| 1. |
- Alberts, R, et al.
(författare)
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis
- 2018
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 67:8, s. 1517-1524
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Tidskriftsartikel (refereegranskat)abstract
- Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes.ResultsWe identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10–9). Kaplan-Meier survival analysis showed a 50.9% (95% CI 41.5% to 59.5%) transplant-free survival for homozygous AA allele carriers of rs853974 compared with 72.8% (95% CI 69.6% to 75.7%) for GG carriers at 10 years after PSC diagnosis. For the candidate gene in the region, RSPO3, we demonstrated expression in key liver-resident effector cells, such as human and murine cholangiocytes and human hepatic stellate cells.ConclusionWe present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene RSPO3 in key liver-resident effector cells. This warrants further assessments of the role of this potential key PSC modifier gene.
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| 2. |
- Bornemann, Till L., V, et al.
(författare)
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Genetic diversity in terrestrial subsurface ecosystems impacted by geological degassing
- 2022
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Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Earth's mantle releases 38.7 +/- 2.9 Tg/yr CO2 along with other reduced and oxidized gases to the atmosphere shaping microbial metabolism at volcanic sites across the globe, yet little is known about its impact on microbial life under non-thermal conditions. Here, we perform comparative metagenomics coupled to geochemical measurements of deep subsurface fluids from a cold-water geyser driven by mantle degassing. Key organisms belonging to uncultivated Candidatus Altiarchaeum show a global biogeographic pattern and site-specific adaptations shaped by gene loss and inter-kingdom horizontal gene transfer. Comparison of the geyser community to 16 other publicly available deep subsurface sites demonstrate a conservation of chemolithoautotrophic metabolism across sites. In silico replication measures suggest a linear relationship of bacterial replication with ecosystems depth with the exception of impacted sites, which show near surface characteristics. Our results suggest that subsurface ecosystems affected by geological degassing are hotspots for microbial life in the deep biosphere. Geological degassing can impact subsurface metabolism. Here, the authors describe microbial communities from a cold-water geyser are described and compared with other deep subsurface sites, finding a key role for an uncultivated archaeon.
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| 3. |
- Ellinghaus, David, et al.
(författare)
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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
- 2016
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Ingår i: Nature Genetics. - New York, USA : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 48:5, s. 510-518
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Tidskriftsartikel (refereegranskat)abstract
- We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification, molecular subtypes or excessive comorbidity). In particular, the strong comorbidity between primary sclerosing cholangitis and inflammatory bowel disease is likely the result of a unique disease, which is genetically distinct from classical inflammatory bowel disease phenotypes.
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| 5. |
- Govindjee, Govindjee, et al.
(författare)
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David (Dave) Charles Fork (1929–2020) : a gentle human being, a great experimenter, and a passionate researcher
- 2023
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Ingår i: Photosynthesis Research. - : Springer Netherlands. - 0166-8595 .- 1573-5079. ; 155:1, s. 107-125
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Tidskriftsartikel (refereegranskat)abstract
- We provide here an overview of the remarkable life and outstanding research of David (Dave) Charles Fork (March 4, 1929–December 13, 2021) in oxygenic photosynthesis. In the words of the late Jack Edgar Myers, he was a top ‘photosynthetiker’. His research dealt with novel findings on light absorption, excitation energy distribution, and redistribution among the two photosystems, electron transfer, and their relation to dynamic membrane change as affected by environmental changes, especially temperature. David was an attentive listener and a creative designer of experiments and instruments, and he was also great fun to work with. He is remembered here by his family, coworkers, and friends from around the world including Australia, France, Germany, Japan, Sweden, Israel, and USA.
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| 6. |
- Grob, Stefan, et al.
(författare)
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Solvent vapor annealing on perylene-based organic solar cells
- 2015
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Ingår i: Journal of Materials Chemistry A. - : Royal Society of Chemistry. - 2050-7488 .- 2050-7496. ; 3:30, s. 15700-15709
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Tidskriftsartikel (refereegranskat)abstract
- Diindenoperylene (DIP) and tetraphenyldibenzoperiflanthene (DBP) are two commonly used donor materials in organic solar cell devices. Despite their structural similarities, DIP films are crystalline, exhibiting good charge and exciton transport, whereas DBP films are amorphous and have lower carrier mobility and a short exciton diffusion length. However, DBP reveals a distinctly higher absorption due to the lying orientation of its transition dipole moments. In this paper, we investigate the influence of solvent vapor annealing (SVA) on the solar cell performance of both materials. In general, SVA induces a partial re-solubilization of the material leading to enhanced crystallinity of the treated layer. For DBP, extended annealing times result in a strong aggregation of the molecules, creating inhomogeneous layers unfavorable for solar cells. However, in DIP cells, SVA leads to an increase in fill factor (FF) and also a slight increase in short-circuit current density (JSC) due to interface roughening. The best results are obtained by combining solvent vapor annealed DIP layers with strongly absorbing DBP and C-70 on top. Through this device architecture, we obtain the same increase in FF in addition to a higher gain in J(SC), elevating the power conversion efficiency by a factor of 1.2 to more than 4%.
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| 8. |
- Hörmann, Ulrich, et al.
(författare)
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Voc from a Morphology Point of View : the Influence of Molecular Orientation on the Open Circuit Voltage of Organic Planar Heterojunction Solar Cells
- 2014
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Ingår i: Journal of physical chemistry C. - : American Chemical Society (ACS). - 1932-7455 .- 1932-7447. ; 118:46, s. 26462-26470
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Tidskriftsartikel (refereegranskat)abstract
- The film morphology and device performance of planar heterojunctionsolar cells based on the molecular donor material α-sexithiophene (6T) are investigated.Planar heterojunctions of 6T with two different acceptor molecules, the C60 fullerene anddiindenoperylene (DIP), have been prepared. The growth temperature of the 6T bottomlayer has been varied between room temperature and 100 °C for each acceptor. By meansof X-ray diffraction and X-ray absorption, we show that the crystallinity and the molecularorientation of 6T is influenced by the preparation conditions and that the 6T filmtemplates the growth of the subsequent acceptor layer. These structural changes areaccompanied by changes in the characteristic parameters of the correspondingphotovoltaic cells. This is most prominently observed as a shift of the open circuitvoltage (Voc): In the case of 6T/C60 heterojunctions, Voc decreases from 0.4 to 0.3 V,approximately, if the growth temperature of 6T is increased from room temperature to 100°C. By contrast, Voc increases from about 1.2 V to almost 1.4 V in the case of 6T/DIP solarcells under the same conditions. We attribute these changes upon substrate heating toincreased recombination in the C60 case while an orientation dependent intermolecular coupling seems to change the origin of the photovoltaic gap in the DIP case.
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