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Sökning: WFRF:(Gauthier Stephanie)

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1.
  • Richards, Stephen, et al. (författare)
  • Genome Sequence of the Pea Aphid Acyrthosiphon pisum
  • 2010
  • Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 8:2, s. e1000313-
  • Tidskriftsartikel (refereegranskat)abstract
    • Aphids are important agricultural pests and also biological models for studies of insect-plant interactions, symbiosis, virus vectoring, and the developmental causes of extreme phenotypic plasticity. Here we present the 464 Mb draft genome assembly of the pea aphid Acyrthosiphon pisum. This first published whole genome sequence of a basal hemimetabolous insect provides an outgroup to the multiple published genomes of holometabolous insects. Pea aphids are host-plant specialists, they can reproduce both sexually and asexually, and they have coevolved with an obligate bacterial symbiont. Here we highlight findings from whole genome analysis that may be related to these unusual biological features. These findings include discovery of extensive gene duplication in more than 2000 gene families as well as loss of evolutionarily conserved genes. Gene family expansions relative to other published genomes include genes involved in chromatin modification, miRNA synthesis, and sugar transport. Gene losses include genes central to the IMD immune pathway, selenoprotein utilization, purine salvage, and the entire urea cycle. The pea aphid genome reveals that only a limited number of genes have been acquired from bacteria; thus the reduced gene count of Buchnera does not reflect gene transfer to the host genome. The inventory of metabolic genes in the pea aphid genome suggests that there is extensive metabolite exchange between the aphid and Buchnera, including sharing of amino acid biosynthesis between the aphid and Buchnera. The pea aphid genome provides a foundation for post-genomic studies of fundamental biological questions and applied agricultural problems.
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2.
  • Bäckström, Peter, 1985- (författare)
  • Essays on military labour supply in the era of voluntary recruitment
  • 2020
  • Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • This thesis consists of an introductory part and two self-contained chapters related to the supply of volunteers to the Swedish Armed Forces.Chapter [I] represents the first effort to explore the relationship between civilian labour market conditions and the supply of labour to the military in the all-volunteer environment that Sweden entered after the abolishment of the peacetime draft in 2010. The effect of civilian unemployment on the rate of applications from individuals aged 18 to 25 to initiate basic military training is investigated using panel data on Swedish counties for the years 2011 through 2015. A linear fixed-effects model is estimated to investigate the relationship, while controlling for a range of socio-demographic covariates and unobserved heterogeneity on the regional level, as well as aggregate trends on the national level. The results indicate a positive and statistically significant relationship between the unemployment rate and the application rate. The results are robust to non-linear form specifications, as well as allowing the civilian unemployment rate to be endogenous. As such, the results suggest that the civilian labour market environment in Sweden can give rise to non-trivial fluctuations in the supply of applications to initiate basic military training within the Swedish Armed Forces.Chapter [II] studies how local labour market conditions influence the quality composition of those who volunteer for military service in Sweden. A fixed-effects regression model is estimated on a panel data set containing IQ scores for those who applied for military basic training across Swedish municipalities during the period 2010 to 2016. The main finding is that low civilian employment rates at the local level tend to increase the mean IQ score of those who volunteer for military service, whereas the opposite is true if employment rates in the civilian labour market move in a more favourable direction. As such, the results suggest that the negative impact of a strong civilian economy on recruitment volumes is reinforced by a deterioration in recruit quality.
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3.
  • Chinazzo, Giorgia, et al. (författare)
  • Quality criteria for multi-domain studies in the indoor environment: Critical review towards research guidelines and recommendations
  • 2022
  • Ingår i: Building and Environment. - : Elsevier BV. - 0360-1323.
  • Forskningsöversikt (refereegranskat)abstract
    • The perception, physiology, behavior, and performance of building occupants are influenced by multi-domain exposures: the simultaneous presence of multiple environmental stimuli, i.e., visual, thermal, acoustic, and air quality. Despite being extensive, the literature on multi-domain exposures presents heterogeneous methodological approaches and inconsistent study reporting, which hinder direct comparison between studies and meta-analyses. Therefore, in addition to carrying out more multi-domain studies, such investigations need to be designed, conducted, and documented in a systematic and transparent way. With the goal to facilitate and support future multi-domain studies and their meta-analyses, this work provides (1) a range of criteria for multi-domain study design and reporting (i.e., defined as quality criteria), and (2) a critical review of the multi-domain literature based on the described criteria, which can serve as guidelines and recommendations for future studies on the topic. The identified quality criteria encompass study set-up, study deployment and analysis, and study outcome, stressing the importance of adopting a consistent terminology and result reporting style. The developed critical review highlights several shortcomings in the design, deployment, and documentation of multi-domain studies, emphasizing the need for quality improvements of future multi-domain research. The ultimate goal of this work is to consolidate our knowledge on multi-domain exposures for its integration into regulatory resources and guidelines, which are currently dominated by single-domain knowledge.
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4.
  • Gaudet, Mia M., et al. (författare)
  • Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
  • 2010
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 6:10
  • Tidskriftsartikel (refereegranskat)abstract
    • The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (, 40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (lambda) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values, 10 25 and 39 SNPs had p-values<10(-4). These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66-0.86, p = 3: 8 x 10(-5)) and for rs311499 was 0.72 (95% CI 0.61-0.85, p = 6: 6 x 10(-5)). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, p = 1: 2 x 10(-8)). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.
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5.
  • Gauthier, Stephanie, et al. (författare)
  • Are heavyweight buildings more comfortable? The potential of thermal mass in increasing thermal comfort
  • 2017
  • Ingår i: Proceedings of 33rd PLEA International Conference: Design to Thrive, PLEA 2017. - 9780992895754 ; 1, s. 1084-1091
  • Konferensbidrag (refereegranskat)abstract
    • In temperate climates, one passive design solution is to increase the heat capacity of building fabric. This design principle aims to reduce heating demand in winter and over-heating in summer; it is also coupled with more stable indoor air and radiant temperature. This may suggest that by exposing thermal mass, occupants may feel more comfortable. Although previous research based on simulations have studied this relationship, there is a lack of empirical evidence. This paper reviews the results an EU-funded research project, smart controls and thermal comfort (SCATs) to ascertain the impact of building fabric on occupants’ perceived comfort. Between 1997 and 2000, twenty-six office buildings from five different countries (France, Greece, Portugal, Sweden and UK) were surveyed using a transverse questionnaire, a longitudinal questionnaire and environmental monitoring. This paper analyses the transverse questionnaires responses (N=451), in particular answers to questions on thermal perception, thermal preference and overall comfort. Results show a statistically significant relationship between building fabric heat capacity and subjective comfort (thermal perception χ2(1)=3.78, p=0.05 and overall comfort χ2(1)=4.37, p
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7.
  • Gauthier, Stephanie, et al. (författare)
  • Moving beyond averages: variations in reported thermal comfort
  • 2018
  • Ingår i: Proceedings of 10th Windsor Conference: Rethinking Comfort. - 9780992895785 ; , s. 961-971
  • Konferensbidrag (refereegranskat)abstract
    • Thermal comfort research characterises group thermal perception using averages. This approach overlooks the value of analysing variation as a dependent variable characterising groups’ state of comfort. In this paper, we reviewed the results of 219 surveys carried out in five schools in the UK and in Sweden between 2011 and 2016. Results show that pupils’ thermal sensation and preference votes varied more at moderate indoor operative temperature. This result suggests that pupils may have a greater range of adaptive opportunities, including clothing, in moderate environments. Substantively, reviewing the spread of the thermal comfort is critical to unpick behavioural, psychosocial and physiological mechanisms. Furthermore, results are significantly different while analysing the central tendency or spread of comfort votes. For example, there is no difference in comfort votes’ central tendency between surveys carried out during the heating seasons and the non-heating seasons but there is a significant difference in the spread, indicating the need for multilevel analysis. Methodologically, reviewing the spread of thermal comfort is also critical to establish the data analysis method. With recent advances in surveys’ tools allowing larger datasets to be gathered at individual and group levels, it is essential to review the range of analysis methods.
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8.
  • Pfeiler, Georg, et al. (författare)
  • Impact of BMI in Patients With Early Hormone Receptor-Positive Breast Cancer Receiving Endocrine Therapy With or Without Palbociclib in the PALLAS Trial
  • 2023
  • Ingår i: JOURNAL OF CLINICAL ONCOLOGY. - 0732-183X .- 1527-7755. ; 41:33
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSEBMI affects breast cancer risk and prognosis. In contrast to cytotoxic chemotherapy, CDK4/6 inhibitors are given at a fixed dose, irrespective of BMI or weight. This preplanned analysis of the global randomized PALLAS trial investigates the impact of BMI on the side-effect profile, treatment adherence, and efficacy of palbociclib.METHODSPatients were categorized at baseline according to WHO BMI categories. Neutropenia rates were assessed with univariable and multivariable logistic regression. Time to early discontinuation of palbociclib was analyzed with Fine and Gray competing risk models. Unstratified Cox models were used to investigate the association between BMI category and time to invasive disease-free survival (iDFS). 95% CIs were derived.RESULTSOf 5,698 patients included in this analysis, 68 (1.2%) were underweight, 2,082 (36.5%) normal weight, 1,818 (31.9%) overweight, and 1,730 (30.4%) obese at baseline. In the palbociclib arm, higher BMI was associated with a significant decrease in neutropenia (unadjusted odds ratio for 1-unit change, 0.93; 95% CI, 0.91 to 0.94; adjusted for age, race ethnicity, region, chemotherapy use, and Eastern Cooperative Oncology Group at baseline, 0.93; 95% CI, 0.92 to 0.95). This translated into a significant decrease in treatment discontinuation rate with higher BMI (adjusted hazard ratio [HR] for 10-unit change, 0.75; 95% CI, 0.67 to 0.83). There was no significant improvement in iDFS with the addition of palbociclib to ET in any weight category (normal weight HR, 0.84; 95% CI, 0.63 to 1.12; overweight HR, 1.10; 95% CI, 0.82 to 1.49; and obese HR, 0.95; 95% CI, 0.69 to 1.30) in this analysis early in follow-up (31 months).CONCLUSIONThis preplanned analysis of the PALLAS trial demonstrates a significant impact of BMI on side effects, dose reductions, early treatment discontinuation, and relative dose intensity. Additional long-term follow-up will further evaluate whether BMI ultimately affects outcome. This preplanned analysis of the PALLAS trial demonstrates a significant impact of BMI on side effects, dose reductions, early treatment discontinuation, and relative dose intensity.
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10.
  • Schweiker, Marcel, et al. (författare)
  • Evaluating assumptions of scales for subjective assessment of thermal environments – Do laypersons perceive them the way, we researchers believe?
  • 2020
  • Ingår i: Energy and Buildings. - : Elsevier BV. - 0378-7788. ; 211
  • Tidskriftsartikel (refereegranskat)abstract
    • People's subjective response to any thermal environment is commonly investigated by using rating scales describing the degree of thermal sensation, comfort, and acceptability. Subsequent analyses of results collected in this way rely on the assumption that specific distances between verbal anchors placed on the scale exist and that relationships between verbal anchors from different dimensions that are assessed (e.g. thermal sensation and comfort) do not change. Another inherent assumption is that such scales are independent of the context in which they are used (climate zone, season, etc.). Despite their use worldwide, there is indication that contextual differences influence the way the scales are perceived and therefore question the reliability of the scales’ interpretation. To address this issue, a large international collaborative questionnaire study was conducted in 26 countries, using 21 different languages, which led to a dataset of 8225 questionnaires. Results, analysed by means of robust statistical techniques, revealed that only a subset of the responses are in accordance with the mentioned assumptions. Significant differences appeared between groups of participants in their perception of the scales, both in relation to distances of the anchors and relationships between scales. It was also found that respondents’ interpretations of scales changed with contextual factors, such as climate, season, and language. These findings highlight the need to carefully consider context-dependent factors in interpreting and reporting results from thermal comfort studies or post-occupancy evaluations, as well as to revisit the use of rating scales and the analysis methods used in thermal comfort studies to improve their reliability.
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