| 1. |
- Sampson, Joshua N., et al.
(author)
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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
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In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Journal article (peer-reviewed)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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| 2. |
- Kanoni, Stavroula, et al.
(author)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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In: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Journal article (peer-reviewed)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 3. |
- Chen, Daru, et al.
(author)
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Single-longitudinal-mode erbium-doped fiber laser based on a fiber Bragg grating Fabry-Perot filter
- 2007
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In: Laser physics. - 1054-660X .- 1555-6611. ; 17:10, s. 1246-1248
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Journal article (peer-reviewed)abstract
- A novel single-longitudinal-mode (SLM) erbium-doped fiber laser with a simple linear cavity based on a fiber Bragg grating Fabry-Perot filter (FBG-FPF) and a narrowband (similar to 0.06 nm) FBG is proposed and demonstrated experimentally. Two uniform FBGs form the FBG-FPF, which has two ultranarrow transmission bands with a bandwidth of 0.12 pm and a wavelength spacing of 0.095 nm. By slightly tuning the central wavelength of the narrowband FBG, SLM lasing at 1549.658 or 1549.563 nm (corresponding to the two transmission peaks of the FBG-FPF) is achieved with a laser output power of similar to 4 mW, when the pump power is similar to 75 mW.
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| 4. |
- Feng, Ruizhi, et al.
(author)
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Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
- 2016
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In: The New England journal of medicine. - 1533-4406. ; 374:3, s. 223-232
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Journal article (peer-reviewed)abstract
- Background Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte maturation are unknown. Methods We sequenced the exomes of five members of a four-generation family, three of whom had infertility due to oocyte meiosis I arrest. We performed Sanger sequencing of a candidate gene, TUBB8, in DNA samples from these members, additional family members, and members of 23 other affected families. The expression of TUBB8 and all other β-tubulin isotypes was assessed in human oocytes, early embryos, sperm cells, and several somatic tissues by means of a quantitative reverse-transcriptase-polymerase-chain-reaction assay. We evaluated the effect of the TUBB8 mutations on the assembly of the heterodimer consisting of one α-tubulin polypeptide and one β-tubulin polypeptide (α/β-tubulin heterodimer) in vitro, on microtubule architecture in HeLa cells, on microtubule dynamics in yeast cells, and on spindle assembly in mouse and human oocytes. Results We identified seven mutations in the primate-specific gene TUBB8 that were responsible for oocyte meiosis I arrest in 7 of the 24 families. TUBB8 expression is unique to oocytes and the early embryo, in which this gene accounts for almost all the expressed β-tubulin. The mutations affect chaperone-dependent folding and assembly of the α/β-tubulin heterodimer, disrupt microtubule behavior on expression in cultured cells, alter microtubule dynamics in vivo, and cause catastrophic spindle-assembly defects and maturation arrest on expression in mouse and human oocytes. Conclusions TUBB8 mutations have dominant-negative effects that disrupt microtubule behavior and oocyte meiotic spindle assembly and maturation, causing female infertility. (Funded by the National Basic Research Program of China and others.).
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| 5. |
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| 6. |
- Gao, S., et al.
(author)
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Microwave frequency up/downconversion based on dual-wavelength fibre laser
- 2009
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In: Electronics Letters. - : Institution of Engineering and Technology (IET). - 0013-5194 .- 1350-911X. ; 45:18, s. 932-933
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Journal article (peer-reviewed)abstract
- A novel method of microwave frequency up/downconversion is proposed for microwave/millimetre-wave-based radio-over-fibre (RoF) systems. The uplink and downlink are both based on dual-wavelength single-longitudinal-mode fibre laser modulation and heterodyning, which provides the possibility to realise bidirectional RoF transmissions.
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| 7. |
- Han, Jingrui, et al.
(author)
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Lattice Oxygen Activation through Deep Oxidation of Co4N by Jahn–Teller–Active Dopants for Improved Electrocatalytic Oxygen Evolution
- 2024
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In: Angewandte Chemie International Edition. - : John Wiley & Sons. - 1433-7851 .- 1521-3773. ; 63:33
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Journal article (peer-reviewed)abstract
- Triggering the lattice oxygen oxidation mechanism is crucial for improving oxygen evolution reaction (OER) performance, because it could bypass the scaling relation limitation associated with the conventional adsorbate evolution mechanism through the direct formation of oxygen–oxygen bond. High-valence transition metal sites are favorable for activating the lattice oxygen, but the deep oxidation of pre-catalysts suffers from a high thermodynamic barrier. Here, taking advantage of the Jahn–Teller (J–T) distortion induced structural instability, we incorporate high-spin Mn3+ ( ) dopant into Co4N. Mn dopants enable a surface structural transformation from Co4N to CoOOH, and finally to CoO2, as observed by various in situ spectroscopic investigations. Furthermore, the reconstructed surface on Mn-doped Co4N triggers the lattice oxygen activation, as evidenced experimentally by pH-dependent OER, tetramethylammonium cation adsorption and online electrochemical mass spectrometry measurements of 18O-labelled catalysts. In general, this work not only offers the introducing J–T effect approach to regulate the structural transition, but also provides an understanding about the influence of the catalyst's electronic configuration on determining the reaction route, which may inspire the design of more efficient catalysts with activated lattice oxygen.
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| 8. |
- Hao, Qian, et al.
(author)
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Holocene carbon accumulation in lakes of the current east Asian monsoonal margin: Implications under a changing climate
- 2020
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In: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 737, s. 1-13
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Journal article (peer-reviewed)abstract
- Carbon (C) present in lake sediments is an important global sink for CO2; however, an in-depth understanding of the impact of climate variability and the associated changes in vegetation on sediment C dynamics is still lacking. A total of 13 lakes were studied to quantify the influence of climate and vegetation on the reconstructed Holocene C accumulation rate (CAR) in lake sediments of the modern East Asian monsoonal margin. The corresponding paleoclimate information was assessed, including the temperature (30–90°N in the Northern Hemisphere) and precipitation (indicated by the δ18O of the Sanbao, Dongge, and Hulu caves). The Holocene vegetation conditions were inferred by pollen records, including arboreal pollen/non-arboreal pollen and pollen percentages. The results showed that the peak CAR occurred during the mid-Holocene, coinciding with the strongest period of the East Asian summer monsoon and expansion of forests. Lakes in the temperate steppe (TS) regions had a mean CAR of 13.41 ± 0.88 g C m−2 yr−1, which was significantly greater than the CARs of temperate desert (TD) and highland meadow/steppe (HMS; 6.76 ± 0.29 and 7.39 ± 0.73 g C m−2 yr−1, respectively). The major influencing factor for the TS sub-region was vegetation dynamics, especially the proportion of arboreal vegetation, while temperature and vegetation coverage were more important for the HMS. These findings indicate that C accumulation in lake sediments is linked with climate and vegetation changes over long timescales; however, there was notable spatial heterogeneity in the CARs, such as opposing temporal changes and different major influencing factors among the three sub-regions during the mid-Holocene. Aridification and forest loss would decrease C storage. However, prediction of C accumulation remains difficult because of the spatial heterogeneity in CARs and the interaction between the CAR and various factors under future climate change conditions.
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| 9. |
- Li, Furong, et al.
(author)
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Towards quantification of Holocene anthropogenic land-cover change in temperate China : A review in the light of pollen-based REVEALS reconstructions of regional plant cover
- 2020
-
In: Earth-Science Reviews. - : Elsevier. - 0012-8252 .- 1872-6828. ; 203, s. 1-25
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Research review (peer-reviewed)abstract
- In an attempt to quantify Holocene anthropogenic land-cover change in temperate China, we 1) applied the REVEALS model to estimate plant-cover change using 94 pollen records and relative pollen productivity for 27 plant taxa, 2) reviewed earlier interpretation of pollen studies in terms of climate- and human-induced vegetation change, and 3) reviewed information on past land use from archaeological studies. REVEALS achieved a more realistic reconstruction of plant-cover change than pollen percentages in terms of openland versus woodland. The study suggests successive human-induced changes in vegetation cover. The first signs of human-induced land-cover change (crop cultivation, otherwise specified) are found c. 7 ka BP in the temperate deciduous forest, and S and NE Tibetan Plateau (mainly grazing, possibly crop cultivation), 6.5-6 ka BP in the temperate steppe and temperate desert (grazing, uncertain), and 5.5-5 ka BP in the coniferous-deciduous mixed forest, NE subtropical region, and NW Tibetan Plateau (grazing). Further intensification of anthropogenic land-cover change is indicated 5-4.5 ka BP in the E temperate steppe, and S and NE Tibetan Plateau (grazing, cultivation uncertain), 3.5-3 ka BP in S and NE Tibetan Plateau, W temperate steppe, temperate desert (grazing), and NW Tibetan Plateau (probably grazing), and 2.5-2 ka BP in the temperate deciduous forest, N subtropical region, and temperate desert (grazing). These changes generally agree with increased human activity as documented by archaeological studies. REVEALS reconstructions have a stronger potential than biomization to evaluate scenarios of anthropogenic land-cover change such as HYDE, given they are combined with information from archaeological studies.
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| 10. |
- Ma, Zhuo, et al.
(author)
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Deciphering early human pancreas development at the single-cell level
- 2023
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In: Nature Communications. - : NATURE PORTFOLIO. - 2041-1723. ; 14:1
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Journal article (peer-reviewed)abstract
- Understanding pancreas development can provide clues for better treatments of pancreatic diseases. However, the molecular heterogeneity and developmental trajectory of the early human pancreas are poorly explored. Here, we performed large-scale single-cell RNA sequencing and single-cell assay for transposase accessible chromatin sequencing of human embryonic pancreas tissue obtained from first-trimester embryos. We unraveled the molecular heterogeneity, developmental trajectories and regulatory networks of the major cell types. The results reveal that dorsal pancreatic multipotent cells in humans exhibit different gene expression patterns than ventral multipotent cells. Pancreato-biliary progenitors that generate ventral multipotent cells in humans were identified. Notch and MAPK signals from mesenchymal cells regulate the differentiation of multipotent cells into trunk and duct cells. Notably, we identified endocrine progenitor subclusters with different differentiation potentials. Although the developmental trajectories are largely conserved between humans and mice, some distinct gene expression patterns have also been identified. Overall, we provide a comprehensive landscape of early human pancreas development to understand its lineage transitions and molecular complexity. Here, the authors revealed molecular heterogeneity, developmental trajectory and regulatory network of early human pancreas development, and depict the whole progression of pancreatic organogenesis during the first trimester at the single-cell level.
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| 11. |
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| 12. |
- Shi, Fangzhong, et al.
(author)
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Seasonal compensation implied no weakening of the land carbon sink in the Northern Hemisphere under the 2015/2016 El Niño
- 2024
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In: Science China Earth Sciences. - 1674-7313 .- 1869-1897. ; 67:1, s. 294-308
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Journal article (peer-reviewed)abstract
- The recurrent extreme El Niño events are commonly linked to reduced vegetation growth and the land carbon sink over many but discrete regions of the Northern Hemisphere (NH). However, we reported here a pervasive and continuous vegetation greening and no weakened land carbon sink in the maturation phase of the 2015/2016 El Niño event over the NH (mainly in the extra-tropics), based on multiple evidences from remote sensing observations, global ecosystem model simulations and atmospheric CO2 inversions. We discovered a significant compensation effect of the enhanced vegetation growth in spring on subsequent summer/autumn vegetation growth that sustained vegetation greening and led to a slight increase in the land carbon sink over the spring and summer of 2015 (average increases of 23.34% and 0.63% in net ecosystem exchange from two independent datasets relative to a 5-years average before the El Niño event, respectively) and spring of 2016 (6.82%), especially in the extra-tropics of the NH, where the water supply during the pre-growing-season (November of the previous year to March of the current year) had a positive anomaly. This seasonal compensation effect was much stronger than that in 1997 and 1998 and significantly alleviated the adverse impacts of the 2015/2016 El Niño event on vegetation growth during its maturation phase. The legacy effect of water supply during the pre-growing-season on subsequent vegetation growth lasted up to approximately six months. Our findings highlight the role of seasonal compensation effects on mediating the land carbon sink in response to episodic extreme El Niño events.
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| 13. |
- Wang, Lu, et al.
(author)
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Historical Soil Moisture Variability in High-Latitude Humid Regions: Insights From a Paleoclimate Data-Model Comparison
- 2024
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In: EARTHS FUTURE. - 2328-4277. ; 12:5
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Journal article (peer-reviewed)abstract
- Understanding historical soil moisture (SM) variations and their relationship with temperature in high-latitude humid regions is essential for predicting hot droughts under widespread warming. This paper presents the first-ever annual-resolution summer surface SM reconstruction (1736-2006 CE) in Sweden, located in northern Europe (NE). The reconstruction utilizes the paleoclimate proxy, tree-ring delta O-18, which exhibits a strong correlation with reanalysis SM data during 1948-2007 CE (r = -0.67, p < 0.001). In contrast to an unprecedented trend suggested by previous studies, our reconstruction exhibits a wetting trend in NE since the 1960s falling within the historical spectrum of trends. Both reanalysis SM data and our reconstruction show significant negative correlations with temperature at interannual timescales. However, Coupled Model Intercomparison Project Phase 6 climate models failed to capture the significant SM-temperature relationship during the historical (1850-1947 CE) and observation periods (1948-2006 CE). This proxy-model comparison represents a critical step toward enhancing our understanding of SM dynamics and the reliability of SM projections in high-latitude humid regions.
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| 14. |
- Wang, Ning, et al.
(author)
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Boride-derived oxygen-evolution catalysts
- 2021
-
In: Nature Communications. - : Springer Nature. - 2041-1723. ; 12
-
Journal article (peer-reviewed)abstract
- Metal borides/borates have been considered promising as oxygen evolution reaction catalysts; however, to date, there is a dearth of evidence of long-term stability at practical current densities. Here we report a phase composition modulation approach to fabricate effective borides/borates-based catalysts. We find that metal borides in-situ formed metal borates are responsible for their high activity. This knowledge prompts us to synthesize NiFe-Boride, and to use it as a templating precursor to form an active NiFe-Borate catalyst. This boride-derived oxide catalyzes oxygen evolution with an overpotential of 167 mV at 10 mA/cm2 in 1 M KOH electrolyte and requires a record-low overpotential of 460 mV to maintain water splitting performance for over 400 h at current density of 1 A/cm2. We couple the catalyst with CO reduction in an alkaline membrane electrode assembly electrolyser, reporting stable C2H4 electrosynthesis at current density 200 mA/cm2 for over 80 h.
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| 15. |
- Wu, Xiuchen, et al.
(author)
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Exposures to temperature beyond threshold disproportionately reduce vegetation growth in the northern hemisphere
- 2019
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In: National Science Review. - : Oxford University Press (OUP). - 2095-5138 .- 2053-714X. ; 6:4, s. 786-795
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Journal article (peer-reviewed)abstract
- In recent decades, terrestrial vegetation in the northern hemisphere (NH) has been exposed to warming and more extremely high temperatures. However, the consequences of these changes for terrestrial vegetation growth remain poorly quantified and understood. By examining a satellite-based vegetation index, tree-ring measurements and land-surface model simulations, we discovered a consistent convex pattern in the responses of vegetation growth to temperature exposure (TE) for forest, shrub and grass in both the temperate (30°−50° N) and boreal (50°−70° N) NH during the period of 1982−2012. The response of vegetation growth to TE for the three vegetation types in both the temperate and boreal NH increased convergently with increasing temperature, until vegetation type-dependent temperature thresholds were reached. A TE beyond these temperature thresholds resulted in disproportionately weak positive or even strong negative responses. Vegetation growth in the boreal NH was more vulnerable to extremely high-temperature events than vegetation growth in the temporal NH. The non-linear responses discovered here provide new insights into the dynamics of northern terrestrial ecosystems in a warmer world.
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| 16. |
- Yang, Huiqing, et al.
(author)
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Protic Quaternary Ammonium Ionic Liquids for Catalytic Conversion of CO2 into Cyclic Carbonates : A Combined Ab Initio and MD Study
- 2018
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In: Industrial & Engineering Chemistry Research. - : AMER CHEMICAL SOC. - 0888-5885 .- 1520-5045. ; 57:21, s. 7121-7129
-
Journal article (peer-reviewed)abstract
- The mechanism of CO2 fixation catalyzed by protic hydroxyl-functionalized quaternary ammonium ionic liquids (ILs) is investigated by two different models, the Single-IL model and the Double-IL model. The relative sequence of catalytic activity calculated by the Single-IL model is contradictory with the experimental result. The situation is totally varied when the Double-IL model is utilized. In this system, ILs are not limited to the catalyst but solvent. The ILs are incorporated into the catalytic system to consider the solvent effect rather than by the existing solvent model. When the solvent effect is included, it is better to distinguish the catalytic activity of three ILs. According to the noncovalent interaction and the atoms in molecules analysis, the highest catalytic activity of tris(2-hydroxyethyl)ammonium bromide ([HTEA]Br) is attributed to its strongest nucleophilic attack and moderate hydrogen bond interaction between IL and reactant. It is necessary to consider the interaction between ILs to get a reliable result. Moreover, the solvent effect aroused by ILs should be carefully considered.
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| 17. |
- Zhang, Xingjin, et al.
(author)
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Capacity configuration of a hydro-wind-solar-storage bundling system with transmission constraints of the receiving-end power grid and its techno-economic evaluation
- 2022
-
In: Energy Conversion and Management. - : PERGAMON-ELSEVIER SCIENCE LTD. - 0196-8904 .- 1879-2227. ; 270
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Journal article (peer-reviewed)abstract
- The hydro-wind-solar-storage bundling system plays a critical role in solving spatial and temporal mismatch problems between renewable energy resources and the electric load in China. An efficient bundling system ca-pacity configuration can improve the consumption level and reduce the renewable energy transmission cost. However, the restriction between economic feasibility and technical transmission constraints of the bundling system is not well understood. This restriction is becoming more and more obvious with the decrease of renewable energy price compensation year by year. This study compares the role of technical and economic indicators of capacity configuration, as well as the constraint relationship between electricity price and trans-mission constraints. Three screening principles of capacity configuration are proposed to reveal the techno-economic interaction. This paper explores a practical engineering case of Northwest China using a bundling system capacity configuration model. The internal rate of return is assumed as 8% for the bundling system. The results show that reducing the wind curtailment rate can effectively reduce the cost per MWh when the trans-mission guarantee rate is larger than 90%. Moreover, an integrated feed-in tariff based on market competi-tiveness is obtained if the wind curtailment rate is controlled by 5%. For example, the integrated feed-in tariff is 463.7 RMB/MWh when the wind curtailment rate is less than 5% and the transmission guarantee rate is larger than 95%. These results verify that the techno-economic interaction of the bundling system offers important theoretical support for selecting techno-economic indicators and capacity configuration.
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| 18. |
- Zhang, Xiaodong, et al.
(author)
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Storage of soil phytoliths and phytolith-occluded carbon along aprecipitation gradient in grasslands of northern China
- 2020
-
In: Geoderma. - : Elsevier. - 0016-7061 .- 1872-6259. ; 364, s. 1-9
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Journal article (peer-reviewed)abstract
- Climatic factors including mean annual precipitation (MAP) significantly influence the carbon (C) cycle interrestrial ecosystems and Earth overall. Phytolith-occluded carbon (PhytOC) is an important C sequestrationmechanism and as such plays a vital role in global long-term C sequestration. Understanding the spatialvariability in the storage of soil phytoliths and PhytOC and its relationship with climate is critical for evaluatingthe impact of global climate change on terrestrial ecosystem functions. However, little is known about theresponses of soil phytoliths and PhytOC to MAP in grassland ecosystems. This study sampled soil from 24natural, semi-arid steppe sites along a 2,500 km transect with a precipitation gradient of 243–481 mm yr−1 innorthern China. We investigated the influence of precipitation on the spatial distributions of soil phytoliths andPhytOC storage. Storage of soil phytoliths in bulk soil (0–100 cm depth) ranged from 21.3 ± 0.4 to88.4 ± 20.3 t ha−1 along the precipitation gradient. Amounts of soil phytoliths and PhytOC storage weresignificantly and positively correlated with MAP. Multiple regression analysis revealed that phytolith storage inbulk soil was best predicted by MAP (R = 0.5) and soil organic carbon (SOC, R = 0.4), with these two variablesaccounting for about 58% of the total variation observed. Considering the forecasted increase in MAP in theInner Mongolian steppe due to climate change, and the strong influence of MAP on the annual net primaryproductivity (ANPP) and related soil PhytOC input from litter decomposition in this region, we expect thatecosystem primary productivity will increase from deserts to meadow steppe and thereby promote soil PhytOCstorage. These findings have important implications for understanding the dynamics of soil phytoliths, andpredicting the impacts of global climate change on ecosystem functions and management practices in the EastAsian steppe ecosystems.
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