| 1. |
- Tabiri, S, et al.
(författare)
-
- 2021
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swepub:Mat__t
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| 2. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
-
Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 5. |
- Kelly, J. J., et al.
(författare)
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Recoil polarization measurements for neutral pion electroproduction at Q(2)=1(GeV/c)(2) near the Delta resonance
- 2007
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 75:2
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Tidskriftsartikel (refereegranskat)abstract
- We measured angular distributions of differential cross section, beam analyzing power, and recoil polarization for neutral pion electroproduction at Q(2)=1.0 (GeV/c)(2) in 10 bins of 1.17 <= W <= 1.35 GeV across the Delta resonance. A total of 16 independent response functions were extracted, of which 12 were observed for the first time. Comparisons with recent model calculations show that response functions governed by real parts of interference products are determined relatively well near the physical mass, W=M-Delta approximate to 1.232 GeV, but the variation among models is large for response functions governed by imaginary parts, and for both types of response functions, the variation increases rapidly with W > M-Delta. We performed a multipole analysis that adjusts suitable subsets of center dot(pi)<= 2 amplitudes with higher partial waves constrained by baseline models. This analysis provides both real and imaginary parts. The fitted multipole amplitudes are nearly model independent-there is very little sensitivity to the choice of baseline model or truncation scheme. By contrast, truncation errors in the traditional Legendre analysis of N ->Delta quadrupole ratios are not negligible. Parabolic fits to the W dependence around M-Delta for the multiple analysis gives values for Re(S1+/M1+)=(-6.61 +/- 0.18)% and Re(E1+/M1+)=(-2.87 +/- 0.19)% for the p pi(0) channel at W=1.232 GeV and Q(2)=1.0 (GeV/c)(2) that are distinctly larger than those from the Legendre analysis of the same data. Similarly, the multipole analysis gives Re(S0+/M1+)=(+7.1 +/- 0.8)% at W=1.232 GeV, consistent with recent models, while the traditional Legendre analysis gives the opposite sign because its truncation errors are quite severe.
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| 6. |
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| 7. |
- Alcorn, J, et al.
(författare)
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Basic instrumentation for Hall A at Jefferson Lab
- 2004
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 522:3, s. 294-346
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Tidskriftsartikel (refereegranskat)abstract
- The instrumentation in Hall A at the Thomas Jefferson National Accelerator Facility was designed to study electro-and photo-induced reactions at very high luminosity and good momentum and angular resolution for at least one of the reaction products. The central components of Hall A are two identical high resolution spectrometers, which allow the vertical drift chambers in the focal plane to provide a momentum resolution of better than 2 x 10(-4). A variety of Cherenkov counters, scintillators and lead-glass calorimeters provide excellent particle identification. The facility has been operated successfully at a luminosity well in excess of 10(38) CM-2 s(-1). The research program is aimed at a variety of subjects, including nucleon structure functions, nucleon form factors and properties of the nuclear medium. (C) 2003 Elsevier B.V. All rights reserved.
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| 8. |
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| 9. |
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| 10. |
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| 11. |
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| 12. |
- Widemann, Thomas, et al.
(författare)
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Venus Evolution Through Time : Key Science Questions, Selected Mission Concepts and Future Investigations
- 2023
-
Ingår i: Space Science Reviews. - : SPRINGER. - 0038-6308 .- 1572-9672. ; 219:7
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Forskningsöversikt (refereegranskat)abstract
- In this work we discuss various selected mission concepts addressing Venus evolution through time. More specifically, we address investigations and payload instrument concepts supporting scientific goals and open questions presented in the companion articles of this volume. Also included are their related investigations (observations & modeling) and discussion of which measurements and future data products are needed to better constrain Venus' atmosphere, climate, surface, interior and habitability evolution through time. A new fleet of Venus missions has been selected, and new mission concepts will continue to be considered for future selections. Missions under development include radar-equipped ESA-led EnVision M5 orbiter mission (European Space Agency 2021), NASA-JPL's VERITAS orbiter mission (Smrekar et al. 2022a), NASA-GSFC's DAVINCI entry probe/flyby mission (Garvin et al. 2022a). The data acquired with the VERITAS, DAVINCI, and EnVision from the end of this decade will fundamentally improve our understanding of the planet's long term history, current activity and evolutionary path. We further describe future mission concepts and measurements beyond the current framework of selected missions, as well as the synergies between these mission concepts, ground-based and space-based observatories and facilities, laboratory measurements, and future algorithmic or modeling activities that pave the way for the development of a Venus program that extends into the 2040s (Wilson et al. 2022).
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| 13. |
- Ashwin, M.J., et al.
(författare)
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The bonding of CAs acceptors in InxGa1-xAs grown by chemical beam epitaxy using carbon tetrabromide as the source of carbon
- 1996
-
Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 80:12, s. 6754-6760
-
Tidskriftsartikel (refereegranskat)abstract
- InxGa1-xAs layers (0≤x≤0.37) doped with carbon (>1020 cm-3) were grown on semi-insulating GaAs substrates by chemical beam epitaxy using carbon tetrabromide (CBr4) as the dopant source. Hall measurements imply that all of the carbon was present as CAs for values x up to 0.15. The C acceptors were passivated by exposing samples to a radio frequency hydrogen plasma for periods of up to 6 h. The nearest-neighbor bonding configurations of CAs were investigated by studying the nondegenerate antisymmetric hydrogen stretch mode (A-1 symmetry) and the symmetric XH mode (A+1 symmetry) of the H-CAs pairs using IR absorption and Raman scattering, respectively. Observed modes at 2635 and 450 cm-1 had been assigned to passivated Ga4CAs clusters. New modes at 2550 and 430 cm-1 increased in strength with increasing values of x and are assigned to passivated InGa3CAs clusters. These results were compared with ab initio local density functional theory. Modes due to AlInGaCAs clusters were detected in samples containing grown in Al and In. These results demonstrate that for InGaAs, CBr4 is an efficient C doping source since both In-CAs bonds as well as Ga-CAs bonds are formed, whereas there is no evidence for the formation of In-CAs bonds in samples doped with C derived from trimethylgallium or solid sources
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| 14. |
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| 15. |
- Depledge, D. P., et al.
(författare)
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High Viral Diversity and Mixed Infections in Cerebral Spinal Fluid from Cases of Varicella Zoster Virus Encephalitis
- 2018
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Ingår i: Journal of Infectious Diseases. - : Oxford University Press (OUP). - 0022-1899 .- 1537-6613. ; 218:10, s. 1592-1601
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Tidskriftsartikel (refereegranskat)abstract
- Background. Varicella zoster virus (VZV) may cause encephalitis, both with and without rash. Here we investigate whether viruses recovered from the central nervous system (CNS; encephalitis or meningitis) differ genetically from those recovered from non-CNS samples. Methods. Enrichment-based deep sequencing of 45 VZV genomes from cerebral spinal fluid (CSF), plasma, bronchoalveolar lavage (BAL), and vesicles was carried out with samples collected from 34 patients with and without VZV infection of the CNS. Results. Viral sequences from multiple sites in the same patient were identical at the consensus level. Virus from vesicle fluid and CSF in cases of meningitis showed low-level diversity. By contrast, plasma, BAL, and encephalitis had higher numbers of variant alleles. Two CSF-encephalitis samples had high genetic diversity, with variant frequency patterns typical of mixed infections with different clades. Conclusions. Low viral genetic diversity in vesicle fluid is compatible with previous observations that VZV skin lesions arise from single or low numbers of virions. A similar result was observed in VZV from cases of VZV meningitis, a generally self-limiting infection. CSF from cases of encephalitis had higher diversity with evidence for mixed clade infections in 2 cases. We hypothesize that reactivation from multiple neurons may contribute to the pathogenesis of VZV encephalitis.
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| 16. |
- Forzati, Marco, et al.
(författare)
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Next-generation optical access seamless evolution : Concluding results of the European FP7 Project OASE
- 2015
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Ingår i: Journal of Optical Communications and Networking. - : Institute of Electrical and Electronics Engineers Inc.. - 1943-0620 .- 1943-0639. ; 7:2, s. 109-123
-
Tidskriftsartikel (refereegranskat)abstract
- Increasing bandwidth demand drives the need for next-generation optical access (NGOA) networks that can meet future end-user service requirements. This paper gives an overview of NGOA solutions, the enabling optical access network technologies, architecture principles, and related economics and business models. NGOA requirements (including peak and sustainable data rate, reach, cost, node consolidation, and open access) are proposed, and the different solutions are compared against such requirements in different scenarios (in terms of population density and system migration). Unsurprisingly, it is found that different solutions are best suited for different scenarios. The conclusions drawn from such findings allow us to formulate recommendations in terms of technology, strategy, and policy. The paper is based on the main results of the European FP7 OASE Integrated Project that ran between January 1, 2010 and February 28, 2013.
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| 17. |
- Gaccioli, Francesca, et al.
(författare)
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Fetal inheritance of chromosomally integrated human herpesvirus 6 predisposes the mother to pre-eclampsia
- 2020
-
Ingår i: Nature Microbiology. - : Springer Nature. - 2058-5276. ; 5:7, s. 901-908
-
Tidskriftsartikel (refereegranskat)abstract
- Pre-eclampsia (typically characterized by new-onset hypertension and proteinuria in the second half of pregnancy) represents a major determinant of the global burden of disease1,2. Its pathophysiology involves placental dysfunction, but the mechanism is unclear. Viral infection can cause organ dysfunction, but its role in placentally related disorders of human pregnancy is unknown3. We addressed this using RNA sequencing metagenomics4-6 of placental samples from normal and complicated pregnancies. Here, we show that human herpesvirus 6 (HHV-6, A or B) RNA was detected in 6.1% of cases of pre-eclampsia and 2.2% of other pregnancies. Fetal genotyping demonstrated that 70% of samples with HHV-6 RNA in the placenta exhibited inherited, chromosomally integrated HHV-6 (iciHHV-6). We genotyped 467 pre-eclampsia cases and 3,854 controls and found an excess of iciHHV-6 in the cases (odds ratio of 2.8, 95% confidence intervals of 1.4-5.6, P = 0.008). We validated this finding by comparing iciHHV-6 in a further 740 cases with controls from large-scale population studies (odds ratio of 2.5, 95% confidence intervals of 1.4-4.4, P = 0.0013). We conclude that iciHHV-6 results in the transcription of viral RNA in the human placenta and predisposes the mother to pre-eclampsia.
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| 18. |
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| 19. |
- Lammer, H., et al.
(författare)
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Geophysical and Atmospheric Evolution of Habitable Planets
- 2010
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Ingår i: Astrobiology. - : Mary Ann Liebert Inc. - 1531-1074 .- 1557-8070. ; 10:1, s. 45-68
-
Tidskriftsartikel (refereegranskat)abstract
- The evolution of Earth-like habitable planets is a complex process that depends on the geodynamical and geophysical environments. In particular, it is necessary that plate tectonics remain active over billions of years. These geophysically active environments are strongly coupled to a planet's host star parameters, such as mass, luminosity and activity, orbit location of the habitable zone, and the planet's initial water inventory. Depending on the host star's radiation and particle flux evolution, the composition in the thermosphere, and the availability of an active magnetic dynamo, the atmospheres of Earth-like planets within their habitable zones are differently affected due to thermal and nonthermal escape processes. For some planets, strong atmospheric escape could even effect the stability of the atmosphere.
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| 20. |
- Norberg, Peter, 1974, et al.
(författare)
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Recombination of Globally Circulating Varicella-Zoster Virus
- 2015
-
Ingår i: Journal of Virology. - : American Society for Microbiology. - 0022-538X .- 1098-5514. ; 89:14, s. 7133-7146
-
Tidskriftsartikel (refereegranskat)abstract
- Varicella-zoster virus (VZV) is a human herpesvirus, which during primary infection typically causes varicella (chicken pox) and establishes lifelong latency in sensory and autonomic ganglia. Later in life, the virus may reactivate to cause herpes zoster (HZ; also known as shingles). To prevent these diseases, a live-attenuated heterogeneous vaccine preparation, vOka, is used routinely in many countries worldwide. Recent studies of another alphaherpesvirus, infectious laryngotracheitis virus, demonstrate that live-attenuated vaccine strains can recombine in vivo, creating virulent progeny. These findings raised concerns about using attenuated herpesvirus vaccines under conditions that favor recombination. To investigate whether VZV may undergo recombination, which is a prerequisite for VZV vaccination to create such conditions, we here analyzed 115 complete VZV genomes. Our results demonstrate that recombination occurs frequently for VZV. It thus seems that VZV is fully capable of recombination if given the opportunity, which may have important implications for continued VZV vaccination. Although no interclade vaccine-wild-type recombinant strains were found, intraclade recombinants were frequently detected in clade 2, which harbors the vaccine strains, suggesting that the vaccine strains have already been involved in recombination events, either in vivo or in vitro during passages in cell culture. Finally, previous partial and complete genomic studies have described strains that do not cluster phylogenetically to any of the five established clades. The additional VZV strains sequenced here, in combination with those previously published, have enabled us to formally define a novel sixth VZV clade. Although genetic recombination has been demonstrated to frequently occur for other human alphaherpesviruses, herpes simplex viruses 1 and 2, only a few ancient and isolated recent recombination events have hitherto been demonstrated for VZV. In the present study, we demonstrate that VZV also frequently undergoes genetic recombination, including strains belonging to the clade containing the vOKA strain.
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| 21. |
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| 22. |
- Aswad, Amr, et al.
(författare)
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Evolutionary history of endogenous Human Herpesvirus 6 reflects human migration out of Africa
- 2021
-
Ingår i: Molecular biology and evolution. - : Oxford University Press. - 0737-4038 .- 1537-1719. ; 38:1, s. 96-107
-
Tidskriftsartikel (refereegranskat)abstract
- Human herpesvirus 6A and 6B (HHV-6) can integrate into the germline, and as a result about 70 million people harbour the genome of one of these viruses in every cell of their body. Until now, it has been largely unknown if i) these integrations are ancient, ii) if they still occur, and iii) whether circulating virus strains differ from integrated ones. Here we used next generation sequencing and mining of public human genome datasets to generate the largest and most diverse collection of circulating and integrated HHV-6 genomes studied to date. In genomes of geographically dispersed, only distantly-related people, we identified clades of integrated viruses that originated from a single ancestral event, confirming this with fluorescent in situ hybridization to directly observe the integration locus. In contrast to HHV-6B, circulating and integrated HHV-6A sequences form distinct clades, arguing against ongoing integration of circulating HHV-6A or "reactivation" of integrated HHV-6A. Taken together, our study provides the first comprehensive picture of the evolution of HHV-6, and reveals that integration of heritable HHV-6 has occurred since the time of, if not before, human migrations out of Africa.
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| 23. |
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| 24. |
- Döring, Robin C., et al.
(författare)
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Charge-transfer processes and carrier dynamics at the pentacene - C 60 interface
- 2019
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Ingår i: Journal of Physics Condensed Matter. - 0953-8984. ; 31:13
-
Tidskriftsartikel (refereegranskat)abstract
- Heterostructures of pentacene (PEN) and buckminsterfullerene (C 60 ) are frequently attracting scientific interest as a well-defined small-molecule model system for the study of internal interfaces between two organic semiconductors. They are prototypical representatives forming a donor-acceptor combination for studies of fundamental optoelectronic processes in organic photovoltaics. Despite their importance in exciton dissociation, the energetics of their interfacial charge-transfer (CT) states and their microscopic excitation dynamics are not yet clarified and still being discussed. Here, we present steady-state and time-resolved photoluminescence measurements on stacked heterostructures composed of these two materials. All experiments are performed in the visible and near-infrared spectral regions as CT states are expected at energies below the fundamental electronic transitions of the respective bulk materials. A characteristic, interface-specific emission at around 1.13-1.17 eV is found, which we attribute to an interfacial CT state. Its excitation energy dependence reveals the intricate relaxation dynamics of excitons formed in both constituent materials. Moreover, the analysis of the dynamics of the C 60 excitons shows that the lifetime of this state is reduced in the presence of an interface with PEN. This quenching is attributed to a long-range interaction, i.e. the relaxation of excitations into the interfacial CT state.
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| 25. |
- Klein, Olivier, et al.
(författare)
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A Practical Guide for Transparency in Psychological Science
- 2018
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Ingår i: Collabra: Psychology. - : University of California Press. - 2474-7394. ; 4:1
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Forskningsöversikt (refereegranskat)abstract
- The credibility of scientific claims depends upon the transparency of the research products upon which they are based (e.g., study protocols, data, materials, and analysis scripts). As psychology navigates a period of unprecedented introspection, user-friendly tools and services that support open science have flourished. However, the plethora of decisions and choices involved can be bewildering. Here we provide a practical guide to help researchers navigate the process of preparing and sharing the products of their research (e.g., choosing a repository, preparing their research products for sharing, structuring folders, etc.). Being an open scientist means adopting a few straightforward research management practices, which lead to less error prone, reproducible research workflows. Further, this adoption can be piecemeal – each incremental step towards complete transparency adds positive value. Transparent research practices not only improve the efficiency of individual researchers, they enhance the credibility of the knowledge generated by the scientific community.
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| 26. |
- Langlais, B., et al.
(författare)
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Mars environment and magnetic orbiter model payload
- 2009
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Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 23:3, s. 761-783
-
Tidskriftsartikel (refereegranskat)abstract
- Mars Environment and Magnetic Orbiter was proposed as an answer to the Cosmic Vision Call of Opportunity as a M-class mission. The MEMO mission is designed to study the strong interconnections between the planetary interior, atmosphere and solar conditions essential to understand planetary evolution, the appearance of life and its sustainability. MEMO provides a high-resolution, complete, mapping of the magnetic field (below an altitude of about 250 km), with an yet unachieved full global coverage. This is combined with an in situ characterization of the high atmosphere and remote sensing of the middle and lower atmospheres, with an unmatched accuracy. These measurements are completed by an improved detection of the gravity field signatures associated with carbon dioxide cycle and to the tidal deformation. In addition the solar wind, solar EUV/UV and energetic particle fluxes are simultaneously and continuously monitored. The challenging scientific objectives of the MEMO mission proposal are fulfilled with the appropriate scientific instruments and orbit strategy. MEMO is composed of a main platform, placed on a elliptical (130 x 1,000 km), non polar (77A degrees inclination) orbit, and of an independent, higher apoapsis (10,000 km) and low periapsis (300 km) micro-satellite. These orbital parameters are designed so that the scientific return of MEMO is maximized, in terms of measurement altitude, local time, season and geographical coverage. MEMO carry several suites of instruments, made of an 'exospheric-upper atmosphere' package, a 'magnetic field' package, and a 'low-middle atmosphere' package. Nominal mission duration is one Martian year.
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| 27. |
- Litnovsky, A., et al.
(författare)
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Overview of material migration and mixing, fuel retention and cleaning of ITER-like castellated structures in TEXTOR
- 2011
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Ingår i: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 415:1, s. S289-S292
-
Tidskriftsartikel (refereegranskat)abstract
- Plasma-facing components (PFCs) in ITER will be castellated by splitting them into small-size blocks to maintain the thermo-mechanical stability. However, there are concerns in particular on retention of codeposited radioactive fuel in the gaps. An R&D program is underway in TEXTOR addressing this acute issue of castellation. Material migration and fuel inventory are investigated using long- and short-term discharge-resolved experiments with castellated structures in TEXTOR. Significant impurity transport to the gaps was detected and results were in part quantitatively reproduced with 3D-GAPS code. Deposits containing up to 70 at.% of tungsten on the gap areas closest to the plasma were detected in recent experiments. Deposition in the gaps accompanied by metal mixing demand for development of effective cleaning techniques. In experiments with ITER-like castellation, the gaps were cleaned from carbonaceous deposits using oxygen plasmas at 350 degrees C. This contribution contains an overview of experimental and modeling results along with recommendations for PFCs in ITER.
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| 28. |
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| 29. |
- Millischer, V., et al.
(författare)
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Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden
- 2022
-
Ingår i: Lancet Psychiatry. - 2215-0374. ; 9:6, s. 447-457
-
Tidskriftsartikel (refereegranskat)abstract
- Background Lithium is the most effective treatment for bipolar disorder, resulting in strong suicide prevention effects. The therapeutic range of lithium, however, is narrow and treatment initiation requires individual titration to address inter-individual variability. We aimed to improve lithium dose prediction using clinical and genomic data. Methods We performed a population pharmacokinetic study followed by a genome-wide association study (GWAS), including two clinical Swedish cohorts. Participants in cohort 1 were from specialised outpatient clinics at Huddinge Hospital, in Stockholm, Sweden, and participants in cohort 2 were identified using the Swedish National Quality Registry for Bipolar disorder (BipolaR). Patients who received a lithium dose corresponding to at least one tablet of lithium sulphate (6 mmol) per day and had clinically relevant plasma concentrations of lithium were included in the study. Data on age, sex, bodyweight, height, creatinine concentration, estimated glomerular filtration rate (eGFR), lithium preparation, number of tablets of lithium per day, serum lithium concentration, and medications affecting kidney function (C09 antihypertensives, C03 [except C03D] sodium-retaining diuretics, and non-steroidal anti-inflammatory drugs) were obtained retrospectively for several timepoints when possible from electronic health records, BipolaR, and the Swedish prescription registry. The median time between timepoints was 1.07 years for cohort 1 and 1.09 years for cohort 2. The primary outcome of interest was the natural logarithm of total body clearance for lithium (CLLi) associated with the clinical variables. The residual effects after accounting for age and sex, representing the individual-level effects (CLLi,age/sex), were used as the dependent variable in a GWAS. Findings 2357 patients who were administered lithium (1423 women [60.4%] and 934 men [39.6%]; mean age 53.6 years [range 17-89], mainly of European descent) were included and 5627 data points were obtained. Age (variance explained [R-2]: R-cohort1(2)=0.41 and R-cohort2(2)=0.31; both p<0.0001), sex (R-cohort1(2)=0.0063 [p=0.045] and R-cohort2(2)=0.026 [p<0.0001]), eGFR (R-cohort1(2)=0.38 and R-cohort2(2)=0.0; both p<0.0001), comedication with diuretics (R-cohort1(2)=0.0058 [p=0.014] and R-cohort2(2)=0.0026 [p<0.0001]), and agents acting on the renin-aldosterone-angiotensin system (R-cohort1(2)=0.028 and R-cohort2(2)=0.015; both p<0.0001) were clinical predictors of CLLi. Notably, an association between CLLi and serum lithium was observed, with a lower CLLi being associated with higher serum lithium (R-cohort1(2)=0.13 and R-cohort2(2)=0.15; both p<0.0001). In a GWAS of CLLi,age/sex, one locus was associated with a change in CLLi (rs583503; beta=-0.053 [95% CI -0.071 to -0.034]; p<0.00000005). We also found enrichment of the associations with genes expressed in the medulla (p=0.0014, corrected FDR=0.04) and cortex of the kidney (p=0.0015, corrected FDR=0.04), as well as associations with polygenic risk scores for eGFR (p value threshold: 0.05, p=0.01), body-mass index (p value threshold: 0.05, p=0.00025), and blood urea nitrogen (p value threshold: 0.001, p=0.00043). The model based on six clinical predictors explained 61.4% of the variance in CLLi in cohort 1 and 49.8% in cohort 2. Adding genetic markers did not lead to major improvement of the models: within the subsample of genotyped individuals, the variance explained only increased from 59.32% to 59.36% in cohort 1 and from 49.21% to 50.03% in cohort 2 when including rs583503 and the four first principal components. Interpretation Our model predictors could be used clinically to better guide lithium dosage, shortening the time to reach therapeutic concentrations, thus improving care. Identification of the first genomic locus and PRS to be associated with CLLi introduces the opportunity of individualised medicine in lithium treatment. Copyright (C) 2022 Elsevier Ltd. All rights reserved.
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| 30. |
- Nebel, Bernd A., et al.
(författare)
-
A Career in Catalysis : Bernhard Hauer
- 2023
-
Ingår i: ACS Catalysis. - : American Chemical Society (ACS). - 2155-5435. ; 13:13, s. 8861-8889
-
Forskningsöversikt (refereegranskat)abstract
- On the occasion of Professor Bernhard Hauer′s (partial) retirement, we reflect on and highlight his distinguished career in biocatalysis. Bernhard, a biologist by training, has greatly influenced biocatalysis with his vision and ideas throughout his four-decade career. The development of his career went hand in hand with the evolution of biocatalysis and the application and development of enzymes for chemical processes. In this Account, we present selected examples of his early work on the development of enzymes and their application in an industrial setting, with a focus on his specific contributions to harnessing the catalytic power of enzymes for novel reactions and the understanding and engineering of flexible loops and channels on catalysis.
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| 31. |
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| 32. |
- Parreiras, Lucas S., et al.
(författare)
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Engineering and two-stage evolution of a lignocellulosic hydrolysate-tolerant Saccharomyces cerevisiae strain for anaerobic fermentation of xylose from AFEX pretreated corn stover
- 2014
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:9
-
Tidskriftsartikel (refereegranskat)abstract
- The inability of the yeast Saccharomyces cerevisiae to ferment xylose effectively under anaerobic conditions is a major barrier to economical production of lignocellulosic biofuels. Although genetic approaches have enabled engineering of S. cerevisiae to convert xylose efficiently into ethanol in defined lab medium, few strains are able to ferment xylose from lignocellulosic hydrolysates in the absence of oxygen. This limited xylose conversion is believed to result from small molecules generated during biomass pretreatment and hydrolysis, which induce cellular stress and impair metabolism. Here, we describe the development of a xylose-fermenting S. cerevisiae strain with tolerance to a range of pretreated and hydrolyzed lignocellulose, including Ammonia Fiber Expansion (AFEX)-pretreated corn stover hydrolysate (ACSH). We genetically engineered a hydrolysate-resistant yeast strain with bacterial xylose isomerase and then applied two separate stages of aerobic and anaerobic directed evolution. The emergent S. cerevisiae strain rapidly converted xylose from lab medium and ACSH to ethanol under strict anaerobic conditions. Metabolomic, genetic and biochemical analyses suggested that a missense mutation in GRE3, which was acquired during the anaerobic evolution, contributed toward improved xylose conversion by reducing intracellular production of xylitol, an inhibitor of xylose isomerase. These results validate our combinatorial approach, which utilized phenotypic strain selection, rational engineering and directed evolution for the generation of a robust S. cerevisiae strain with the ability to ferment xylose anaerobically from ACSH.
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| 33. |
- Staedele, Veronika, et al.
(författare)
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The complex Y-chromosomal history of gorillas
- 2022
-
Ingår i: American Journal of Primatology. - : John Wiley & Sons. - 0275-2565 .- 1098-2345. ; 84:3
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Tidskriftsartikel (refereegranskat)abstract
- Studies of the evolutionary relationships among gorilla populations using autosomal and mitochondrial sequences suggest that male-mediated gene flow may have been important in the past, but data on the Y-chromosomal relationships among the gorilla subspecies are limited. Here, we genotyped blood and noninvasively collected fecal samples from 12 captives and 257 wild male gorillas of known origin representing all four subspecies (Gorilla gorilla gorilla, G. g. diehli, G. beringei beringei, and G. b. graueri) at 10 Y-linked microsatellite loci resulting in 102 unique Y-haplotypes for 224 individuals. We found that western lowland gorilla (G. g. gorilla) haplotypes were consistently more diverse than any other subspecies for all measures of diversity and comprised several genetically distinct groups. However, these did not correspond to geographical proximity and some closely related haplotypes were found several hundred kilometers apart. Similarly, our broad sampling of eastern gorillas revealed that mountain (G. b. beringei) and Grauer's (G. b. graueri) gorilla Y-chromosomal haplotypes did not form distinct clusters. These observations suggest structure in the ancestral population with subsequent mixing of differentiated haplotypes by male dispersal for western lowland gorillas, and postisolation migration or incomplete lineage sorting due to short divergence times for eastern gorillas.
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