| 1. |
- Ji, Xuemei, et al.
(författare)
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Protein-altering germline mutations implicate novel genes related to lung cancer development
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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| 2. |
- Johansson, Roger, et al.
(författare)
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Eye movements play an active role when visuospatial information is recalled from memory
- 2012
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Ingår i: Journal of Vision. ; 12:9
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Konferensbidrag (refereegranskat)abstract
- Abstract in Undetermined Whilst it has been established that spontaneous eye movements occur with visual imagery and that they are comparable with those from an original scene inspection (e.g., Brandt & Stark, 1997; Johansson, Holsanova, & Holmqvist, 2006), the exact purpose of these eye movements has been a hot topic of debate (cf., Ferreira et al., 2008; Richardson et al., 2009). Do they have an active and functional role in memory retrieval or are they merely an epiphenomenon? In a recent study we reported that when eye movements were prohibited for participants who orally described pictures from memory, their recollections became altered and impaired (Johansson, Holsanova, Dewhurst, & Holmqvist, (in press). Journal of Experimental Psychology: Human Perception and Performance). The current study was designed as a follow-up, aiming to uncover exactly how imposing different eye movements on participants affects memory retrieval processes. Eye movements were recorded from participants who recalled properties and spatial arrangements of sets of objects under four different manipulations: (1) free viewing on a blank screen; (2) gazing at a fixation cross; (3) looking at an area which was matched with the original locations of the objects to be recalled; (4) looking at an area which did not match the original locations of the objects to be recalled. By restricting eye movements in different ways during recall, we demonstrate the sensitivity of retrieval performance to specific eye movement manipulations. Results provide evidence that eye movements do have an active and supportive role when visuospatial information is recalled by highlighting the circumstances under which a visual memory is hampered. Additionally, findings suggest that the influence of "eye movements to nothing" is primarily related to the processing and retrieval of spatial information.
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