| 1. |
- Abreu, P., et al.
(author)
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Search for sleptons in e+e- collisions at √s = 183 to 189 GeV
- 2001
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In: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 19:1, s. 29-42
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Journal article (peer-reviewed)abstract
- Data taken by the DELPHI experiment at centre-of-mass energies of 183 GeV and 189 GeV with a total integrated luminosity of 212 pb-1 have been used to search for the supersymmetric partners of the electrons, muons, and taus in the context of the Minimal Supersymmetric Standard Model (MSSM). The decay topologies searched for were the direct decay (ℓ̃ → ℓx̃), producing acoplanar lepton pairs plus missing energy, and the cascade decay (ℓ → ℓx̃0 2 → ℓγx̃0 1), producing acoplanar lepton and photon pairs plus missing energy. The observed number of events is in agreement with Standard Model predictions. The 95% CL excluded mass limits for selectrons, smuons and staus are mẽ ≤ 87 GeV/c2, mμ̃ ≤ 80 GeV/c2 and mτ̃ 75 GeV/c2, respectively, for values of μ=-200 GeV/c2 and tanβ=1.5.
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| 2. |
- Anney, R. J. L., et al.
(author)
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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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In: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Journal article (peer-reviewed)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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| 3. |
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| 4. |
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| 6. |
- Weiner, D. J., et al.
(author)
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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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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Journal article (peer-reviewed)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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| 7. |
- de Groot, J., et al.
(author)
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Improved liquid-jet laser-plasma source for X-ray microscopy
- 2003
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In: Journal de Physique IV. - : EDP Sciences. - 1155-4339 .- 1764-7177. ; 104, s. 121-122
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Journal article (peer-reviewed)abstract
- We increase the x-ray flux from a liquid-jet laser-plasma x-ray source by optimizing the target geometry. A new nozzle fabrication method allows us to produce stable microscopic liquid jets with a wide range of diameters. The improved x-ray flux is demonstrated by optimizing the diameter of an ethanol liquid-jet for our 3 ns, square=532 nm Nd:YAG laser and measuring the flux at the square=3.37 rim C VI emission line. Preliminary data suggest that the x-ray flux can be increased by more than a factor of 4 compared to previous experiments. The goal is to significantly reduce the exposure time of our laser-plasma-based compact x-ray microscope by improving the source.
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| 8. |
- de Groot, J., et al.
(author)
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Target optimization of a water-window liquid-jet laser-plasma source
- 2003
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In: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 94:6, s. 3717-3721
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Journal article (peer-reviewed)abstract
- We optimize the water-window x-ray flux and debris deposition for a liquid-jet laser plasma source by varying both the target diameter and the jet material. For two target liquids, methanol and ethanol, measurements of the lambda = 3.37 nm C vi x-ray flux and the debris deposition rates are presented as function of the jet diameter. It is shown that the effective carbon debris deposition is more than I order of magnitude smaller for methanol, while the x-ray flux is reduced only similar to40%. The reduction in carbon debris deposition may be explained by reactive ion etching by oxygen from the plasma. Thus, the methanol water-window source may be operated at a 5-10X higher flux without increasing the debris deposition. The optimization potentially allows a reduction of the exposure time of compact soft x-ray microscopy or other water-window applications based on such sources without increasing damage to sensitive x-ray optics.
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| 9. |
- Hansson, B. A. M., et al.
(author)
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Characterisation of a liquid-xenon jet laser-plasma extreme-ultraviolet source
- 2004
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In: Review of Scientific Instruments. - : AIP Publishing. - 0034-6748 .- 1089-7623. ; 75:6, s. 2122-2129
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Journal article (peer-reviewed)abstract
- A liquid-xenon-jet laser-plasma source for extreme-ultraviolet (EUV) and soft-x-ray generation has been characterized. Being a source candidate for EUV lithography (EUVL), we especially focus on parameters important for the integration of the source in EUVL systems. The deep-ultraviolet (DUV) out-of-band radiation (=120–400 nm) was quantified, to within a factor of two, using a flying-circus tool together with a transmission-grating spectrograph resulting in a total DUV conversion efficiency (CE) of ~0.33%/2sr. The size and the shape of the xenon plasma was investigated using an in-band-only EUV microscope, based on a spherical Mo/Si multilayer mirror and a charge-coupled device detector. Scalability of the source size from 20–270 µm full width at half maximum was shown. The maximum repetition-rate sustainable by the liquid-xenon-jet target was simulated by a double-pulse experiment indicating feasibility of >17 kHz operation. The xenon-ion energy distribution from the plasma was determined in a time-of-flight experiment with a Faraday-cup detector showing the presence of multi-kilo-electron-volt ions. Sputtering of silicon witness plates exposed to the plasma was observed, while a xenon background of >1 mbar was shown to eliminate the sputtering. It is concluded that the source has potential to meet the requirements of future EUVL systems.
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| 10. |
- Hemberg, O., et al.
(author)
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Stability of droplet-target laser-plasma soft x-ray sources
- 2000
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In: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 88:9, s. 5421-5425
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Journal article (peer-reviewed)abstract
- The spatial stability of microscopic target droplets used for laser-plasma soft x-ray generation in vacuum is investigated. A long-term drift in drop position is characterized with an ultrafast laser-diode imaging system. The drift is experimentally and theoretically shown to be due to a temperature-induced increase in target-liquid viscosity as a result of evaporation. Finally, the drift is compensated for and stable, long-term unattended operation of the source is demonstrated with an automatic phase-delay drop-to-laser synchronizing system. This is important for future compact lithography and microscopy systems.
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| 11. |
- Hertz, Hans M., et al.
(author)
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Electron-Impact Liquid-Metal-Jet Hard x-Ray Sources
- 2014
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In: Comprehensive Biomedical Physics. - : Elsevier. - 9780444536327 ; , s. 91-109
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Book chapter (other academic/artistic)abstract
- The power and brightness of electron-impact microfocus x-ray sources have long been limited by thermal damage in the target. This is a major constraint for a wide range of biomedical applications, from imaging to diffraction. Here, we describe the development of an x-ray microfocus source based on a new target concept, the liquid-metal jet (LMJ). The regenerative nature of this target allows for significantly higher e-beam power density than on conventional targets, resulting in this source showing promise for >. 100. × higher brightness than state-of-the-art sources. We first discuss the basic physics of the two important subsystems of the source, LMJ in vacuum and focused electron-beam systems, and then describe the properties of several versions of the source, from early prototypes to the first LMJ sources now reaching the market. Finally, we review some early applications of the source for biomedical imaging and diffraction.
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| 12. |
- Hertz, Hans M., et al.
(author)
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Liquid-jet laser-plasma X-ray sources for microscopy and lithography
- 2001
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In: Journal de Physique IV. - : EDP Sciences. - 1155-4339 .- 1764-7177. ; 11:PR2, s. 389-396
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Journal article (peer-reviewed)abstract
- We review the development of compact laser-plasma soft x-ray sources based on microscopic liquid-drop or liquid-jet targets. It is shown that such sources provide practically debris-free, high-flux operation at water-window and EUV wavelengths. This regenerative and solid-density target system holds promise for the generation of high-average power using high-repetition-rate lasers. Application of the source to compact x-ray microscopy, multi layer-op tics characterization and EUV lithography is briefly discussed.
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| 13. |
- Hertz, Hans M., et al.
(author)
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Table-top X-ray microscopy : Sources, optics and applications
- 2003
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In: Journal de Physique IV. - : EDP Sciences. - 1155-4339 .- 1764-7177. ; 104, s. 115-119
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Journal article (peer-reviewed)abstract
- We have developed the first operative compact sub-visible-resolution x-ray microscope for the water-window region (lambda = 2.3 - 4.4 nm). The microscope is based on a 100 Hz liquid-jet-target laser-plasma x-ray source, normal-incidence multilayer condenser optics, diffractive zone plate optics and CCD detection. In the present article we emphasize the system's aspects and summarize the recent progress on the components, all aiming at the reduction of the exposure time of a few seconds, i.e., similar to bending-magnet based microscopes. This primarily includes improved laser-plasma source, improved condenser optics using Cr/Sc multilayers, and improved image handling capability using wavelet algorithms. Such compact short-exposure time microscopes would significantly increase the applicability of the technology.
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| 14. |
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| 15. |
- Jais, JP, et al.
(author)
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X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A "European community Alport syndrome concerted action" study
- 2003
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In: Journal of the American Society of Nephrology. - 1046-6673. ; 14:10, s. 2603-2610
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Journal article (peer-reviewed)abstract
- Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of heterozygous girls and women belonging to the 195 families with proven COL4A5 mutation are compared with those of hemizygous boys and men. Hematuria was observed in 95% of carriers and consistently absent in the others. Proteinuria, hearing loss, and ocular defects developed in 75%, 28%, and 15%, respectively. The probability of developing end-stage renal disease or deafness before the age of 40 yr was 12% and 10%, respectively, in girls and women versus 90 and 80%, respectively, in boys and men. The risk of progression to end-stage renal disease appears to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect.
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| 16. |
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| 17. |
- Kupers, LK, et al.
(author)
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Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1893-
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Journal article (peer-reviewed)abstract
- Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, we find that DNA methylation in neonatal blood is associated with birthweight at 914 sites, with a difference in birthweight ranging from −183 to 178 grams per 10% increase in methylation (PBonferroni < 1.06 x 10−7). In additional analyses in 7,278 participants, <1.3% of birthweight-associated differential methylation is also observed in childhood and adolescence, but not adulthood. Birthweight-related CpGs overlap with some Bonferroni-significant CpGs that were previously reported to be related to maternal smoking (55/914, p = 6.12 x 10−74) and BMI in pregnancy (3/914, p = 1.13x10−3), but not with those related to folate levels in pregnancy. Whether the associations that we observe are causal or explained by confounding or fetal growth influencing DNA methylation (i.e. reverse causality) requires further research.
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| 18. |
- Markaki, I., et al.
(author)
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Cerebrospinal Fluid Levels of Kininogen-1 Indicate Early Cognitive Impairment in Parkinson’s Disease
- 2020
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In: Movement Disorders. - : John Wiley & Sons. - 0885-3185 .- 1531-8257.
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Journal article (peer-reviewed)abstract
- Background: Cognitive impairment is common in patients with PD. Core markers of Alzheimer’s dementia have been related also to PD dementia, but no disease-specific signature to predict PD dementia exists to date. Objectives: The aim of this study was to investigate CSF markers associated with cognition in early PD. Methods: A high-throughput suspension bead array examined 216 proteins in CSF of 74 PD patients in the AETIONOMY project. Cognitive function was assessed with Repeatable Battery for the Assessment of the Neuropsychological Status, Montreal Cognitive Assessment, and Mini-Mental State Examination. Results: Of 69 patients with complete data, 34 had high (≥90) and 35 had low Repeatable Battery for the Assessment of the Neuropsychological Status total score (<90). Of 14 proteins in CSF that differed in levels between groups, increased kininogen-1, validated with several antibodies, was independently associated with lower Repeatable Battery for the Assessment of the Neuropsychological Status and Montreal Cognitive Assessment scores after adjustment for confounders. Conclusions: Kininogen-1 levels in CSF may serve as a marker of cognitive impairment in PD.
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| 22. |
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| 23. |
- Stemann Larsen, Pernille, et al.
(author)
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Pregnancy and Birth Cohort Resources in Europe: a Large Opportunity for Aetiological Child Health Research
- 2013
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In: Paediatric and Perinatal Epidemiology. - : Wiley-Blackwell. - 0269-5022 .- 1365-3016. ; 27:4, s. 393-414
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Research review (peer-reviewed)abstract
- Background During the past 25 years, many pregnancy and birth cohorts have been established. Each cohort provides unique opportunities for examining associations of early-life exposures with child development and health. However, to fully exploit the large amount of available resources and to facilitate cross-cohort collaboration, it is necessary to have accessible information on each cohort and its individual characteristics. The aim of this work was to provide an overview of European pregnancy and birth cohorts registered in a freely accessible database located at http://www.birthcohorts.net. Methods European pregnancy and birth cohorts initiated in 1980 or later with at least 300 mother-child pairs enrolled during pregnancy or at birth, and with postnatal data, were eligible for inclusion. Eligible cohorts were invited to provide information on the data and biological samples collected, as well as the timing of data collection. Results In total, 70 cohorts were identified. Of these, 56 fulfilled the inclusion criteria encompassing a total of more than 500000 live-born European children. The cohorts represented 19 countries with the majority of cohorts located in Northern and Western Europe. Some cohorts were general with multiple aims, whilst others focused on specific health or exposure-related research questions. Conclusion This work demonstrates a great potential for cross-cohort collaboration addressing important aspects of child health. The web site, http://www.birthcohorts.net, proved to be a useful tool for accessing information on European pregnancy and birth cohorts and their characteristics.
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| 25. |
- Wiklund, Martin, et al.
(author)
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Fluorescence-microscopy-based image analysis for analyte-dependent particle doublet detection in a single-step immuno agglutination assay
- 2005
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In: Analytical Biochemistry. - : Elsevier BV. - 0003-2697 .- 1096-0309. ; 338:1, s. 90-101
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Journal article (peer-reviewed)abstract
- A novel fluorescence-microscopy-based image analysis method for classification of singlet and doublet latex particles is demonstrated and applied to a particle-based immunoagglutination assay for quantification of biomolecules in microliter-volume bulk samples. The image analysis method, verified by flow cytometric agglutination analysis, is based on a pattern recognition algorithm employing Gaussian-base-function fitting which allows robust identification and counting of singlets, doublets, and higher agglomerates of fluorescent microparticles. The immunoagglutination assay is experimentally modeled by a biotin-streptavidin interaction, with the goal of both theoretically and experimentally investigating the performance of a general immunoagglutination-based assay. For this purpose a theoretical model of the initial agglutination kinetics, based on particle diffusion combined with a steric factor determined by the level of specific and nonspecific agglutination, was developed. The theoretical model combined with the experimental data can be used to optimize an agglutination-based assay with regard to sensitivity and dynamic range and to estimate the affinity, receptor surface density, molecular and binding site sizes, and level of nonspecific binding that is present in the assay. The experimental results are in good agreement with the theoretical model, indicating the usefulness of the model for immunoagglutination assay optimization.
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