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- 2017
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Ingår i: Physical Review D. - 2470-0010 .- 2470-0029. ; 96:2
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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| 6. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 8. |
- Gardner, A., et al.
(författare)
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Optimal stomatal theory predicts CO2 responses of stomatal conductance in both gymnosperm and angiosperm trees
- 2022
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Ingår i: New Phytologist. - : Wiley. - 0028-646X .- 1469-8137. ; 237:4, s. 1229-41
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Tidskriftsartikel (refereegranskat)abstract
- Optimal stomatal theory predicts that stomata operate to maximise photosynthesis (A(net)) and minimise transpirational water loss to achieve optimal intrinsic water-use efficiency (iWUE). We tested whether this theory can predict stomatal responses to elevated atmospheric CO2 (eCO(2)), and whether it can capture differences in responsiveness among woody plant functional types (PFTs). We conducted a meta-analysis of tree studies of the effect of eCO(2) on iWUE and its components A(net) and stomatal conductance (g(s)). We compared three PFTs, using the unified stomatal optimisation (USO) model to account for confounding effects of leaf-air vapour pressure difference (D). We expected smaller g(s), but greater A(net), responses to eCO(2) in gymnosperms compared with angiosperm PFTs. We found that iWUE increased in proportion to increasing eCO(2) in all PFTs, and that increases in A(net) had stronger effects than reductions in g(s). The USO model correctly captured stomatal behaviour with eCO(2) across most datasets. The chief difference among PFTs was a lower stomatal slope parameter (g(1)) for the gymnosperm, compared with angiosperm, species. Land surface models can use the USO model to describe stomatal behaviour under changing atmospheric CO2 conditions.
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- Adusei-Fosu, Kwasi, et al.
(författare)
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Evaluating the efficacy of potential fungicide-adjuvant combinations for control of myrtle rust in New Zealand
- 2021
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Ingår i: Journal of Plant Diseases and Protection. - : Springer. - 1861-3829 .- 1861-3837. ; 128, s. 1501-1515
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Tidskriftsartikel (refereegranskat)abstract
- Myrtle rust is a serious fungal disease caused by Austropuccinia psidii affecting a number of Myrtaceae species in New Zealand and elsewhere. Control with fungicides or biologicals provides a mechanism to reduce the build-up of inoculum in the short-term while other strategies are being developed or deployed for long-term management. This study evaluated the efficacy of fungicides for control of myrtle rust under controlled conditions and identified adjuvants that would promote spreading of fungicidal active ingredients across the leaf surface. The spread of fungicide on detached M. excelsa leaves was assessed by applying three different adjuvants in combination with seven fungicides. Subsequently, M. excelsa plants were treated with three fungicides/mixes, (azoxystrobin + epoxiconazole, triademinol or a natural tea-extract) at a single rate followed by inoculation with A. psidii urediniospores on day 0, 7, 14 or 21 days after spraying. The response to infection in M. excelsa plants based on different inoculation timings at days 0, 7 and 21 significantly differed among fungicide treatments. The fungicide azoxystrobin + epoxiconazole was the most effective with infections significantly lower on the adaxial leaf surface than abaxial, despite good surface coverage of fungicide being achieved on both leaf surfaces. There were significant differences among fungicides based on the proportion of infected leaves on M. excelsa plants. Day 21 post-spray inoculation indicated a significant interaction between inoculation time and fungicide on leaf disease ratings. However, this was not the case at either 28 or 35 days post-inoculation. This research contributes to fungicide options for myrtle rust control in New Zealand.
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| 10. |
- Pugh, Andrew R., et al.
(författare)
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Temperature Effects on the Survival and Development of Two Pest Bark Beetles Hylurgus ligniperda F. (Coleoptera: Curculionidae) and Hylastes ater Paykull (Coleoptera: Curculionidae)
- 2023
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Ingår i: Environmental Entomology. - : Oxford University Press. - 0046-225X .- 1938-2936. ; 52:1, s. 56-66
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Tidskriftsartikel (refereegranskat)abstract
- Hylurgus ligniperda (F.) and Hylastes ater (Paykull) are secondary bark beetles that have successfully spread beyond their native range, particularly into Pinus spp. plantations in the Southern Hemisphere. They feed on the phloem and cambial regions of highly stressed and recently dead Pinus spp. Here H. ligniperda and H. ater egg, larval, and pupal survival and development rates were modeled. Survival was variably influenced by temperatures depending on the life stage, but general trends were for H. ligniperda to tolerate warmer temperatures in comparison to H. ater. Nonlinear models showed 26, 29, and 34 degrees C are the optimal temperature (maximum development rates) for the development of eggs, larvae, and pupae of H. ligniperda. In contrast, optimal temperature predictions were lower for H. ater, with estimates of 26, 22, and 23 degrees C for the development of eggs, larvae, and pupae, respectively. H. ligniperda pre-imaginal stages were more tolerant to high temperatures, and H. ater pre-imaginal stages were more tolerant to low temperatures. Understanding the thermal requirements and limits for development for these two pests can assist in modeling emergence times, their current and potential species distribution and have potential phytosanitary applications.
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