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- Bellenguez, C, et al.
(författare)
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New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
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Tidskriftsartikel (refereegranskat)abstract
- Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
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- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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- Pece, Fabrizio, et al.
(författare)
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MagTics: Flexible and thin form factor magnetic actuators for dynamic and wearable haptic feedback
- 2017
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Ingår i: UIST 2017 - Proceedings of the 30th Annual ACM Symposium on User Interface Software and Technology. - New York, NY, USA : ACM. ; , s. 143-154
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Konferensbidrag (refereegranskat)abstract
- We present MagTics, a novel flexible and wearable haptic interface based on magnetically actuated bidirectional tactile pixels (taxels). MagTics' thin form factor and flexibility allows for rich haptic feedback in mobile settings. We propose a novel actuation mechanism based on bistable electromagnetic latching that combines high frame rate and holding force with low energy consumption and a soft and flexible form factor. We overcome limitations of traditional soft actuators by placing several hard actuation cells, driven by flexible printed electronics, in a soft 3D printed case. A novel EM-shielding prevents magnet-magnet interactions and allows for high actuator densities. A prototypical implementation comprising of 4 actuated pins on a 1.7 cm pitch, with 2 mm travel, and generating 160 mN to 200 mN of latching force is used to implement a number of compelling application scenarios including adding haptic and tactile display capabilities to wearable devices, to existing input devices and to provide localized haptic feedback in virtual reality. Finally, we report results of a psychophysical study, conducted to inform future developments and to identify possible application domains.
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