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- Mullins, N., et al.
(author)
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
- 2021
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 53, s. 817-829
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Journal article (peer-reviewed)abstract
- Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.
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| 2. |
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| 3. |
- MacDonald, K., et al.
(author)
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Minimization of Childhood Maltreatment Is Common and Consequential: Results from a Large, Multinational Sample Using the Childhood Trauma Questionnaire
- 2016
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In: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 11:1
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Journal article (peer-reviewed)abstract
- Childhood maltreatment has diverse, lifelong impact on morbidity and mortality. The Childhood Trauma Questionnaire (CTQ) is one of the most commonly used scales to assess and quantify these experiences and their impact. Curiously, despite very widespread use of the CTQ, scores on its Minimization-Denial (MD) subscale-originally designed to assess a positive response bias-are rarely reported. Hence, little is known about this measure. If response biases are either common or consequential, current practices of ignoring the MD scale deserve revision. Therewith, we designed a study to investigate 3 aspects of minimization, as defined by the CTQ's MD scale: 1) its prevalence; 2) its latent structure; and finally 3) whether minimization moderates the CTQ's discriminative validity in terms of distinguishing between psychiatric patients and community volunteers. Archival, item-level CTQ data from 24 multinational samples were combined for a total of 19,652 participants. Analyses indicated: 1) minimization is common; 2) minimization functions as a continuous construct; and 3) high MD scores attenuate the ability of the CTQ to distinguish between psychiatric patients and community volunteers. Overall, results suggest that a minimizing response bias-as detected by the MD subscale-has a small but significant moderating effect on the CTQ's discriminative validity. Results also may suggest that some prior analyses of maltreatment rates or the effects of early maltreatment that have used the CTQ may have underestimated its incidence and impact. We caution researchers and clinicians about the widespread practice of using the CTQ without the MD or collecting MD data but failing to assess and control for its effects on outcomes or dependent variables.
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| 4. |
- Martschini, M., et al.
(author)
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The ILIAMS project - An RFQ ion beam cooler for selective laser photodetachment at VERA
- 2019
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In: Nuclear Instruments & Methods in Physics Research Section B-Beam Interactions with Materials and Atoms. - : Elsevier BV. - 0168-583X. ; 456, s. 213-217
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Journal article (peer-reviewed)abstract
- Selective laser photodetachment of anions is a novel technique for isobar suppression in Accelerator Mass Spectrometry (AMS). Ion-laser interaction times on the order of ms required for near-complete isobar suppression are achieved by retarding the ions in a gas-filled radio frequency quadrupole cooler. Inside this RFQ, the cooled anion beam is overlapped collinearly with an intense cw-laser beam. Within the Ion Laser InterAction Mass Spectrometry (ILIAMS) project at the University of Vienna, a dedicated injector beamline has been coupled to the VERA-AMS facility to explore and develop this method. In this work, experimental investigations on ion beam transmission, stability and elemental selectivity of the new setup are presented. A 532 nm laser at 10 W transmitted power provides suppression factors larger than ten orders of magnitude for S- and MgO- under AMS conditions with simultaneous beam transmission for the ions of interest of up to 80%. The excellent ion identification capabilities of the subsequent AMS system also facilitate the study of destruction and formation of molecular anions inside the ion cooler. These kinetic and chemical reactions with the buffer gas provide additional elemental selectivity in certain cases, whereas others constitute a source of background.
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