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| 6. |
- Munn-Chernoff, M. A., et al.
(author)
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
- 2021
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In: Addiction Biology. - : Wiley. - 1355-6215 .- 1369-1600. ; 26:1
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Journal article (peer-reviewed)abstract
- Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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| 8. |
- Bryois, J., et al.
(author)
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
- 2020
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
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Journal article (peer-reviewed)abstract
- Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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| 9. |
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| 10. |
- Watson, H. J., et al.
(author)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
-
Journal article (peer-reviewed)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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| 16. |
- Anderson, Emma K., 1986-, et al.
(author)
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Fragmentation of and electron detachment from hot copper and silver dimer anions : A comparison
- 2023
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In: Physical Review A: covering atomic, molecular, and optical physics and quantum information. - 2469-9926 .- 2469-9934. ; 107:6
-
Journal article (peer-reviewed)abstract
- We measured the spontaneous decays of internally hot copper and silver dimer anions, and , stored in one of the two ion-beam storage rings of the Double Electrostatic Ion Ring Experiment (DESIREE) at Stockholm University. A coincidence detection technique was utilized enabling essentially background-free measurements of -> Cu + Cu- and -> Ag + Ag- fragmentation rates. Furthermore, the total rates of neutral decay products (monomers and dimers) were measured and the relative contributions of fragmentation and electron emission ( -> Cu2 + e- and -> Ag2 + e-) were deduced as functions of storage time. Fragmentation is completely dominant at early times. However, after about 20 ms of storage, electron emission is observed and becomes the leading decay path after 100 ms for both dimer anions. The branching ratios between fragmentation and electron emission (vibrationally assisted autodetachment processes) are very nearly the same for and Ag-2 throughout the present storage cycle of 10 seconds. This is surprising considering the difference between the electron affinities of the neutral dimers, Cu2 and Ag2, and the difference between the and the dissociation energies.
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| 22. |
- Zhaunerchyk, Vitali, et al.
(author)
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Disentangling formation of multiple-core holes in aminophenol molecules exposed to bright X-FEL radiation
- 2015
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In: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 48:24
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Journal article (peer-reviewed)abstract
- Competing multi-photon ionization processes, some leading to the formation of double core hole states, have been examined in 4-aminophenol. The experiments used the linac coherent light source (LCLS) x-ray free electron laser, in combination with a time-of-flight magnetic bottle electron spectrometer and the correlation analysis method of covariance mapping. The results imply that 4-aminophenol molecules exposed to the focused x-ray pulses of the LCLS sequentially absorb more than two x-ray photons, resulting in the formation of multiple core holes as well as in the sequential removal of photoelectrons and Auger electrons (so-called PAPA sequences).
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| 23. |
- Chartkunchand, K. C., et al.
(author)
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Lifetimes of bound excited states of Pt-
- 2017
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In: Journal of Physics: Conference Series, Vol. 875, no. 022051. - : IOP Publishing. - 1742-6588.
-
Conference paper (peer-reviewed)abstract
- Measurements of the radiative lifetimes of the two excited states of the platinum anion Pt- are presented. Pt- ions stored in the cryogenic ion storage ring DESIREE were photodetached at different photon wavelengths and the resulting yield of neutral Pt measured as a function of time was recorded. Analysis of the neutral decay curves show a 2.54 +/- 0.10 s lifetime for the higher-lying 5d(10)6(s) S-2(1/2) excited state and a lifetime in the range of 50-200 ms for the lower- lying 5d(9)6(s)(2) D-2(3/2) excited state. This is the first study to report the lifetime of a bound anion excited state with an electron configuration different from that of the anion ground state.
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| 24. |
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| 25. |
- Mayes, Maureen D, et al.
(author)
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Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.
- 2014
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 94:1, s. 47-61
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Journal article (peer-reviewed)abstract
- In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.
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| 26. |
- Zhaunerchyk, Vitali, et al.
(author)
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Using covariance mapping to investigate the dynamics of multi-photon ionization processes of Ne atoms exposed to X-FEL pulses
- 2013
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In: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 46:16, s. 164034-
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Journal article (peer-reviewed)abstract
- We report on a detailed investigation into the electron emission processes of Ne atoms exposed to intense femtosecond x-ray pulses, provided by the Linac Coherent Light Source Free Electron Laser (FEL) at Stanford. The covariance mapping technique is applied to analyse the data, and the capability of this approach to disentangle both linear and nonlinear correlation features which may be hidden on coincidence maps of the same data set is demonstrated. Different correction techniques which enable improvements on the quality of the spectral features extracted from the covariance maps are explored. Finally, a method for deriving characteristics of the x-ray FEL pulses based on covariance mapping in combination with model simulations is presented.
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| 27. |
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| 28. |
- Chartkunchand, Kiattichart C., et al.
(author)
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Dianion diagnostics in DESIREE : High-sensitivity detection of C-n(2-) from a sputter ion source
- 2018
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In: Review of Scientific Instruments. - : AIP Publishing. - 0034-6748 .- 1089-7623. ; 89:3
-
Journal article (peer-reviewed)abstract
- A sputter ion source with a solid graphite target has been used to produce dianions with a focus on carbon cluster dianions, C-n(2-), with n = 7-24. Singly and doubly charged anions from the source were accelerated together to kinetic energies of 10 keV per atomic unit of charge and injected into one of the cryogenic (13 K) ion-beam storage rings of the Double ElectroStatic Ion Ring Experiment facility at Stockholm University. Spontaneous decay of internally hot C-n(2-) dianions injected into the ring yielded C-n(2-) anions with kinetic energies of 20 keV, which were counted with a microchannel plate detector. Mass spectra produced by scanning the magnetic field of a 90 degrees analyzing magnet on the ion injection line reflect the production of internally hot C-7(2-) - C-24(2-) dianions with lifetimes in the range of tens of microseconds to milliseconds. In spite of the high sensitivity of this method, no conclusive evidence of C-6(2-) was found while there was a clear C-7(2-) signal with the expected isotopic distribution. This is consistent with earlier experimental studies and with theoretical predictions. An upper limit is deduced for a C-6(2-) signal that is two orders-of-magnitude smaller than that for C-7(2-). In addition, CnO2- and CnCu2- dianions were detected.
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| 29. |
- Chartkunchand, Kiattichart C., et al.
(author)
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Radiative lifetimes of the bound excited states of Pt-
- 2016
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In: Physical Review A - Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 94:3
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Journal article (peer-reviewed)abstract
- © 2016 American Physical Society.The intrinsic radiative lifetimes of the 5d106sS1/22 and 5d96s2 D3/22 bound excited states in the platinum anion Pt- have been studied at cryogenic temperatures at the Double ElectroStatic Ion Ring Experiment (DESIREE) facility at Stockholm University. The intrinsic lifetime of the higher-lying 5d106s S1/22 state was measured to be 2.54±0.10s, while only a lifetime in the range of 50-200 ms could be estimated for the 5d96s2 D3/22 fine-structure level. The storage lifetime of the Pt- ion beam was measured to be a little over 15 min at a ring temperature of 13K. The present study reports the lifetime of an atomic negative ion in an excited bound state with an electron configuration different from that of the ground state.
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| 30. |
- Fattibene, P, et al.
(author)
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The 4th international comparison on EPR dosimetry with tooth enamel Part 1: Report on the results
- 2011
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In: Radiation Measurements. - : Elsevier. - 1350-4487 .- 1879-0925. ; 46:9, s. 765-771
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Journal article (peer-reviewed)abstract
- This paper presents the results of the 4th International Comparison of in vitro electron paramagnetic resonance dosimetry with tooth enamel, where the performance parameters of tooth enamel dosimetry methods were compared among sixteen laboratories from all over the world. The participating laboratories were asked to determine a calibration curve with a set of tooth enamel powder samples provided by the organizers. Nine molar teeth extracted following medical indication from German donors and collected between 1997 and 2007 were prepared and irradiated at the Helmholtz Zentrum Munchen. Five out of six samples were irradiated at 0.1, 0.2, 0.5, 1.0 and 1.5 Gy air kerma; and one unirradiated sample was kept as control. The doses delivered to the individual samples were unknown to the participants, who were asked to measure each sample nine times, and to report the EPR signal response, the mass of aliquots measured, and the parameters of EPR signal acquisition and signal evaluation. Critical dose and detection limit were calculated by the organizers on the basis of the calibration-curve parameters obtained at every laboratory. For calibration curves obtained by measuring every calibration sample three times, the mean value of the detection limit was 205 mGy, ranging from 56 to 649 mGy. The participants were also invited to provide the signal response and the nominal dose of their current dose calibration curve (wherever available), the critical dose and detection limit of which were also calculated by the organizers.
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| 31. |
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| 32. |
- Krotkus, A., et al.
(author)
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Be-doped low-temperature-grown GaAs material for optoelectronic switches
- 2002
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In: IEE Proceedings - Optoelectronics. - : Institution of Engineering and Technology (IET). - 1350-2433 .- 1359-7078. ; 149:3, s. 111-115
-
Journal article (peer-reviewed)abstract
- Structural, electrical and recombination properties of Be-doped low-temperature MBE grown (LTG) GaAs have been investigated by using a number of different experimental techniques. These properties were analysed with respect to the applications of LTG GaAs in ultrafast optoelectronic devices. It has been found that a moderate Be-doping improves the structural quality of the layers and does not affect their semi-insulating behaviour. Electron and hole capture cross-sections, critical parameters for the design of optoelectronic devices from LTG GaAs, equal to sigma(n) = 1.1 x 10(-13) and sigma(p) = 1.8 x 10(-15) cm(2) were also determined.
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| 33. |
- Schmidt, Henning T., et al.
(author)
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Rotationally Cold OH- Ions in the Cryogenic Electrostatic Ion-Beam Storage Ring DESIREE
- 2017
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 119:7
-
Journal article (peer-reviewed)abstract
- We apply near-threshold laser photodetachment to characterize the rotational quantum level distribution of OH- ions stored in the cryogenic ion-beam storage ring DESIREE at Stockholm University. We find that the stored ions relax to a rotational temperature of 13.4 +/- 0.2 K with 94.9 +/- 0.3% of the ions in the rotational ground state. This is consistent with the storage ring temperature of 13.5 +/- 0.5 K as measured with eight silicon diodes but in contrast to all earlier studies in cryogenic traps and rings where the rotational temperatures were always much higher than those of the storage devices at their lowest temperatures. Furthermore, we actively modify the rotational distribution through selective photodetachment to produce an OH- beam where 99.1 +/- 0.1% of approximately one million stored ions are in the J = 0 rotational ground state. We measure the intrinsic lifetime of the J = 1 rotational level to be 145 +/- 28 s.
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| 34. |
- Watson, Hunna J., et al.
(author)
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Common Genetic Variation and Age of Onset of Anorexia Nervosa
- 2022
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In: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
-
Journal article (peer-reviewed)abstract
- BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
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| 35. |
- Alim, MA, et al.
(author)
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Pleckstrin Levels Are Increased in Patients with Chronic Periodontitis and Regulated via the MAP Kinase-p38α Signaling Pathway in Gingival Fibroblasts
- 2022
-
In: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 12, s. 801096-
-
Journal article (peer-reviewed)abstract
- Chronic periodontitis (CP) is a bacteria-driven inflammatory disease characterized by the breakdown of gingival tissue, the periodontal ligament, and alveolar bone, leading ultimately to tooth loss. We previously reported the pleckstrin gene (PLEK) to be highly upregulated in gingival tissue of patients with CP and the only gene concurrently upregulated in other inflammatory diseases including rheumatoid arthritis and cardiovascular diseases. Using saliva from 169 individuals diagnosed with CP and healthy controls, we investigated whether pleckstrin could serve as a novel biomarker of periodontitis. Additionally, we explored signal pathways involved in the regulation of PLEK using human gingival fibroblasts (HGFs). Pleckstrin levels were significantly higher (p < 0.001) in the saliva samples of patients with CP compared to controls and closely associated with CP severity. Immunohistochemical analysis revealed the expression of pleckstrin in inflammatory cells and gingival fibroblasts of CP patients. To explore the signal pathways involved in pleckstrin regulation, we stimulated HGFs with either interleukin-1β (IL-1β) or lipopolysaccharides (LPS) alone, or in combination with inhibitors targeting c-Jun N-terminal kinase, tyrosine kinase, protein kinase C, or p38 MAP kinase. Results showed that IL-1β and LPS significantly increased PLEK mRNA and pleckstrin protein levels. VX-745, the p38 MAP kinase inhibitor significantly decreased IL-1β- and LPS-induced pleckstrin levels at both the mRNA and the protein level. Together, these findings show that pleckstrin could serve as a salivary biomarker for the chronic inflammatory disease periodontitis and a regulator of inflammation via the p38 MAP kinase pathway.
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| 36. |
- Anderson, Emma K., et al.
(author)
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Decays of excited silver-cluster anions Agn, n=4 to 7, in the Double ElectroStatic Ion Ring ExpEriment
- 2018
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In: Physical Review A: covering atomic, molecular, and optical physics and quantum information. - 2469-9926 .- 2469-9934. ; 98:2
-
Journal article (peer-reviewed)abstract
- Spontaneous decays of small, hot silver-cluster anions Ag-n(-), n = 4-7, have been studied using one of the rings of the Double ElectroStatic Ion Ring ExpEriment (DESIREE). Observation of these decays over very long time scales is possible due to the very low residual gas pressure (similar to 10(-14)) and cryogenic (13 K) operation of DESIREE. The yield of neutral particles from stored beams of Ag-6(-) and Ag-2(-) anions were measured for 100 milliseconds and were found to follow single power-law behavior with millisecond time-scale exponential cutoffs. The Ag-4(-) and Ag-5(-) anions were stored for 60 s and the observed decays show two-component power-law behaviors. We present calculations of the rate constants for electron detachment from and fragmentation of Ag-4(-) and Ag-5(-). In these calculations, we assume that the internal energy distribution of the clusters are flat and with this we reproduce the early steep parts of the experimentally measured decay curves for Ag-4(-) and Ag-5(-) which extends to tens and hundreds of milliseconds, respectively. The fact that the calculations reproduce the early slopes of Ag-4(-) and Ag-5(-), which differ for the two cases, suggests that it is the changes in fragmentation rates with internal cluster energies of Ag-4(-) and Ag-5(-) rather than conditions in the ion source that determine this behavior. Comparisons with the measurements strongly suggest that the neutral particles detected in these time domains originate from Ag-4(-) -> Ag-3(-) + Ag and Ag-5(-) -> Ag-3(-) +Ag-2 fragmentation processes.
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| 37. |
- Babusci, D., et al.
(author)
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Search for light vector boson production in e(+)e(-) -> mu(+)mu(-)gamma interactions with the KLOE experiment
- 2014
-
In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 736, s. 459-464
-
Journal article (peer-reviewed)abstract
- We have searched for a light vector boson U, the possible carrier of a "dark force", with the KLOE detector at the DA Phi NE e(+)e(-) collider, motivated by astrophysical evidence for the presence of dark matter in the Universe. Using e(+)e(-) collisions collected with an integrated luminosity of 239.3 pb(-1), we look for a dimuon mass peak in the reaction e(+)e(-) -> mu(+)mu(-)gamma, corresponding to the decay U -> mu(+)mu(-). We find no evidence for a U vector boson signal. We set a 90% CL upper limit for the mixing parameter squared between the photon and the U boson of 1.6 x 10(-5) to 8.6 x 10(-7) for the mass region 520 < m(U) < 980 MeV.
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| 38. |
- Babusci, D., et al.
(author)
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Test of CPT and Lorentz symmetry in entangled neutral kaons with the KLOE experiment
- 2014
-
In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 730, s. 89-94
-
Journal article (peer-reviewed)abstract
- Neutral kaon pairs produced in phi decays in anti-symmetric entangled state can be exploited to search for violation of CPT symmetry and Lorentz invariance. We present an analysis of the CP-violating process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-) based on 1.7 fb(-1) of data collected by the KLOE experiment at the Frascati phi-factory DA Phi NE. The data are used to perform a Measurement of the CPT-violating parameters Delta a(mu) for neutral kaons in the context of the Standard Model Extension framework. The parameters measured in the reference frame of the fixed stars are: Delta a(0) = (-6.0 +/- 7.7(stat)+/- 3.1(syst)) X 10(-18) GeV, Delta a(x) = (0.9 +/- 1.5(stat)+/- 0.6(syst)) X 10(-18) GeV, Delta a(y) = (-2.0 +/- 1.5(stat)+/- 0.5(syst)) X 10(-18) GeV, Delta a(z) = (3.1 +/- 1.7(stat)+/- 0.5(syst)) X 10(-18) GeV. These are presently the most precise measurements in the quark sector of the Standard Model Extension. (C) 2014 The Authors. Published by Elsevier B.V.
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| 39. |
- Hansen, Klavs, 1958, et al.
(author)
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Spontaneous decay of small copper-cluster anions Cun− (n=3–6), on long time scales
- 2017
-
In: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947. ; 95:2
-
Journal article (peer-reviewed)abstract
- We have measured the spontaneous neutral particle emission from copper-cluster anions (Cun −, n = 3–6) stored at cryogenic temperatures in one of the electrostatic ion storage rings of the Double ElectroStatic Ion Ring ExpEriment facility at Stockholm University. The measured rate of emission from the stored Cu3 − ions follows a single power-law decay for about 1 ms but then decreases much more rapidly with time. The latter behavior may be due to a decrease in the density of available final states in Cu3 as the excitation energies of the decaying ions approach the electron detachment threshold. The emissions from Cu4 −, Cu5−, and Cu6− are well described by sums of two power laws that are quenched by radiative cooling of the stored ions with characteristic times between a few and hundreds of milliseconds. We relate these two-component behaviors to populations of stored ions with higher and lower angular momenta. In a separate experiment, we studied the laser-induced decay of Cu6− ions that were excited by 1.13- or 1.45-eV photons after 46 ms of storage.
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| 40. |
- Kristiansson, Moa K., 1989-, et al.
(author)
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High-precision electron affinity of oxygen
- 2022
-
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
-
Journal article (peer-reviewed)abstract
- Negative ions are important in many areas of science and technology, e.g., in interstellar chemistry, for accelerator-based radionuclide dating, and in anti-matter research. They are unique quantum systems where electron-correlation effects govern their properties. Atomic anions are loosely bound systems, which with very few exceptions lack optically allowed transitions. This limits prospects for high-resolution spectroscopy, and related negative-ion detection methods. Here, we present a method to measure negative ion binding energies with an order of magnitude higher precision than what has been possible before. By laser-manipulation of quantum-state populations, we are able to strongly reduce the background from photodetachment of excited states using a cryogenic electrostatic ion-beam storage ring where keV ion beams can circulate for up to hours. The method is applicable to negative ions in general and here we report an electron affinity of 1.461 112 972(87) eV for O-16. High-precision measurements are useful to find isotopic shifts and electron correlation. Here the authors measure electron affinity and hyperfine splitting of atomic oxygen with higher precision than previous studies.
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| 41. |
- Marcinkevicius, Saulius, et al.
(author)
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Influence of annealing on carrier dynamics in As ion-implanted epitaxially lifted-off GaAs layers
- 2000
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In: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 76:10, s. 1306-1308
-
Journal article (peer-reviewed)abstract
- Electrical and dynamical optical characterization of As-ion implanted and annealed GaAs has been performed. Changes of physical properties induced by annealing have been studied in detail by using layers annealed in small steps in the temperature range 500-700 degrees C. The carrier trapping rate increases exponentially with increase of inverse annealing temperature indicating that in ion-implanted GaAs ultrafast carrier capture occurs to the same trapping centers as in low-temperature-grown GaAs. Relatively large resistivity and electron mobility in As-implanted GaAs have been observed after annealing, which shows that this material possesses properties required for a variety of ultrafast optoelectronic applications.
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| 42. |
- Meijnikman, A. S., et al.
(author)
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Hyperinsulinemia Is Highly Associated With Markers of Hepatocytic Senescence in Two Independent Cohorts
- 2022
-
In: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 71:9, s. 1929-1936
-
Journal article (peer-reviewed)abstract
- Cellular senescence is an essentially irreversible growth arrest that occurs in response to various cellular stressors and may contribute to development of type 2 diabetes mellitus and nonalcoholic fatty liver disease (NAFLD). In this article, we investigated whether chronically elevated insulin levels are associated with cellular senescence in the human liver. In 107 individuals undergoing bariatric surgery, hepatic senescence markers were assessed by immunohistochemistry as well as transcriptomics. A subset of 180 participants from the ongoing Finnish Kuopio OBesity Surgery (KOBS) study was used as validation cohort. We found plasma insulin to be highly associated with various markers of cellular senescence in liver tissue. The liver transcriptome of individuals with high insulin revealed significant upregulation of several genes associated with senescence: p21, TGFβ, PI3K, HLA-G, IL8, p38, Ras, and E2F. Insulin associated with hepatic senescence independently of NAFLD and plasma glucose. By using transcriptomic data from the KOBS study, we could validate the association of insulin with p21 in the liver. Our results support a potential role for hyperinsulinemia in induction of cellular senescence in the liver. These findings suggest possible benefits of lowering insulin levels in obese individuals with insulin resistance.
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| 43. |
- Meyer, Esther, et al.
(author)
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
- 2017
-
In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 49, s. 223-237
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Journal article (peer-reviewed)abstract
- Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
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| 44. |
- Männistö, Ville, et al.
(author)
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Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition
- 2021
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In: Hepatology Communications. - : Ovid Technologies (Wolters Kluwer Health). - 2471-254X. ; 5, s. 244-257
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Journal article (peer-reviewed)abstract
- The protein phosphatase 1 regulatory subunit 3B (PPP1R3B) gene is a target of farnesoid X receptor (FXR), which is a major regulator of bile acid metabolism. Both PPP1R3B and FXR have been suggested to take part in glycogen metabolism, which may explain the association of PPP1R3B gene variants with altered hepatic computed tomography attenuation. We analyzed the effect of PPP1R3B rs4240624 variant on bile acid composition in individuals with obesity. The study cohort consisted of 242 individuals from the Kuopio Obesity Surgery Study (73 men, 169 women, age 47.6±9.0years, body mass index 43.2±5.4kg/m2) with PPP1R3B genotype and liver RNA sequencing (RNA-seq) data available. Fasting plasma and gallbladder bile samples were collected from 50 individuals. Bile acids in plasma did not differ based on the PPP1R3B rs4240624 genotype. However, the concentration of total bile acids (109±55 vs. 35±19mM; P=1.0×10−5) and all individual bile acids (also 7α-hydroxy-4-cholesten-3-one [C4]) measured from bile were significantly lower in those with the AG genotype compared to those with the AA genotype. In addition, total cholesterol (P=0.011) and phospholipid (P=0.001) levels were lower in individuals with the AG genotype, but cholesterol saturation index did not differ, indicating that the decrease in cholesterol and phospholipid levels was secondary to the change in bile acids. Liver RNA-seq data demonstrated that expression of PPP1R3B, tankyrase (TNKS), Homo sapiens chromosome 8 clone RP11-10A14.5 (AC022784.1 [LOC157273]), Homo sapiens chromosome 8 clone RP11-375N15.1 (AC021242.1), and Homo sapiens chromosome 8, clone RP11-10A14 (AC022784.6) associated with the PPP1R3B genotype. In addition, genes enriched in transmembrane transport and phospholipid binding pathways were associated with the genotype. Conclusion: The rs4240624 variant in PPP1R3B has a major effect on the composition of gallbladder bile. Other transcripts in the same loci may be important mediators of the variant effect.
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| 45. |
- Romm, H., et al.
(author)
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Web-based scoring of the dicentric assay, a collaborative biodosimetric scoring strategy for population triage in large scale radiation accidents
- 2014
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In: Radiation and Environmental Biophysics. - : Springer Science and Business Media LLC. - 0301-634X .- 1432-2099. ; 53:2, s. 241-254
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Journal article (peer-reviewed)abstract
- In the case of a large scale radiation accident high throughput methods of biological dosimetry for population triage are needed to identify individuals requiring clinical treatment. The dicentric assay performed in web-based scoring mode may be a very suitable technique. Within the MULTIBIODOSE EU FP7 project a network is being established of 8 laboratories with expertise in dose estimations based on the dicentric assay. Here, the manual dicentric assay was tested in a web-based scoring mode. More than 23,000 high resolution images of metaphase spreads (only first mitosis) were captured by four laboratories and established as image galleries on the internet (cloud). The galleries included images of a complete dose effect curve (0-5.0 Gy) and three types of irradiation scenarios simulating acute whole body, partial body and protracted exposure. The blood samples had been irradiated in vitro with gamma rays at the University of Ghent, Belgium. Two laboratories provided image galleries from Fluorescence plus Giemsa stained slides (3 h colcemid) and the image galleries from the other two laboratories contained images from Giemsa stained preparations (24 h colcemid). Each of the 8 participating laboratories analysed 3 dose points of the dose effect curve (scoring 100 cells for each point) and 3 unknown dose points (50 cells) for each of the 3 simulated irradiation scenarios. At first all analyses were performed in a QuickScan Mode without scoring individual chromosomes, followed by conventional scoring (only complete cells, 46 centromeres). The calibration curves obtained using these two scoring methods were very similar, with no significant difference in the linear-quadratic curve coefficients. Analysis of variance showed a significant effect of dose on the yield of dicentrics, but no significant effect of the laboratories, different methods of slide preparation or different incubation times used for colcemid. The results obtained to date within the MULTIBIODOSE project by a network of 8 collaborating laboratories throughout Europe are very promising. The dicentric assay in the web based scoring mode as a high throughput scoring strategy is a useful application for biodosimetry in the case of a large scale radiation accident.
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| 46. |
- Sehgal, R., et al.
(author)
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Indole-3-propionic acid, a gut-derived tryptophan metabolite, associates with hepatic fibrosis
- 2021
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In: Nutrients. - : MDPI AG. - 2072-6643. ; 13:10
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Journal article (peer-reviewed)abstract
- Background and Aims: Gut microbiota-derived metabolites play a vital role in maintenance of human health and progression of disorders, including obesity and type 2 diabetes (T2D). Indole-3-propionic acid (IPA), a gut-derived tryptophan metabolite, has been recently shown to be lower in individuals with obesity and T2D. IPA’s beneficial effect on liver health has been also explored in rodent and cell models. In this study, we investigated the association of IPA with human liver histology and transcriptomics, and the potential of IPA to reduce hepatic stellate cell activation in vitro. Methods: A total of 233 subjects (72% women; age 48.3 ± 9.3 years; BMI 43.1 ± 5.4 kg/m2) undergoing bariatric surgery with detailed liver histology were included. Circulating IPA levels were measured using LC-MS and liver transcriptomics with total RNA-sequencing. LX-2 cells were used to study hepatoprotective effect of IPA in cells activated by TGF-β1. Results: Circulating IPA levels were found to be lower in individuals with liver fibrosis compared to those without fibrosis (p = 0.039 for all participants; p = 0.013 for 153 individuals without T2D). Accordingly, levels of circulating IPA associated with expression of 278 liver transcripts (p < 0.01) that were enriched for the genes regulating hepatic stellate cells (HSCs) activation and hepatic fibrosis signaling. Our results suggest that IPA may have hepatoprotective potential because it is able to reduce cell adhesion, cell migration and mRNA gene expression of classical markers of HSCs activation in LX-2 cells (all p < 0.05). Conclusion: The association of circulating IPA with liver fibrosis and the ability of IPA to reduce activation of LX-2 cells suggests that IPA may have a therapeutic potential. Further molecular studies are needed to investigate the mechanisms how IPA can ameliorate hepatic fibrosis. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
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| 47. |
- Sgouros, D., et al.
(author)
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Dermatoscopic features of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm Breslow thickness) nodular melanoma and predictors of nodular melanoma versus nodular non-melanoma tumours: a multicentric collaborative study by the International Dermoscopy Society
- 2020
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In: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959 .- 1468-3083. ; 34:11, s. 2541-2547
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Journal article (peer-reviewed)abstract
- Background Thin nodular melanoma (NM) often lacks conspicuous melanoma-specific dermatoscopic criteria and escapes clinical detection until it progresses to a thicker and more advanced tumour. Objective To investigate the dermatoscopic morphology of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm) NM and to identify dermatoscopic predictors of its differential diagnosis from other nodular tumours. Methods Retrospective, morphological case-control study, conducted on behalf of the International Dermoscopy Society. Dermatoscopic images of NM and other nodular tumours from 19 skin cancer centres worldwide were collected and analysed. Results Overall, 254 tumours were collected (69 NM of Breslow thickness <= 2 mm, 96 NM >2 mm and 89 non-melanoma nodular lesions). Light brown coloration (50.7%) and irregular brown dots/globules (42.0%) were most frequently observed in <= 2 mm NMs. Multivariate analysis revealed that dotted vessels (3.4-fold), white shiny streaks (2.9-fold) and irregular blue structureless area (2.4-fold) were predictors for thinner NM compared to non-melanoma nodular tumours. Overall, irregular blue structureless area (3.4-fold), dotted vessels (4.6-fold) and serpentine vessels (1.9-fold) were predictors of all NM compared to non-melanoma nodular lesions. Limitations Absence of a centralized, consensus pathology review and cases selected form tertiary centres maybe not reflecting the broader community. Conclusions Our study sheds light into the dermatoscopic morphology of thin NM in comparison to thicker NM and could provide useful clues for its differential diagnosis from other non-melanoma nodular tumours.
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| 48. |
- Stepniak, Karolina, et al.
(author)
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Mapping chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas
- 2021
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In: Nature Communications. - : Springer Nature. - 2041-1723. ; 12:1
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Journal article (peer-reviewed)abstract
- Chromatin structure and accessibility, and combinatorial binding of transcription factors to regulatory elements in genomic DNA control transcription. Genetic variations in genes encoding histones, epigenetics-related enzymes or modifiers affect chromatin structure/dynamics and result in alterations in gene expression contributing to cancer development or progression. Gliomas are brain tumors frequently associated with epigenetics-related gene deregulation. We perform whole-genome mapping of chromatin accessibility, histone modifications, DNA methylation patterns and transcriptome analysis simultaneously in multiple tumor samples to unravel epigenetic dysfunctions driving gliomagenesis. Based on the results of the integrative analysis of the acquired profiles, we create an atlas of active enhancers and promoters in benign and malignant gliomas. We explore these elements and intersect with Hi-C data to uncover molecular mechanisms instructing gene expression in gliomas. Gliomas are tumors often associated with epigenetics-related gene deregulation. Here the authors reveal an atlas of active enhancers and promoters in benign and malignant gliomas by performing whole-genome mapping of chromatin accessibility, histone modifications, DNA methylation patterns and transcriptome analysis simultaneously in multiple tumor samples.
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| 49. |
- Stockett, Mark H., et al.
(author)
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Radiative cooling of carbon cluster anions C-2n+1(-) (n=3-5)
- 2020
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In: European Physical Journal D. - : Springer Science and Business Media LLC. - 1434-6060 .- 1434-6079. ; 74:7
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Journal article (peer-reviewed)abstract
- Radiative cooling of carbon cluster anions C-2n+1(-)(n = 3-5) is investigated using the cryogenic electrostatic ion storage ring DESIREE. Two different strategies are applied to infer infrared emission on slow (milliseconds to seconds) and ultraslow (seconds to minutes) timescales. Initial cooling of the ions over the millisecond timescale is probed indirectly by monitoring the decay in the yield of spontaneous neutralization by thermionic emission. The observed cooling rates are consistent with a statistical model of thermionic electron emission in competition with infrared photon emission due to vibrational de-excitation. Slower cooling over the seconds to minutes timescale associated with infrared emission from low-frequency vibrational modes is probed using time-dependent action spectroscopy. For C(9)(-)and C-11(-), cooling is evidenced by the time-evolution of the yield of photo-induced neutralization following resonant excitation of electronic transitions near the detachment threshold. The cross-section for resonant photo-excitation is at least two orders of magnitude greater than for direct photodetachment. In contrast, C(7)(-)lacks electronic transitions near the detachment threshold.
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| 50. |
- Stockett, M.H., et al.
(author)
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Spontaneous decay of small copper cluster anions, Cu_N^-, N = 3 - 6
- 2015
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In: Journal of Physics, Conference Series. - 1742-6588 .- 1742-6596. ; 635
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Journal article (other academic/artistic)abstract
- We have measured the spontaneous neutral particle emission from beams of copper cluster anions (Cu_N, N = 3 to 6) stored in an electrostatic storage ring. These experiments have show that multiple structural isomers may be present in the beam.
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