| 51. |
- Joshi, Peter K, et al.
(författare)
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Directional dominance on stature and cognition in diverse human populations
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
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Tidskriftsartikel (refereegranskat)abstract
- Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
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| 52. |
- Justice, Anne E., et al.
(författare)
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
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Tidskriftsartikel (refereegranskat)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
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| 53. |
- Keenan, Mickey, et al.
(författare)
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Professional Development of Behavior Analysts in Europe : A Snapshot for 21 Countries
- 2023
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Ingår i: Behavior Analysis in Practice. - : Springer Science and Business Media LLC. - 1998-1929 .- 2196-8934. ; 16:3, s. 709-729
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Forskningsöversikt (refereegranskat)abstract
- Behavior analysts are not recognized or regulated as a distinct profession in Europe. For the most part, European behavior analysts adhered to the standards set by the U.S.-based Behavior Analyst Certification Board (BACB). However, the BACB certification has not been recognized officially in any European jurisdiction. The recent decision by the BACB to discontinue eligibility of non-U.S. residents to apply for the BCBA exam by the end of 2022 has brought the issue of professional regulation outside of the United States into sharp focus. This article offers a snapshot in time of professional recognition of behavior analysts in 21 European countries. It stems from the Erasmus+ funded EuroBA project and its Professional Advisory Group (PAG). The EuroBA project aims to develop common standards and competences for behavior analysts to facilitate national regulation and mutual recognition across Europe.
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| 54. |
- Lin, Yan-Shih, et al.
(författare)
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Optimal stomatal behaviour around the world
- 2015
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Ingår i: Nature Climate Change. - : Springer Science and Business Media LLC. - 1758-678X .- 1758-6798. ; 5, s. 459-464
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Tidskriftsartikel (refereegranskat)abstract
- Stomatal conductance (gs) is a key land-surface attribute as it links transpiration, the dominant component of global land evapotranspiration, and photosynthesis, the driving force of the global carbon cycle. Despite the pivotal role of gs in predictions of global water and carbon cycle changes, a globalscale database and an associated globally applicable model of gs that allow predictions of stomatal behaviour are lacking. Here,we present a database of globally distributed gs obtained in the field for a wide range of plant functional types (PFTs) and biomes. We find that stomatal behaviour differs among PFTs according to their marginal carbon cost of water use, as predicted by the theory underpinning the optimal stomatal model1 and the leaf and wood economics spectrum2,3.We also demonstrate a global relationship with climate. These findings provide a robust theoretical framework for understanding and predicting the behaviour of gs across biomes and across PFTs that can be applied to regional, continental and global-scale modelling of ecosystem productivity, energy balance and ecohydrological processes in a future changing climate.
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| 55. |
- Lin, Yan-Shih, et al.
(författare)
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Optimal stomatal behaviour around the world
- 2015
-
Ingår i: Nature Climate Change. - 1758-6798 .- 1758-678X. ; 5:5, s. 459-464
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Tidskriftsartikel (refereegranskat)abstract
- Stomatal conductance (g(s)) is a key land-surface attribute as it links transpiration, the dominant component of global land evapotranspiration, and photosynthesis, the driving force of the global carbon cycle. Despite the pivotal role of g(s) in predictions of global water and carbon cycle changes, a global-scale database and an associated globally applicable model of g(s) that allow predictions of stomatal behaviour are lacking. Here, we present a database of globally distributed g(s) obtained in the field for a wide range of plant functional types (PFTs) and biomes. We find that stomatal behaviour differs among PFTs according to their marginal carbon cost of water use, as predicted by the theory underpinning the optimal stomatal model(1) and the leaf and wood economics spectrum(2,3). We also demonstrate a global relationship with climate. These findin g(s) provide a robust theoretical framework for understanding and predicting the behaviour of g(s) across biomes and across PFTs that can be applied to regional, continental and global-scale modelling of ecosystem productivity, energy balance and ecohydrological processes in a future changing climate.
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| 56. |
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| 57. |
- Maier, Jürgen, et al.
(författare)
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This time it's different? : Effects of the Eurovision Debate on young citizens and its consequence for EU democracy - evidence from a quasi-experiment in 24 countries
- 2018
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Ingår i: Journal of European Public Policy. - : Informa UK Limited. - 1350-1763 .- 1466-4429. ; 25:4, s. 606-629
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Tidskriftsartikel (refereegranskat)abstract
- For the very first time in EU history, the 2014 EP elections provided citizens with the opportunity to influence the nomination of the Commission President by casting a vote for the main Europarties’ ‘lead candidates’. By subjecting the position of the Commission President to an open political contest, many experts have formulated the expectation that heightened political competition would strengthen the weak electoral connection between EU citizens and EU legislators, which some consider a root cause for the EU’s lack of public support. In particular, this contest was on display in the so-called ‘Eurovision Debate’, a televised debate between the main contenders for the Commission President broadcasted live across Europe. Drawing on a quasi-experimental study conducted in 24 EU countries, we find that debate exposure led to increased cognitive and political involvement and EU support among young citizens. Unfortunately, the debate has only reached a very small audience.
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| 58. |
- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 59. |
- Monti, Paolo, et al.
(författare)
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Green mobile backhaul in heterogeneous wireless deployments
- 2013
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Ingår i: Asia Communications and Photonics Conference, ACP 2013. - Washington, D.C. : Optical Society of America.
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Konferensbidrag (refereegranskat)abstract
- This tutorial first introduces and describes different backhaul technological and architectural options (i.e., fiber-, microwave-, and copper-based), then it discusses their impact on the energy consumption of current and future heterogeneous mobile wireless access deployments.
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| 60. |
- Natalino, Carlos, Dr. 1987-, et al.
(författare)
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Dimensioning Optical Clouds with Shared-Path Shared-Computing (SPSC) Protection
- 2015
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Ingår i: High Performance Switching and Routing (HPSR), 2015 IEEE 16th International Conference on. - : IEEE conference proceedings.
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Konferensbidrag (refereegranskat)abstract
- Service relocation represents a promising strategy to provide flexible and resource efficient resiliency from link failures in the optical cloud environment. However, when a failure affects a node hosting a datacenter (DC), service relocation from the affected DC is not possible. One alternative to protect against DC failures relies on using design strategies that duplicate the IT (i.e., storage and processing) resources in a backup DC at the expense of increasing resource overbuild (i.e., cost) of the network. This work proposes a dimensioning strategy based on the shared-path shared-computing (SPSC) concept able to protect against any single link, server, or DC failure scenario with minimal resource overbuild for the network and IT infrastructures. SPSC is based on the intuition that only storage units need complete replication in backup DC, while processing units can be instantiated only after the occurrence of a failure, leaving the design strategy some leeway to minimize their number. As result, the proposed SPSC design shows a considerable reduction in the amount of backup resources when compared to the dedicated protection strategies.
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