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- Palmer, Duncan S., et al.
(författare)
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Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
- 2022
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 54:5, s. 541-547
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Tidskriftsartikel (refereegranskat)abstract
- We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10−9). At the protein level, AKAP-11 interacts with GSK3B, the hypothesized target of lithium, a primary treatment for BD. Our results lend support to BD’s polygenicity, demonstrating a role for rare coding variation as a significant risk factor in BD etiology.
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| 3. |
- Berndt, Jaqueline, Prof Dr, 1963-
(författare)
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Kusazōshi as Comic Books? Reading Early Modern Graphic Narratives from a Manga Studies Perspective
- 2024
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Ingår i: Graphic Narratives from Early Modern Japan. - Leiden : Brill Academic Publishers. - 9789004504103 ; , s. 530-559
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- This chapter puts conceptualizations of kuzazōshi as “comic books” to the test by subjecting two early modern graphic narratives to a mangaesque reading, that is to say, a reading that treats them as if they were contemporary story-manga. However, this reading does not foreground character types, narrative tropes, visual motifs, or parodic intertextuality, which normally are the subject of investigation by literary scholars; preference is given to embodied reading, to the perceptual rather than cognitive effects of the forms at hand. This includes intermedial considerations, in particular regarding the argument that the storytelling of modern comics is fundamentally informed by cinema. The manga-informed readings foreground two central issues: on the one hand, the perceptual movement of the gaze which connects to page-turns as movements of the hand, and the narrative’s visual flow forward; on the other hand, the representation of characters’ feelings, which in turn may move the reader and lead to empathetic engagement. In conclusion, the contingency of the notion of “manga” comes to the fore, and the conceptualization of kusazōshi as “comic books” appears as a matter of degree, depending on the considered historical periods, genres, and works of manga, and also the aesthetic aspects that are highlighted. Rendered in still, mute, and monochrome fragmented drawings, both kusazōshi and (print-based) story-manga afford an agency to their readers, that differs from both classic live-action film and recent (vertical-scroll) webtoons. To trace this agency, it is vital to consider the perceptual, sensory, and cognitive effects of the material forms at hand, and their embodied reading.
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| 4. |
- Yang, Hai-Bin, et al.
(författare)
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A redox-economical synthesis of trifluoromethylated enamides with the Langlois reagent
- 2017
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Ingår i: Organic and biomolecular chemistry. - 1477-0520 .- 1477-0539. ; 15:8, s. 1771-1775
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Tidskriftsartikel (refereegranskat)abstract
- A redox-economical strategy for the synthesis of trifluoromethylated enamides using copper catalysis is reported. The reaction employs the inexpensive Langlois reagent (CF3SO2Na) and takes place without the need of an external oxidant. The trifluoromethylated enamide products can easily be converted into the corresponding ketone, saturated amide or oxazole.
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| 6. |
- McMurray, J. J. V., et al.
(författare)
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Angiotensin-Neprilysin Inhibition versus Enalapril in Heart Failure
- 2014
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Ingår i: New England Journal of Medicine. - 0028-4793. ; 371:11, s. 993-1004
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND We compared the angiotensin receptor-neprilysin inhibitor LCZ696 with enalapril in patients who had heart failure with a reduced ejection fraction. In previous studies, enalapril improved survival in such patients. In this double-blind trial, we randomly assigned 8442 patients with class II, III, or IV heart failure and an ejection fraction of 40% or less to receive either LCZ696 (at a dose of 200 mg twice daily) or enalapril (at a dose of 10 mg twice daily), in addition to recommended therapy. The primary outcome was a composite of death from cardiovascular causes or hospitalization for heart failure, but the trial was designed to detect a difference in the rates of death from cardiovascular causes. The trial was stopped early, according to prespecified rules, after a median follow-up of 27 months, because the boundary for an overwhelming benefit with LCZ696 had been crossed. At the time of study closure, the primary outcome had occurred in 914 patients (21.8%) in the LCZ696 group and 1117 patients (26.5%) in the enalapril group (hazard ratio in the LCZ696 group, 0.80; 95% confidence interval [CI], 0.73 to 0.87; P<0.001). A total of 711 patients (17.0%) receiving LCZ696 and 835 patients (19.8%) receiving enalapril died (hazard ratio for death from any cause, 0.84; 95% CI, 0.76 to 0.93; P<0.001); of these patients, 558 (13.3%) and 693 (16.5%), respectively, died from cardiovascular causes (hazard ratio, 0.80; 95% CI, 0.71 to 0.89; P<0.001). As compared with enalapril, LCZ696 also reduced the risk of hospitalization for heart failure by 21% (P<0.001) and decreased the symptoms and physical limitations of heart failure (P = 0.001). The LCZ696 group had higher proportions of patients with hypotension and nonserious angioedema but lower proportions with renal impairment, hyperkalemia, and cough than the enalapril group. LCZ696 was superior to enalapril in reducing the risks of death and of hospitalization for heart failure.
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