gene. This resembled the arrangement of structural and regulator genes ampC and ampR of the 39-kDa molecular-class-C beta-lactamase AmpC present in many enterobacteria. Moreover, cloned genes ampD and ampG for negative modulation and signal transduction of AmpC beta-lactamase induction, respectively, were also able to restore constitutively CumA overproducing and non-inducible P. vulgaris mutants to the inducible, wild-type phenotype. The results indicate that controls of the induction phenomena are equivalent for the CumA and AmpC beta-lactamase. Very different structural genes can thus be under the control of identical systems. [less ▲]

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See detailCOMMON Tool
Defays, Aurore ULiege; Jeunejean, Aurélie ULiege

Software (2014)

COMMON Tool is web application that allows to cross multimodal data from observations or experiments. Multimodal data coming from manual or automatic coding are imported in CSV format. This application ... [more ▼]

COMMON Tool is web application that allows to cross multimodal data from observations or experiments. Multimodal data coming from manual or automatic coding are imported in CSV format. This application gives the user the opportunity to observe on a time-line whenever a participant engages a particular mode of communication (such as speech, gesture, gaze, or graphics productions). The main advantage of this time-line is that it allows to dynamically display the data. Indeed, the user can set different display filters according to its criteria and desired outcomes. This software enables the user to perform quantitative analysis on the utilisation of each modality (number, total time, time average, standard deviation) for all or a single participant. Another advantage of this software is its ability to analyze in detail the multimodal articulations (detection of simultaneity or patterns). Plug-ins are also available to analyze in detail the speech content and to determine how verbal and non-verbal modalities are simultaneously mobilized to support the construction and maintenance of a shared representation of the activity (common ground). [less ▲]

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See detailCOMMON Tools
Defays, Aurore ULiege; Jeunejean, Aurélie ULiege; Ben Rajeb, Samia ULiege et al

Software (2014)

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See detailCommon variants at five new loci associated with early-onset inflammatory bowel disease.
Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne et al

in Nature Genetics (2009), 41(12), 1335-40

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide ... [more ▼]

The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD. [less ▲]

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See detailCommon variants in the NLRP3 region contribute to Crohn's disease susceptibility.
Villani, Alexandra-Chloé; Lemire, Mathieu; Fortin, Geneviève et al

in Nature Genetics (2009), 41(1), 71-6

We used a candidate gene approach to identify a set of SNPs, located in a predicted regulatory region on chromosome 1q44 downstream of NLRP3 (previously known as CIAS1 and NALP3) that are associated with ... [more ▼]

We used a candidate gene approach to identify a set of SNPs, located in a predicted regulatory region on chromosome 1q44 downstream of NLRP3 (previously known as CIAS1 and NALP3) that are associated with Crohn's disease. The associations were consistently replicated in four sample sets from individuals of European descent. In the combined analysis of all samples (710 father-mother-child trios, 239 cases and 107 controls), these SNPs were strongly associated with risk of Crohn's disease (P(combined) = 3.49 x 10(-9), odds ratio = 1.78, confidence interval = 1.47-2.16 for rs10733113), reaching a level consistent with the stringent significance thresholds imposed by whole-genome association studies. In addition, we observed significant associations between SNPs in the associated regions and NLRP3 expression and IL-1beta production. Mutations in NLRP3 are known to be responsible for three rare autoinflammatory disorders. These results suggest that the NLRP3 region is also implicated in the susceptibility of more common inflammatory diseases such as Crohn's disease. [less ▲]

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