25 research outputs found

    Predictors of Outcome in Aneurysmal Subarachnoid Hemorrhage Patients:Observations From a Multicenter Data Set

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    A table containing information on the qRT-PCR performed with seven novel miRNAs and two known miRNAs. Per miRNA, this information includes mean CT, range of CT, cDNA dilution, the number of samples (of 12) with CT < 40, the average read depth, and primer used. (XLSX 8 kb

    Brain Sample Characteristics.

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    *<p> <i>significantly different between cases and controls (p = 0.02).</i></p

    Evaluation of Parkinson Disease Risk Variants as Expression-QTLs

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    <div><p>The recent Parkinson Disease GWAS Consortium meta-analysis and replication study reports association at several previously confirmed risk loci <em>SNCA</em>, <em>MAPT</em>, <em>GAK/DGKQ</em>, and <em>HLA</em> and identified a novel risk locus at <em>RIT2</em>. To further explore functional consequences of these associations, we investigated modification of gene expression in prefrontal cortex brain samples of pathologically confirmed PD cases (N = 26) and controls (N = 24) by 67 associated SNPs in these 5 loci. Association between the eSNPs and expression was evaluated using a 2-degrees of freedom test of both association and difference in association between cases and controls, adjusted for relevant covariates. SNPs at each of the 5 loci were tested for <em>cis</em>-acting effects on all probes within 250 kb of each locus. <em>Trans</em>-effects of the SNPs on the 39,122 probes passing all QC on the microarray were also examined. From the analysis of <em>cis</em>-acting SNP effects, several SNPs in the <em>MAPT</em> region show significant association to multiple nearby probes, including two strongly correlated probes targeting the gene <em>LOC644246</em> and the duplicated genes <em>LRRC37A</em> and <em>LRRC37A2</em>, and a third uncorrelated probe targeting the gene <em>DCAKD</em>. Significant <em>cis</em>-associations were also observed between SNPs and two probes targeting genes in the HLA region on chromosome 6. Expanding the association study to examine <em>trans</em> effects revealed an additional 23 SNP-probe associations reaching statistical significance (p<2.8×10<sup>−8</sup>) including SNPs from the <em>SNCA, MAPT</em> and <em>RIT2</em> regions. These findings provide additional context for the interpretation of PD associated SNPs identified in recent GWAS as well as potential insight into the mechanisms underlying the observed SNP associations.</p> </div

    <i>Cis</i>-Acting SNP effects on gene expression for probes within 250 kb of the PD associated risk loci.

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    <p><i>Cis</i>-Acting SNP effects on gene expression for probes within 250 kb of the PD associated risk loci.</p

    <i>MAPT</i> region probes and SNPs involved in significant <i>cis</i> eSNP relationships.

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    <p>Three probes in the <i>MAPT</i> region on chromosme 17 showing significant association with PD risk SNPs are displayed. Significant SNP associations with A_24_P110521 located in the duplicated genes <i>LRRC37A</i> and <i>LRRC37A2</i> are shown in blue, while SNPs associated with A_24_P221327 located in <i>LOC644246</i> are shown in green and SNPs associated with A_24_P58331 (in <i>DCAKD</i>) are shown in red.</p

    HLA region probes and SNPs involved in significant <i>cis</i> eSNP relationships.

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    <p>Two probes in the HLA region on chromosme 6 showing significant association with PD risk SNPs are shown on the alternative sequence haplotype chr6_ssto_hap7. Six PD risk SNPs (shown in green) showed significant association to A_24_P326084 located in <i>HLA-DQA1</i>, while four SNPs (shown in red) had significant association to A_24P852756, located in <i>HLA-DQA2</i>.</p

    Obchod s uhlíkem jako možnost financování soukromých rezervací - případová studie z Reserva Silvestre Greenfields v Nikaragui

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    The objective of this work was to measure the amount of carbon fixed in the tree biomass in the forest of Reserva Silvestre Greenfields, on the basis of inventarization of the forest and suggest a participation of the area in various projects engaged in the support of carbon sequestration in the forest ecosystems. The forest inventarization was conducted and the following research determined the average wood density of the tree species occuring on territory, total biomass and the amount of carbon in the wood mass of the woodland. Based on the data were then suggested the most suitable organizations supporting carbon management in the forest ecosystems

    The 4p16.3 Parkinson Disease Risk Locus Is Associated with <i>GAK</i> Expression and Genes Involved with the Synaptic Vesicle Membrane

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    <div><p>Genome-wide association studies (GWAS) have identified the <i>GAK</i>/<i>DGKQ</i>/<i>IDUA</i> region on 4p16.3 among the top three risk loci for Parkinson’s disease (PD), but the specific gene and risk mechanism are unclear. Here, we report transcripts containing the 3’ clathrin-binding domain of <i>GAK</i> identified by RNA deep-sequencing in post-mortem human brain tissue as having increased expression in PD. Furthermore, carriers of 4p16.3 PD GWAS risk SNPs show decreased expression of one of these transcripts, <i>GAK25</i> (Gencode Transcript 009), which correlates with the expression of genes functioning in the synaptic vesicle membrane. Together, these findings provide strong evidence for <i>GAK</i> clathrin-binding- and J-domain transcripts’ influence on PD pathogenicity, and for a role for <i>GAK</i> in regulating synaptic function in PD.</p></div

    Additional file 1: of Novel microRNA discovery using small RNA sequencing in post-mortem human brain

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    Provides information on each of the 93 samples used in this study. This information includes ID, type (Control/HD/PD), PMI (Post-mortem-interval), age at death, sex, batch, brain bank, and cause of death. (XLSX 13 kb
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