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- Hibar, Derrek P., et al.
(författare)
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Novel genetic loci associated with hippocampal volume
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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- Johansson Falck, Marlene, et al.
(författare)
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Embodied motivations for metaphorical meanings
- 2012
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Ingår i: Cognitive Linguistics. - Berlin : Mouton de Gruyter. - 0936-5907 .- 1613-3641. ; 23:2, s. 251-272
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Tidskriftsartikel (refereegranskat)abstract
- This paper explores the relationship between people’s mental imagery for their experiences of paths and roads and the metaphorical use of path and road in discourse. We report the results of two studies, one a survey examining people’s mental imagery about their embodied experiences with paths and roads, with the second providing a corpus analysis of the ways path and road are metaphorically used in discourse. Our hypothesis is that both people’s mental imagery for path and road, and speakers’ use of these words in metaphorical contexts are strongly guided by their embodied understandings of real-world events related to travel on paths and roads. The results of these studies demonstrate how bodily experiences with artifacts partly constrains not only how specific conceptual metaphors emerge, but how different metaphorical understandings are applied in talk about abstract entities and events.
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- Johansson Falck, Marlene, et al.
(författare)
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Embodied motivations for metaphorical meanings
- 2013
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Ingår i: Cognitive linguistics. - Berlin : Mouton de Gruyter. - 9783110333886 - 9783110335255 ; , s. 81-102
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Bokkapitel (refereegranskat)abstract
- This paper explores the relationship between people's mental imagery for their experiences of paths and roads and the metaphorical use of path and road in discourse. We report the results of two studies, one a survey examining people's mental imagery about their embodied experiences with paths and roads, with the second providing a corpus analysis of the ways path and road are metaphorically used in discourse. Our hypothesis is that both people's mental imagery for path and road, and speakers' use of these words in metaphorical contexts are strongly guided by their embodied understandings of real-world events related to travel on paths and roads. The results of these studies demonstrate how bodily experiences with artifacts partly constrains not only how specific conceptual metaphors emerge, but how different metaphorical understandings are applied in talk about abstract entities and events.
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- Nicolas, Aude, et al.
(författare)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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