| 1. |
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| 2. |
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| 3. |
- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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| 9. |
- Pilla, Rachel M., et al.
(författare)
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Global data set of long-term summertime vertical temperature profiles in 153 lakes
- 2021
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Ingår i: Scientific Data. - : Springer Nature. - 2052-4463. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Climate change and other anthropogenic stressors have led to long-term changes in the thermal structure, including surface temperatures, deepwater temperatures, and vertical thermal gradients, in many lakes around the world. Though many studies highlight warming of surface water temperatures in lakes worldwide, less is known about long-term trends in full vertical thermal structure and deepwater temperatures, which have been changing less consistently in both direction and magnitude. Here, we present a globally-expansive data set of summertime in-situ vertical temperature profiles from 153 lakes, with one time series beginning as early as 1894. We also compiled lake geographic, morphometric, and water quality variables that can influence vertical thermal structure through a variety of potential mechanisms in these lakes. These long-term time series of vertical temperature profiles and corresponding lake characteristics serve as valuable data to help understand changes and drivers of lake thermal structure in a time of rapid global and ecological change.
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| 10. |
- Anney, R. J. L., et al.
(författare)
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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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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)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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| 11. |
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| 12. |
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| 13. |
- Weiner, D. J., et al.
(författare)
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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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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)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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| 14. |
- Pilla, Rachel M., et al.
(författare)
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Deeper waters are changing less consistently than surface waters in a global analysis of 102 lakes
- 2020
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Globally, lake surface water temperatures have warmed rapidly relative to air temperatures, but changes in deepwater temperatures and vertical thermal structure are still largely unknown. We have compiled the most comprehensive data set to date of long-term (1970–2009) summertime vertical temperature profiles in lakes across the world to examine trends and drivers of whole-lake vertical thermal structure. We found significant increases in surface water temperatures across lakes at an average rate of + 0.37 °C decade−1, comparable to changes reported previously for other lakes, and similarly consistent trends of increasing water column stability (+ 0.08 kg m−3 decade−1). In contrast, however, deepwater temperature trends showed little change on average (+ 0.06 °C decade−1), but had high variability across lakes, with trends in individual lakes ranging from − 0.68 °C decade−1 to + 0.65 °C decade−1. The variability in deepwater temperature trends was not explained by trends in either surface water temperatures or thermal stability within lakes, and only 8.4% was explained by lake thermal region or local lake characteristics in a random forest analysis. These findings suggest that external drivers beyond our tested lake characteristics are important in explaining long-term trends in thermal structure, such as local to regional climate patterns or additional external anthropogenic influences.
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| 15. |
- Wang, ZC, et al.
(författare)
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Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd
- 2016
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7, s. 12846-
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Tidskriftsartikel (refereegranskat)abstract
- Gene expression data are accumulating exponentially in public repositories. Reanalysis and integration of themed collections from these studies may provide new insights, but requires further human curation. Here we report a crowdsourcing project to annotate and reanalyse a large number of gene expression profiles from Gene Expression Omnibus (GEO). Through a massive open online course on Coursera, over 70 participants from over 25 countries identify and annotate 2,460 single-gene perturbation signatures, 839 disease versus normal signatures, and 906 drug perturbation signatures. All these signatures are unique and are manually validated for quality. Global analysis of these signatures confirms known associations and identifies novel associations between genes, diseases and drugs. The manually curated signatures are used as a training set to develop classifiers for extracting similar signatures from the entire GEO repository. We develop a web portal to serve these signatures for query, download and visualization.
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| 16. |
- Zhang, X. S., et al.
(författare)
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Maternal cecal microbiota transfer rescues early-life antibiotic-induced enhancement of type 1 diabetes in mice
- 2021
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Ingår i: Cell Host & Microbe. - : Elsevier BV. - 1931-3128. ; 29:8
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Tidskriftsartikel (refereegranskat)abstract
- Early-life antibiotic exposure perturbs the intestinal microbiota and accelerates type 1 diabetes (T1D) development in the NOD mouse model. Here, we found that maternal cecal m icrobiota transfer (CMT) to NOD mice after early-life antibiotic perturbation largely rescued the induced T1D enhancement. Restoration of the intestinal microbiome was significant and persistent, remediating the antibiotic-depleted diversity, relative abundance of particular taxa, and metabolic pathways. CMT also protected against perturbed metabolites and normalized innate and adaptive immune effectors. CMT restored major patterns of ileal microRNA and histone regulation of gene expression. Further experiments suggest a gut-microbiota-regulated T1D protection mechanism centered on Reg3 gamma, in an innate intestinal immune network involving CD44, TLR2, and Reg3 gamma. This regulation affects downstream immunological tone, which may lead to protection against tissue-specific T1D injury.
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| 17. |
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| 18. |
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| 19. |
- Ideguchi, E., et al.
(författare)
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Orbifold projection in supersymmetric QCD at N(f) ≤ N(c)
- 2000
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 492:3-4, s. 369-375
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Tidskriftsartikel (refereegranskat)abstract
- Supersymmetric orbifold projection of N = 1 SQCD with relatively small number of flavors (N(f) ≤ N(c)) is considered. The purpose is to check whether orbifolding commutes with the infrared limit. On the one hand, one considers the orbifold projection of SQCD and obtains the low-energy description of the resulting theory. On the other hand, one starts with the low-energy effective theory of the original SQCD, and only then performs orbifolding. It is shown that at finite N(c) the two low-energy theories obtained in these ways are different. However, in the case of stabilized run-away vacuum these two theories are shown to coincide in the large N(c) limit. In the case of quantum modified moduli space, topological solitons carrying baryonic charges are present in the orbifolded low-energy theory. These solitons may restore the correspondence between the two theories provided that the soliton mass tends to zero in the large N(c) limit. (C) 2000 Elsevier Science B.V.
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| 20. |
- Ideguchi, E., et al.
(författare)
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Superdeformation in the Doubly Magic Nucleus 40Ca
- 2001
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Ingår i: Physical Review Letters. - 1079-7114. ; 87:22
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Tidskriftsartikel (refereegranskat)abstract
- A rotational band with seven gamma -ray transitions between states with spin 2 (h) over bar and 16 (h) over bar has been observed in the doubly magic, self-conjugate nucleus Ca-40(20)20. The measured transition quadrupole moment of 1.80(-0.29)(+0.39)eb indicates a superdeformed shape with a deformation beta (2) = 0.59(-0.07)(+0.11). The features of this band are explained by cranked relativistic mean field calculations to arise from an 8-particle 8-hole excitation.
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| 21. |
- Sadlej, J., et al.
(författare)
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Properties and Spectroscopies
- 2007
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Ingår i: Continuum Solvation Models in Chemical Physics: From Theory to Applications. - Chichester, UK : John Wiley & Sons. - 9780470029381 ; , s. 125-312
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Bokkapitel (refereegranskat)
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| 22. |
- Sarantites, D. G., et al.
(författare)
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Triaxial superdeformed bands in [Formula Presented]
- 1998
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 57:1, s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- Four new superdeformed bands have been found in the nucleus [Formula Presented]. The good agreement between experiment and configuration-dependent shell correction calculations suggests that three of the bands have triaxial superdeformed shapes. Such unique features in mass [Formula Presented] superdeformed bands have been predicted, but not observed experimentally until now. A fourth band in [Formula Presented] is interesting due to a fairly constant and unusually high dynamic moment of inertia. Possible interpretations of this structure are discussed.
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| 23. |
- Svensson, C. E., et al.
(författare)
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Decay Out of the Doubly Magic Superdeformed Band in the N=Z Nucleus 60Zn
- 1999
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Ingår i: Physical Review Letters. - 1079-7114. ; 82:17, s. 3400-3403
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Tidskriftsartikel (refereegranskat)abstract
- The doubly magic superdeformed band in the N = Z nucleus Zn-60 has been identified. Linking transitions connecting this band to the yrast line provide the first spin, parity, and excitation energy measurements for superdeformed states in the A similar to 60 region. The stretched-E2 character and relatively large B(E2) values of these transitions suggest a nonstatistical decay-out process.
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| 24. |
- Svensson, C. E., et al.
(författare)
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Smooth Termination of Rotational Bands in 62Zn: Evidence for a Loss of Collectivity
- 1998
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Ingår i: Physical Review Letters. - 1079-7114. ; 80:12, s. 2558-2561
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Tidskriftsartikel (refereegranskat)abstract
- Two sets of strongly coupled rotational bands have been identified in Zn-62. These bands have been observed up to the terminating states of their respective configurations. Lifetime measurements indicate that the transition quadrupole moments in these bands decrease as termination is approached. These results establish the first terminating states of rotational bands in the A similar to 60 mass region and confirm the predicted loss of collectivity associated with smooth band termination.
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| 25. |
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| 26. |
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| 27. |
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| 28. |
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| 29. |
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| 30. |
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| 31. |
- Chiara, C. J., et al.
(författare)
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Probing sd-fp Cross-shell Interactions via Terminating Configurations in 42Sc,43Sc
- 2007
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:5
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Tidskriftsartikel (refereegranskat)abstract
- An experimental study of the lower fp-shell nuclei Sc-42,Sc-43 was performed via alpha pn and alpha p evaporation, respectively, from Ne-20 + Si-28 and Mg-24 + Mg-24 fusion-evaporation reactions. The experiments were conducted with the Gammasphere and Microball detector arrays. The level schemes of both nuclei have been extended considerably. Terminating states associated with the f(7/2)(n) and d(3/2)(-1)f(7/2)(n+1) configurations were identified in each nuclide and incorporated into detailed comparisons with neighboring nuclei and with shell model calculations. The energy differences between the terminating states provide a test of the sd-fp cross-shell interactions in these calculations.
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| 32. |
- Devlin, M., et al.
(författare)
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Superdeformation in 68Zn: Evidence for a New, Neutron-rich Island of Superdeformation in A~70 Nuclei
- 1999
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Ingår i: Physical Review Letters. - 1079-7114. ; 82, s. 5217-5220
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Tidskriftsartikel (refereegranskat)abstract
- A superdeformed rotational structure is reported in the stable nucleus Zn-68. It has a transition quadrupole moment (Q(t)) of 2.5(-0.4)(+0.7) e b (beta(2) approximate to 0.4), as measured by the residual Doppler shift method. Theoretical calculations suggest that two different configurations are possible candidates for this band. One is built without h(11/2) neutrons, as seen in superdeformed bands in the A similar to 60 region, while the other involves one h(11/2) neutron in analogy with superdeformed bands in the A similar to 80 region. The second of these candidate configurations is preferred, thus establishing a new, neutron-rich (relative to the line of beta stability) region of superdeformation with Z similar to 30 and N similar to 38.
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| 33. |
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| 34. |
- Evans, AO, et al.
(författare)
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Magnetic properties of smooth terminating dipole bands in Te-110,Te-112
- 2006
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 636:1, s. 25-30
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Tidskriftsartikel (refereegranskat)abstract
- Three strongly coupled sequences have been established in Te-110,Te-112 up to high spins. They are interpreted in terms of deformed structures built on proton 1-particle-1-hole excitations that reach termination at I similar to 40h. This is the first observation of smooth terminating dipole structures in this mass region. Lifetime measurements have allowed the extraction of experimental B(M 1; 1 -> I - 1) and B(E2; I -> I - 2) reduced transition rates for one of the dipole bands in Te-110. The results support the deformed interpretation. (c) 2006 Elsevier B.V. All rights reserved.
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| 35. |
- Evans, A. O., et al.
(författare)
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Magnetic properties of deformed dipole bands in Te-110,Te-112
- 2006
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Ingår i: Physica Scripta. - 0031-8949. ; T125, s. 192-193
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Tidskriftsartikel (refereegranskat)abstract
- A lifetime analysis using the Doppler-shift attenuation method has been performed on the Tellurium isotopes Te-110,Te-112. The experiment was performed using the Gammasphere array in conjunction with the MICROBALL charged-particle detector. Three strongly coupled bands were previously established in Te-110,Te-112 which were observed up to unusually high spins. In the current experiment, it has been possible to extract lifetime measurements using a Doppler broadened lineshape analysis on one of the Delta I = 1 band structures in Te-110. In contrast to similar Delta I = 1 structures in other nuclei in this mass region, the extracted B(M1) values did not rapidly decrease with increasing angular momentum. Instead, the strongly coupled band in Te-110 represents a deformed 1p-1h structure, rather than a weakly deformed structure showing the shears mechanism.
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| 36. |
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| 37. |
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| 38. |
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| 39. |
- Ideguchi, Eiji, et al.
(författare)
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Superdeformation in 91Tc
- 2000
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Ingår i: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 492:3-4, s. 245-253
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Tidskriftsartikel (refereegranskat)abstract
- A high-spin rotational band with 11 gamma -ray transitions has barn observed in Tc-91. The dynamical moment of inertia as well as the transition quadrupole moment of 8.1(-1.4)(+1.9) eb measured for this band show the characteristics of a superdeformed band. However, the shape is more elongated than in the neighbouring A = 80-90 superdeformed nuclei. Theoretical interpretations of the band within the cranked Strutinsky approach based on two different Woods-Saxon potential parameterisations are presented. Even though an unambiguous configuration assignment proved difficult, both calculations indicate a larger deformation and at least three additional high-N intruder orbitals occupied compared to the lighter SD nuclei. (C) 2000 Elsevier Science B.V. All rights reserved.
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| 40. |
- Kelleher, I, et al.
(författare)
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Clinicopathological significance of psychotic experiences in non-psychotic young people: evidence from four population-based studies
- 2012
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Ingår i: The British journal of psychiatry : the journal of mental science. - : Royal College of Psychiatrists. - 1472-1465. ; 201:1, s. 26-32
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Tidskriftsartikel (refereegranskat)abstract
- Epidemiological research has shown that hallucinations and delusions, the classic symptoms of psychosis, are far more prevalent in the population than actual psychotic disorder. These symptoms are especially prevalent in childhood and adolescence. Longitudinal research has demonstrated that psychotic symptoms in adolescence increase the risk of psychotic disorder in adulthood. There has been a lack of research, however, on the immediate clinicopathological significance of psychotic symptoms in adolescence.AimsTo investigate the relationship between psychotic symptoms and non-psychotic psychopathology in community samples of adolescents in terms of prevalence, co-occurring disorders, comorbid (multiple) psychopathology and variation across early v. middle adolescence.MethodData from four population studies were used: two early adolescence studies (ages 11–13 years) and two mid-adolescence studies (ages 13–16 years). Studies 1 and 2 involved school-based surveys of 2243 children aged 11–16 years for psychotic symptoms and for emotional and behavioural symptoms of psychopathology. Studies 3 and 4 involved in-depth diagnostic interview assessments of psychotic symptoms and lifetime psychiatric disorders in community samples of 423 children aged 11–15 years.ResultsYounger adolescents had a higher prevalence (21–23%) of psychotic symptoms than older adolescents (7%). In both age groups the majority of adolescents who reported psychotic symptoms had at least one diagnosable non-psychotic psychiatric disorder, although associations with psychopathology increased with age: nearly 80% of the mid-adolescence sample who reported psychotic symptoms had at least one diagnosis, compared with 57% of the early adolescence sample. Adolescents who reported psychotic symptoms were at particularly high risk of having multiple co-occurring diagnoses.ConclusionsPsychotic symptoms are important risk markers for a wide range of non-psychotic psychopathological disorders, in particular for severe psychopathology characterised by multiple co-occurring diagnoses. These symptoms should be carefully assessed in all patients.
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| 41. |
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| 42. |
- LaFosse, D. R., et al.
(författare)
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Collective structures and band termination in 107Sb
- 2000
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 62:1
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in the near proton-dripline nucleus 107Sb have been identified, and collectivity in this nucleus has been observed for the first time in the form of two rotational bands. One of the observed rotational structures is a ΔI = 1 band, and is interpreted as based on a π(g9/2)-1 ⊗ π(g7/2d5/2)2 proton configuration. A second structure has ΔI = 2 character, and is explained as being based on a πh11/2⊗[π(g9/2)-2 ⊗ π(g7/2d5/2)2] proton configuration through comparison with cranked Nilsson-Strutinsky model calculations. The calculations predict that this band terminates at a spin of 79/2 (Latin small letter h with stroke).
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| 43. |
- Paul, E. S., et al.
(författare)
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Smooth terminating bands in Te-112: Particle-hole induced collectivity
- 2007
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:1
-
Tidskriftsartikel (refereegranskat)abstract
- The Gammasphere spectrometer, in conjunction with the Microball charged-particle array, was used to investigate high-spin states in Te-112 via Ni-58(Ni-58, 4p gamma) reactions at 240 and 250 MeV. Several smooth terminating bands were established, and lifetime measurements were performed for the strongest one using the Doppler-shift attenuation method. Results obtained in the spin range 18-32h yield a transition quadrupole moment of 4.0 +/- 0.5eb, which corresponds to a quadrupole deformation epsilon(2)=0.26 +/- 0.03; this value is significantly larger than the ground-state deformation of tellurium isotopes. It was also possible to extract a transition quadrupole moment for the yrast band in Xe-114, produced via the 58Ni (58Ni, 2p gamma) reaction. A value of 3.0 +/- 0.5eb was found in the spin range 16-24h, which corresponds to a quadrupole deformation epsilon(2)=0.19 +/- 0.03. Cranked Nilsson-Strutinsky calculations are used to interpret the results.
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| 44. |
- Pfohl, J., et al.
(författare)
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Highly deformed rotational structures in 136Pm
- 2000
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Ingår i: Physical Review C - Nuclear Physics. - 0556-2813. ; 62:3, s. 313041-313045
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Tidskriftsartikel (refereegranskat)abstract
- Four highly deformed structures in the odd-odd nucleus 13661Pm75 were observed via the 105Pd(35Cl,2p2n) reaction at 180 and 173 MeV using the GAMMASPHERE γ-ray spectrometer and the Microball charged-particle detector array. Quadrupole moment measurements were performed on all of the bands. In contrast to lighter odd-Ζ Pm and Pr nuclei, bands based on the g9/2[404]9/2 proton orbital were not observed. Instead, the four observed sequences are assigned as a coupling of an i13/2 neutron with the low-Ω h11/2 and mixed d5/2g7/2 orbitals. Comparisons with neighboring highly deformed structures are discussed and cranked Nilsson-Strutinsky calculations for 136Pm are presented.
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| 45. |
- Pinto, Dalila, et al.
(författare)
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.
- 2014
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Ingår i: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 94:5, s. 677-694
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Tidskriftsartikel (refereegranskat)abstract
- Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0× 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7× 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
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| 46. |
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| 47. |
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| 48. |
- Schneider, K. M., et al.
(författare)
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Gut microbiota depletion exacerbates cholestatic liver injury via loss of FXR signalling
- 2021
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Ingår i: Nature Metabolism. - : Springer Science and Business Media LLC. - 2522-5812. ; 3:9, s. 1228-1241
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Tidskriftsartikel (refereegranskat)abstract
- Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown aetiology for which there are no approved therapeutic options. Patients with PSC display changes in gut microbiota and in bile acid (BA) composition; however, the contribution of these alterations to disease pathogenesis remains controversial. Here we identify a role for microbiota-dependent changes in BA synthesis that modulates PSC pathophysiology. In a genetic mouse model of PSC, we show that loss of microbiota-mediated negative feedback control of BA synthesis results in increased hepatic BA concentrations, disruption of bile duct barrier function and, consequently, fatal liver injury. We further show that these changes are dependent on decreased BA signalling to the farnesoid X receptor, which modulates the activity of the rate-limiting enzyme in BA synthesis, CYP7A1. Moreover, patients with advanced stages of PSC show suppressed BA synthesis as measured by serum C4 levels, which is associated with poor disease prognosis. Our preclinical data highlight the microbiota-dependent dynamics of BA metabolism in cholestatic liver disease, which could be important for future therapies targeting BA and gut microbiome interactions, and identify C4 as a potential biomarker to functionally stratify patients with PSC and predict disease outcomes. Patients with primary sclerosing cholangitis (PSC), a chronic cholestatic liver disease, display changes in the gut microbiota and in bile acid composition. Schneider, Candels and colleagues identify a role for microbiota-dependent regulation of bile acid synthesis through farnesoid X receptor signalling, which is relevant for PSC disease progression.
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| 49. |
- Smith, J. F., et al.
(författare)
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Excited states and signature inversion in Cs-116
- 2006
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Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 74:3, s. 034310-
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Tidskriftsartikel (refereegranskat)abstract
- Excited states have been observed for the first time in the very neutron-deficient, odd-odd nucleus, Cs-116(55)61. The assignment to Cs-116 has been made by the detection of gamma rays in coincidence with evaporated charged particles and with evaporation residues. The observed states form a rotational band which has been assigned to the nu(h(11/2)) circle times pi(h(11/2)) configuration. Tentative spin assignments have been made on the basis of systematic comparisons with neighboring cesium isotopes. A low-spin signature inversion is observed in the band at a rotational frequency of about 0.23 MeV/h. The observed signature inversions in the odd-odd Cs116-126 isotopes have been compared with the results of extended total Routhian surface calculations, in which signature inversion arises as a consequence of quadrupole-pairing correlations and triaxial deformation. As previously shown for some of the odd-odd A similar or equal to 120 isotopes, the calculations reproduce the signature inversions reasonably well.
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- Sun, H., et al.
(författare)
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New Band Structures and an Unpaired Crossing in 78Kr
- 1999
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 59:2, s. 655-664
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in Kr-78 were studied using the Ni-58(Na-23,3p) reaction at 70 MeV and the Ni-58(Si-23,alpha 4p) reaction at 130 MeV. Prompt gamma-gamma coincidences were measured using the Pitt-FSU detector array and the GAMMASPHERE-MICROBALL array. Results from these experiments have led to 26 new excitation levels, some of which have been grouped into 3 new bands. Spins were assigned based on directional correlations of oriented nuclei. Two of the new negative-parity bands appear to form a signature-partner pair based on a two-quasineutron structure, in contrast to the previously known two-quasiproton negative-parity bands. A forking has been observed at the 24(+) state in the yrast band, which calculations suggest may result from an unpaired crossing. The available evidence suggests oblate shapes in the yrast band coexist with prolate shapes in the negative-parity bands. [S0556-2813(99)04602-6].
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