| 1. |
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| 2. |
- Ferreira, MA, et al.
(författare)
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
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| 3. |
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| 4. |
- Wright, G. S., et al.
(författare)
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The Mid-Infrared Instrument for the James Webb Space Telescope, II: Design and Build
- 2015
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Ingår i: Publications of the Astronomical Society of the Pacific. - : IOP Publishing. - 0004-6280 .- 1538-3873. ; 127:953, s. 595-611
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Tidskriftsartikel (refereegranskat)abstract
- The Mid-InfraRed Instrument (MIRI) on the James Webb Space Telescope (JWST) provides measurements over the wavelength range 5 to 28: 5 mu m. MIRI has, within a single "package," four key scientific functions: photometric imaging, coronagraphy, single-source low-spectral resolving power (R similar to 100) spectroscopy, and medium-resolving power (R similar to 1500 to 3500) integral field spectroscopy. An associated cooler system maintains MIRI at its operating temperature of
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| 5. |
- Groenewold, Nynke A., et al.
(författare)
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Volume of subcortical brain regions in social anxiety disorder : mega-analytic results from 37 samples in the ENIGMA-Anxiety Working Group
- 2023
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Ingår i: Molecular Psychiatry. - : Springer Nature. - 1359-4184 .- 1476-5578. ; 28:3, s. 1079-1089
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Tidskriftsartikel (refereegranskat)abstract
- There is limited convergence in neuroimaging investigations into volumes of subcortical brain regions in social anxiety disorder (SAD). The inconsistent findings may arise from variations in methodological approaches across studies, including sample selection based on age and clinical characteristics. The ENIGMA-Anxiety Working Group initiated a global mega-analysis to determine whether differences in subcortical volumes can be detected in adults and adolescents with SAD relative to healthy controls. Volumetric data from 37 international samples with 1115 SAD patients and 2775 controls were obtained from ENIGMA-standardized protocols for image segmentation and quality assurance. Linear mixed-effects analyses were adjusted for comparisons across seven subcortical regions in each hemisphere using family-wise error (FWE)-correction. Mixed-effects d effect sizes were calculated. In the full sample, SAD patients showed smaller bilateral putamen volume than controls (left: d = −0.077, pFWE = 0.037; right: d = −0.104, pFWE = 0.001), and a significant interaction between SAD and age was found for the left putamen (r = −0.034, pFWE = 0.045). Smaller bilateral putamen volumes (left: d = −0.141, pFWE < 0.001; right: d = −0.158, pFWE < 0.001) and larger bilateral pallidum volumes (left: d = 0.129, pFWE = 0.006; right: d = 0.099, pFWE = 0.046) were detected in adult SAD patients relative to controls, but no volumetric differences were apparent in adolescent SAD patients relative to controls. Comorbid anxiety disorders and age of SAD onset were additional determinants of SAD-related volumetric differences in subcortical regions. To conclude, subtle volumetric alterations in subcortical regions in SAD were detected. Heterogeneity in age and clinical characteristics may partly explain inconsistencies in previous findings. The association between alterations in subcortical volumes and SAD illness progression deserves further investigation, especially from adolescence into adulthood.
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| 6. |
- Chen, F., et al.
(författare)
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Reply to "comment on 'Ultrafast terahertz-field-driven ionic response in ferroelectric BaTiO3 ' "
- 2018
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Ingår i: Physical Review B. - 2469-9950. ; 97:22
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Tidskriftsartikel (refereegranskat)abstract
- In this reply to S. Durbin's comment on our original paper "Ultrafast terahertz-field-driven ionic response in ferroelectric BaTiO3," we concur that his final equations 8 and 9 more accurately describe the change in diffracted intensity as a function of Ti displacement. We also provide an alternative derivation based on an ensemble average over unit cells. The conclusions of the paper are unaffected by this correction.
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| 7. |
- Gray, A. X., et al.
(författare)
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Ultrafast terahertz field control of electronic and structural interactions in vanadium dioxide
- 2018
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Ingår i: Physical Review B. - : AMER PHYSICAL SOC. - 2469-9950 .- 2469-9969. ; 98:4
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Tidskriftsartikel (refereegranskat)abstract
- Vanadium dioxide (VO2), an archetypal correlated-electron material, undergoes an insulator-metal transition near room temperature that exhibits electron-correlation-driven and structurally driven physics. Using ultrafast temperature- and fluence-dependent optical spectroscopy and x-ray scattering, we show that multiple interrelated electronic and structural processes in the nonequilibrium dynamics in VO2 can be disentangled in the time domain. Specifically, following intense subpicosecond terahertz (THz) electric-field excitation, a partial collapse of the insulating gap occurs within the first picosecond. At temperatures sufficiently close to the transition temperature and for THz peak fields above a threshold of approximately 1 MV/cm, this electronic reconfiguration initiates a change in lattice symmetry taking place on a slower timescale. We identify the kinetic energy increase of electrons tunneling in the strong electric field as the driving force, illustrating a promising method to control electronic and structural interactions in correlated materials on an ultrafast timescale.
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| 8. |
- Chen, F., et al.
(författare)
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Ultrafast terahertz-field-driven ionic response in ferroelectric BaTiO3
- 2016
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Ingår i: Physical Review B. - 1098-0121. ; 94:18
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Tidskriftsartikel (refereegranskat)abstract
- The dynamical processes associated with electric field manipulation of the polarization in a ferroelectric remain largely unknown but fundamentally determine the speed and functionality of ferroelectric materials and devices. Here we apply subpicosecond duration, single-cycle terahertz pulses as an ultrafast electric field bias to prototypical BaTiO3 ferroelectric thin films with the atomic-scale response probed by femtosecond x-ray-scattering techniques. We show that electric fields applied perpendicular to the ferroelectric polarization drive large-amplitude displacements of the titanium atoms along the ferroelectric polarization axis, comparable to that of the built-in displacements associated with the intrinsic polarization and incoherent across unit cells. This effect is associated with a dynamic rotation of the ferroelectric polarization switching on and then off on picosecond time scales. These transient polarization modulations are followed by long-lived vibrational heating effects driven by resonant excitation of the ferroelectric soft mode, as reflected in changes in the c-axis tetragonality. The ultrafast structural characterization described here enables a direct comparison with first-principles-based molecular-dynamics simulations, with good agreement obtained.
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| 9. |
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| 10. |
- McWhinney, Sean R, et al.
(författare)
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Association between body mass index and subcortical brain volumes in bipolar disorders-ENIGMA study in 2735 individuals.
- 2021
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Ingår i: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 26:11, s. 6806-6819
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Tidskriftsartikel (refereegranskat)abstract
- Individuals with bipolar disorders (BD) frequently suffer from obesity, which is often associated with neurostructural alterations. Yet, the effects of obesity on brain structure in BD are under-researched. We obtained MRI-derived brain subcortical volumes and body mass index (BMI) from 1134 BD and 1601 control individuals from 17 independent research sites within the ENIGMA-BD Working Group. We jointly modeled the effects of BD and BMI on subcortical volumes using mixed-effects modeling and tested for mediation of group differences by obesity using nonparametric bootstrapping. All models controlled for age, sex, hemisphere, total intracranial volume, and data collection site. Relative to controls, individuals with BD had significantly higher BMI, larger lateral ventricular volume, and smaller volumes of amygdala, hippocampus, pallidum, caudate, and thalamus. BMI was positively associated with ventricular and amygdala and negatively with pallidal volumes. When analyzed jointly, both BD and BMI remained associated with volumes of lateral ventricles and amygdala. Adjusting for BMI decreased the BD vs control differences in ventricular volume. Specifically, 18.41% of the association between BD and ventricular volume was mediatedby BMI (Z=2.73, p=0.006). BMI was associated with similar regional brain volumes as BD, including lateral ventricles, amygdala, and pallidum. Higher BMI may in part account for larger ventricles, one of the most replicated findings in BD. Comorbidity with obesity could explain why neurostructural alterations are more pronounced in some individuals with BD. Future prospective brain imaging studies should investigate whether obesity could be a modifiable risk factor for neuroprogression.
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| 11. |
- McWhinney, Sean R, et al.
(författare)
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Diagnosis of bipolar disorders and body mass index predict clustering based on similarities in cortical thickness-ENIGMA study in 2436 individuals.
- 2022
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Ingår i: Bipolar disorders. - : Wiley. - 1399-5618 .- 1398-5647. ; 24:5, s. 509-520
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Tidskriftsartikel (refereegranskat)abstract
- Rates of obesity have reached epidemic proportions, especially among people with psychiatric disorders. While the effects of obesity on the brain are of major interest in medicine, they remain markedly under-researched in psychiatry.We obtained body mass index (BMI) and magnetic resonance imaging-derived regional cortical thickness, surface area from 836 bipolar disorders (BD) and 1600 control individuals from 14sites within the ENIGMA-BD Working Group. We identified regionally specific profiles of cortical thickness using K-means clustering and studied clinical characteristics associated with individual cortical profiles.We detected two clusters based on similarities among participants in cortical thickness. The lower thickness cluster (46.8% of the sample) showed thinner cortex, especially in the frontal and temporal lobes and was associated with diagnosis of BD, higher BMI, and older age. BD individuals in the low thickness cluster were more likely to have the diagnosis of bipolar disorder I and less likely to be treated with lithium. In contrast, clustering based on similarities in the cortical surface area was unrelated to BD or BMI and only tracked age and sex.We provide evidence that both BD and obesity are associated with similar alterations in cortical thickness, but not surface area. The fact that obesity increased the chance of having low cortical thickness could explain differences in cortical measures among people with BD. The thinner cortex in individuals with higher BMI, which was additive and similar to the BD-associated alterations, may suggest that treating obesity could lower the extent of cortical thinning in BD.
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| 12. |
- McWhinney, Sean R, et al.
(författare)
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Mega-analysis of association between obesity and cortical morphology in bipolar disorders: ENIGMA study in 2832 participants.
- 2023
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Ingår i: Psychological medicine. - 1469-8978. ; 53:14, s. 6743-6753
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is highly prevalent and disabling, especially in individuals with severe mental illness including bipolar disorders (BD). The brain is a target organ for both obesity and BD. Yet, we do not understand how cortical brain alterations in BD and obesity interact.We obtained body mass index (BMI) and MRI-derived regional cortical thickness, surface area from 1231 BD and 1601 control individuals from 13 countries within the ENIGMA-BD Working Group. We jointly modeled the statistical effects of BD and BMI on brain structure using mixed effects and tested for interaction and mediation. We also investigated the impact of medications on the BMI-related associations.BMI and BD additively impacted the structure of many of the same brain regions. Both BMI and BD were negatively associated with cortical thickness, but not surface area. In most regions the number of jointly used psychiatric medication classes remained associated with lower cortical thickness when controlling for BMI. In a single region, fusiform gyrus, about a third of the negative association between number of jointly used psychiatric medications and cortical thickness was mediated by association between the number of medications and higher BMI.We confirmed consistent associations between higher BMI and lower cortical thickness, but not surface area, across the cerebral mantle, in regions which were also associated with BD. Higher BMI in people with BD indicated more pronounced brain alterations. BMI is important for understanding the neuroanatomical changes in BD and the effects of psychiatric medications on the brain.
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| 13. |
- Le Duc, D., et al.
(författare)
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Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cow
- 2022
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Ingår i: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 8:5
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Tidskriftsartikel (refereegranskat)abstract
- Steller's sea cow, an extinct sirenian and one of the largest Quaternary mammals, was described by Georg Steller in 1741 and eradicated by humans within 27 years. Here, we complement Steller's descriptions with paleogenomic data from 12 individuals. We identified convergent evolution between Steller's sea cow and cetaceans but not extant sirenians, suggesting a role of several genes in adaptation to cold aquatic (or marine) environments. Among these are inactivations of lipoxygenase genes, which in humans and mouse models cause ichthyosis, a skin disease characterized by a thick, hyperkeratotic epidermis that recapitulates Steller's sea cows' reportedly bark-like skin. We also found that Steller's sea cows' abundance was continuously declining for tens of thousands of years before their description, implying that environmental changes also contributed to their extinction.
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| 14. |
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| 15. |
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| 16. |
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| 17. |
- Esmaeildoost, Niloofar, et al.
(författare)
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Anomalous temperature dependence of the experimental x-ray structure factor of supercooled water
- 2021
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Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 155:21, s. 214501-214501
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Tidskriftsartikel (refereegranskat)abstract
- The structural changes of water upon deep supercooling were studied through wide-angle x-ray scattering at SwissFEL. The experimental setup had a momentum transfer range of 4.5 Å-1, which covered the principal doublet of the x-ray structure factor of water. The oxygen-oxygen structure factor was obtained for temperatures down to 228.5 ± 0.6 K. Similar to previous studies, the second diffraction peak increased strongly in amplitude as the structural change accelerated toward a local tetrahedral structure upon deep supercooling. We also observed an anomalous trend for the second peak position of the oxygen-oxygen structure factor (q2). We found that q2 exhibits an unprecedented positive partial derivative with respect to temperature for temperatures below 236 K. Based on Fourier inversion of our experimental data combined with reference data, we propose that the anomalous q2 shift originates from that a repeat spacing in the tetrahedral network, associated with all peaks in the oxygen-oxygen pair-correlation function, gives rise to a less dense local ordering that resembles that of low-density amorphous ice. The findings are consistent with that liquid water consists of a pentamer-based hydrogen-bonded network with low density upon deep supercooling.
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| 18. |
- Hansen, K., et al.
(författare)
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Qualification and Integration Aspects of the DSSC Mega-Pixel X-Ray Imager
- 2019
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Ingår i: IEEE Transactions on Nuclear Science. - : Institute of Electrical and Electronics Engineers Inc.. - 0018-9499 .- 1558-1578. ; 66:8, s. 1966-1975
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Tidskriftsartikel (refereegranskat)abstract
- The focal-plane module is the key component of the DEPFET sensor with signal compression (DSSC) mega-pixel X-ray imager and handles the data of 128 ×512 pixels. We report on assembly-related aspects, discuss the experimental investigation of bonding behavior of different adhesives, and present the metrology and electrical test results of the production. The module consists of two silicon (Si) sensors with flip-chip connected CMOS integrated circuits, a Si-heat spreader, a low-temperature co-fired ceramics circuit board, and a molybdenum frame. A low-modulus urethane-film adhesive fills the gaps between on-board components and frame. It is also used between board and heat spreader, reduces the misfit strain, and minimizes the module warpage very efficiently. The heat spreader reduces the on-board temperature gradient by about one order of magnitude. The placement precision of the bare modules to each other and the frame is characterized by a standard deviation below 10 and 65 μ m, respectively. The displacement due to the in-plane rotation and vertical tilting errors remains below 80 and 50 μm, respectively. The deflection of the sensor plane shows a mean value below 30 μm with a standard deviation below 15 μm. Less than 4% of the application-specified integrated circuits (ASICs) exhibit a malfunction. More than two-thirds of the sensors have a maximum leakage current below 1 μA. © 1963-2012 IEEE.
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| 19. |
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| 20. |
- Gasteiger, J., et al.
(författare)
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Representative wavelengths absorption parameterization applied to satellite channels and spectral bands
- 2014
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Ingår i: Journal of Quantitative Spectroscopy and Radiative Transfer. - : Elsevier BV. - 0022-4073 .- 1879-1352. ; 148, s. 99-115
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Tidskriftsartikel (refereegranskat)abstract
- Accurate modeling of wavelength-integrated radiative quantities, e.g. integrated over a spectral band or an instrument channel response function, requires computations for a large number of wavelengths if the radiation is affected by gas absorption which typically comprises a complex line structure. In order to increase computational speed of modeling radiation in the Earth׳s atmosphere, we parameterized wavelength-integrals as weighted means over representative wavelengths. We parameterized spectral bands of different widths (1 cm−1, 5 cm−1, and 15 cm−1) in the solar and thermal spectral range, as well as a number of instrument channels on the ADEOS, ALOS, EarthCARE, Envisat, ERS, Landsat, MSG, PARASOL, Proba, Sentinel, Seosat, and SPOT satellites. A root mean square relative deviation lower than 1% from a “training data set” was selected as the accuracy threshold for the parameterization of each band and channel. The training data set included high spectral resolution calculations of radiances at the top of atmosphere for a set of highly variable atmospheric states including clouds and aerosols. The gas absorption was calculated from the HITRAN 2004 spectroscopic data set and state-of-the-art continuum models using the ARTS radiative transfer model. Three representative wavelengths were required on average to fulfill the accuracy threshold. We implemented the parameterized spectral bands and satellite channels in the uvspec radiative transfer model which is part of the libRadtran software package. The parameterization data files, including the representative wavelengths and weights as well as lookup tables of absorption cross sections of various gases, are provided at the libRadtran webpage.In the paper we describe the parameterization approach and its application. We validate the approach by comparing modeling results of parameterized bands and channels with results from high spectral resolution calculations for atmospheric states that were not part of the training data set. Irradiances are not only compared at the top of atmosphere but also at the surface for which this parameterization approach was not optimized. It is found that the parameterized bands and channels provide a good compromise between computation time requirements and uncertainty for typical radiative transfer problems. In particular for satellite radiometer simulations the computation time requirement and the parameterization uncertainty is low. Band-integrated irradiances at any level as well as heating and cooling rates below 20 km can also be modeled with low uncertainty.
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| 21. |
- Lemke, L, et al.
(författare)
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Magnetic extended x-ray absorption fine structure at the L-3,L-2 edges of 3d elements
- 1998
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Ingår i: JOURNAL OF PHYSICS-CONDENSED MATTER. - : IOP PUBLISHING LTD. - 0953-8984. ; 10:8, s. 1917-1930
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- We report normal and magnetic extended x-ray absorption fine-structure (EXAFS) measurements made on 30 ML Fe films on Cu(001) substrates at the L-3,L-2 edges. The magnetic EXAFS at the L edges of 3d metals is particularly important as it can be used to pr
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| 22. |
- Rosenhahn, Erik, et al.
(författare)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
- 2022
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
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Tidskriftsartikel (refereegranskat)abstract
- PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.
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| 23. |
- Srivastava, P, et al.
(författare)
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Magnetic extended x-ray absorption fine structure at the L-3,L-2 edges of Fe and Co on Cu(001)
- 1998
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Ingår i: JOURNAL OF APPLIED PHYSICS. - : AMER INST PHYSICS. - 0021-8979. ; 83:11, s. 7025-7027
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- We report magnetic extended x-ray absorption fine structure (EXAFS) measurements on 30 monolayer Fe and Co films on Cu(001) substrates at L-3,L-2 edges. For 3d transition metals, the magnetic EXAFS at the L edges is of great interest since it probes final
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