| 1. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Li, Constance H., et al.
(författare)
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Sex differences in oncogenic mutational processes
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.
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| 3. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 4. |
- Hu, Jutao, et al.
(författare)
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The origin of anomalous hydrogen occupation in high entropy alloys
- 2022
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Ingår i: Journal of Materials Chemistry A. - : Royal Society of Chemistry (RSC). - 2050-7488 .- 2050-7496. ; 10:13, s. 7228-7237
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Tidskriftsartikel (refereegranskat)abstract
- Metal hydrogen storage materials have been the focus of intensive research in the field of hydrogen-based economy. An outstanding question is that the number of hydrogen atoms accommodated in metal hydrides is generally much below the number of interstices, which limits their hydrogen storage capacities. Unlike traditional FCC metal hydrides where hydrogen can only occupy tetrahedral interstices, this study demonstrates that hydrogen can also occupy octahedral interstices in FCC high entropy alloy (HEA) hydrides, which leads to the violation of the Switendick criterion. For Ti25V25Nb25Ta25 and Ti25V25Nb25Zr25 HEAs, nearly 20% and 17.5% of octahedral interstices can be occupied by hydrogen, respectively. The anomalous hydrogen occupation mainly originates from the intrinsic electron delocalization between hydrogen atoms in HEA hydrides, which presents a sharp contrast to traditional metal hydrides. Such electron delocalization decreases repulsive interactions between hydrogens and promotes the electron localization at octahedral interstices. Additionally, this study reveals that hydrogen occupation at octahedral interstices enhances the structural disordering and decreases the thermal stability of HEA hydrides, which will be beneficial to reduce the dehydrogenation temperature. The presented results may provide a new strategy for the design of high-density storage materials.
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| 5. |
- Hu, Jutao, et al.
(författare)
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Effects of NH4+ doping on the hydrogen storage properties of metal hydrides
- 2023
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Ingår i: International journal of hydrogen energy. - : Elsevier Ltd. - 0360-3199 .- 1879-3487. ; 48:50, s. 19153-19159
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Tidskriftsartikel (refereegranskat)abstract
- Doping can modify the properties of metal hydrogen storage materials significantly. Currently, the metal doping is a frequent strategy, while the non-metal cation doping has not been examined extensively so far. In this study, the effects of NH4+ doping on the hydrogen storage properties of different metal hydrides, including TiH2, Ti0·25V0·25Nb0·25Zr0·25H2, Ti0·5V0·5H2 and VH2, are investigated by first-principles calculations. It is found that the NH4+ presents a good affinity for metal hydrides and the NH4+ incorporation leads to charge redistribution and formation of dihydrogen bond. Furthermore, the NH4+ doping in metal hydrides is favorable for enhancing the hydrogen storage capacity and decreasing the thermal stability simultaneously. The possible reason for the NH4+ doping induced destabilization in metal hydrides is the relatively weak interaction between NH4+ and hydrogen atoms.
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| 6. |
- Huang, He, et al.
(författare)
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Material informatics for uranium-bearing equiatomic disordered solid solution alloys
- 2021
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Ingår i: Materials Today Communications. - : Elsevier BV. - 2352-4928. ; 29
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Tidskriftsartikel (refereegranskat)abstract
- Near-equiatomic, multi-component alloys with disordered solid solution phase (DSSP) are associated with outstanding performance in phase stability, mechanical properties and irradiation resistance, and may provide a feasible solution for developing novel uranium-based alloys with better fuel capacity. In this work, we build a machine learning (ML) model of disordered solid solution alloys (DSSAs) based on about 6000 known multicomponent alloys and several materials descriptors to efficiently predict the DSSAs formation ability. To fully optimize the ML model, we develop a multi-algorithm cross-verification approach in combination with the SHapley Additive exPlanations value (SHAP value). We find that the Delta S-C, Lambda, Phi(s), gamma and 1/Omega, corresponding to the former two Hume - Rothery (H - R) rules, are the most important materials descriptors affecting DSSAs formation ability. When the ML model is applied to the 375 uranium-bearing DSSAs, 190 of them are predicted to be the DSSAs never known before. 20 of these alloys were randomly synthesized and characterized. Our predictions are in-line with experiments with 3 inconsistent cases, suggesting that our strategy offers a fast and accurate way to predict novel multi-component alloys with high DSSAs formation ability. These findings shed considerable light on the mapping between the material descriptors and DSSAs formation ability.
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| 7. |
- Wang, Gang, et al.
(författare)
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Tumour extracellular vesicles and particles induce liver metabolic dysfunction
- 2023
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Ingår i: Nature. - : NATURE PORTFOLIO. - 0028-0836 .- 1476-4687. ; 618:7964, s. 374-382
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Tidskriftsartikel (refereegranskat)abstract
- Cancer alters the function of multiple organs beyond those targeted by metastasis(1,2). Here we show that inflammation, fatty liver and dysregulated metabolism are hallmarks of systemically affected livers in mouse models and in patients with extrahepatic metastasis. We identified tumour-derived extracellular vesicles and particles (EVPs) as crucial mediators of cancer-induced hepatic reprogramming, which could be reversed by reducing tumour EVP secretion via depletion of Rab27a. All EVP subpopulations, exosomes and principally exomeres, could dysregulate hepatic function. The fatty acid cargo of tumour EVPs-particularly palmitic acid-induced secretion of tumour necrosis factor (TNF) by Kupffer cells, generating a pro-inflammatory microenvironment, suppressing fatty acid metabolism and oxidative phosphorylation, and promoting fatty liver formation. Notably, Kupffer cell ablation or TNF blockade markedly decreased tumour-induced fatty liver generation. Tumour implantation or pre-treatment with tumour EVPs diminished cytochrome P450 gene expression and attenuated drug metabolism in a TNF-dependent manner. We also observed fatty liver and decreased cytochrome P450 expression at diagnosis in tumour-free livers of patients with pancreatic cancer who later developed extrahepatic metastasis, highlighting the clinical relevance of our findings. Notably, tumour EVP education enhanced side effects of chemotherapy, including bone marrow suppression and cardiotoxicity, suggesting that metabolic reprogramming of the liver by tumour-derived EVPs may limit chemotherapy tolerance in patients with cancer. Our results reveal how tumour-derived EVPs dysregulate hepatic function and their targetable potential, alongside TNF inhibition, for preventing fatty liver formation and enhancing the efficacy of chemotherapy.
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| 8. |
- Yang, Fengmei, et al.
(författare)
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Li2FePO4F and its metal-doping for Li-ion batteries : an ab initio study
- 2014
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Ingår i: RSC Advances. - : Royal Society of Chemistry (RSC). - 2046-2069. ; 4:91, s. 50195-50201
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Tidskriftsartikel (refereegranskat)abstract
- The electrochemical properties of three isotopic Li2FePO4F compounds, as cathode materials under different space groups Pbcn, P (1) over bar and Pnma were investigated using first principle calculations. Their structures and average open circuit voltages for step delithiation reactions were explored, and the results are in good agreement with the reported experimental data. We estimate the substitution effect of Fe by Co in Pnma-Li2FePO4F. The substitution of Fe by Co in Li2Fe1-xCoxPO4F may enhance the discharge potential of the materials, and the rate of its volume change during the redox process is between 0.6% and 2.1%. Furthermore, from the projected density of states for Li2Fe0.5Co0.5PO4F, we found strong hybridization for Fe-3d and Co-3d bands near the Fermi level, which implies that the Co-doped Li2Fe1-xCoxPO4F may possess better electronic conductivity than the pure phase.
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| 9. |
- Han, Yuchen, et al.
(författare)
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Characteristics and Application Analysis of a Novel Full Fresh Air System Using Only Geothermal Energy for Space Cooling and Dehumidification
- 2024
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Ingår i: Buildings. - : MDPI. - 2075-5309. ; 14:5
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Tidskriftsartikel (refereegranskat)abstract
- To effectively reduce building energy consumption, a novel full fresh air system with a heat source tower (HST) and a borehole heat exchanger (BHE) was proposed for space cooling and dehumidification in this paper. The cooling system only adopts geothermal energy to produce dry and cold fresh air for space cooling and dehumidification through the BHE and HST, which has the advantage of non-condensate water compared to BHE systems integrated with a fan coil or chilled beam. Based on the established mathematical model of the cooling system, this paper analyzed the system characteristics, feasibility, operation strategy, energy performance, and cost-effectiveness of the proposed model in detail. The results show that the mathematical model has less than 10% error in estimating the system performance compared to the practical HST-BHE experimental set up. Under the specific boundary conditions, the cooling and dehumidification capacity of this system increases with the decrease in the air temperature, air moisture content, and inlet water temperature of the HST. The optimal cooling capacity and the system COP can be achieved when the air-water flow ratio is at 4:3. A case study was conducted in a residential building in Shenyang with an area of about 1800 m2. It was found that this system can fully meet the cooling and dehumidification demand in such a residential building. The operation strategy of the cooling system can be optimized by adjusting the air-water flow ratio from 4:3 to 3:2 during the early cooling season (7 June-1 July) and end cooling season (3 August-1 September). As a result, the average COP of the cooling system during the whole cooling season can be improved from 6.1 to 8.7. Compared with the air source heat pump (ASHP) and the ground source heat pump (GSHP) for space cooling, the proposed cooling system can achieve an energy saving rate of 123% and 26%, respectively. Considering that the BHE of the GSHP can be part of the proposed HST-BHE cooling system, the integration of the HST and GHSP for space cooling (and heating) is strongly recommended in actual applications.
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| 10. |
- Kang, Fengwen, et al.
(författare)
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Spectral Tuning, Stabilities under External Exposures, and Spontaneous Enhancement of Emission Intensity in Grown-into-Glass All-Inorganic Metal Halide Perovskite Nanocrystals
- 2023
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Ingår i: Laser and Photonics Reviews. - : Wiley. - 1863-8880 .- 1863-8899. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Herein, the grown-into-glass (GIG) CsPbBr3:Ln3+ (Ln = La, Lu) nanocrystals (NCs) are designed and fabricated using an in situ nanocrystallization method. It is shown that a substitution of Pb2+ sites with Ln3+ ions leads to a blueshift of emission position induced by an increase of the bandgap of CsPbBr3. Additionally, the GIG-samples are found to feature excellent photoluminescent (PL) properties after being immersed respectively in water for 300 days at room temperature, boiling water for 12 h, and corrosive environments for 24 h, as well as recoverable PL intensity either after several cycles of heat-cooling experiments or after being continuously exposed to a 405 nm laser irradiation. Besides, a spontaneous enhancement of 20-25% of emission intensity during the 1-2.5 hours' stage of a 405 nm laser irradiation, attributed to the radiative recombination of charge carriers that can be de-trapped from trapping levels upon the laser light irradiation and that then spontaneously reinforces the emission intensity, is observed in the GIG-CsPbBr3:Ln3+ NCs. Finally, a white light-emitting prototype, with a CIE chromaticity coordinate at (0.4110, 0.3706), a color rendering index of 89 and a correlated color temperature of 3363 K is realized by combining the GIG-CsPbBr3 NCs, YAG:Ce and CaWO4:Eu phosphors.
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| 11. |
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| 12. |
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| 13. |
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| 14. |
- Li, Hu, et al.
(författare)
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Dyes as Labels in Biosensing
- 2021
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Ingår i: Dyes and Pigments. - London : IntechOpen. - 9781839686153
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Bokkapitel (refereegranskat)abstract
- Investigation and evaluation of dyes play a vital role in the process of introduction novel labels and their corresponding sensing methods, which signify opportunities for the development of biosensors. This chapter introduces applications of various dyes as labels in biosensing. Bio-recognition molecules with dyes transduce biological information into measurable optical, electrochemical, magnetic or other kinds of signals for quantification. The dyes used in this field were summarized and reviewed according to their signal types, namely colorimetric, fluorescent and electrochemical. Some dyes can transduce signals between multiple physical signals. For some most important dyes, detailed descriptions were given focused on their unique properties, labeling methods and sensing mechanisms.
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| 15. |
- Li, Haiyan, et al.
(författare)
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Fragmentation inside proton-transfer-reaction-based mass spectrometers limits the detection of ROOR and ROOH peroxides
- 2022
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Ingår i: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 15:6, s. 1811-1827
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Tidskriftsartikel (refereegranskat)abstract
- Proton transfer reaction (PTR) is a commonly applied ionization technique for mass spectrometers, in which hydronium ions (H3O+) transfer a proton to analytes with higher proton affinities than the water molecule. This method has most commonly been used to quantify volatile hydrocarbons, but later-generation PTR instruments have been designed for better throughput of less volatile species, allowing detection of more functionalized molecules as well. For example, the recently developed Vocus PTR time-of-flight mass spectrometer (PTR-TOF) has been shown to agree well with an iodide-adduct-based chemical ionization mass spectrometer (CIMS) for products with 3-5 O atoms from oxidation of monoterpenes (C10H16). However, while several different types of CIMS instruments (including those using iodide) detect abundant signals also at dimeric species, believed to be primarily ROOR peroxides, no such signals have been observed in the Vocus PTR even though these compounds fulfil the condition of having higher proton affinity than water. More traditional PTR instruments have been limited to volatile molecules as the inlets have not been designed for transmission of easily condensable species. Some newer instruments, like the Vocus PTR, have overcome this limitation but are still not able to detect the full range of functionalized products, suggesting that other limitations need to be considered. One such limitation, well-documented in PTR literature, is the tendency of protonation to lead to fragmentation of some analytes. In this work, we evaluate the potential for PTR to detect dimers and the most oxygenated compounds as these have been shown to be crucial for forming atmospheric aerosol particles. We studied the detection of dimers using a Vocus PTR-TOF in laboratory experiments, as well as through quantum chemical calculations. Only noisy signals of potential dimers were observed during experiments on the ozonolysis of the monoterpene alpha-pinene, while a few small signals of dimeric compounds were detected during the ozonolysis of cyclohexene. During the latter experiments, we also tested varying the pressures and electric fields in the ionization region of the Vocus PTR-TOF, finding that only small improvements were possible in the relative dimer contributions. Calculations for model ROOR and ROOH systems showed that most of these peroxides should fragment partially following protonation. With the inclusion of additional energy from the ion-molecule collisions driven by the electric fields in the ionization source, computational results suggest substantial or nearly complete fragmentation of dimers. Our study thus suggests that while the improved versions of PTR-based mass spectrometers are very powerful tools for measuring hydrocarbons and their moderately oxidized products, other types of CIMS are likely more suitable for the detection of ROOR and ROOH species.
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| 16. |
- Li, Haiyan
(författare)
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Genetic interaction between Type 1 and Type 2 diabetes
- 2002
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- There are two major types of diabetes, type 1 and type 2 diabetes. Similarly characterized by hyperglycaemia and long term micro- and macrovascular complications, type 1 and type 2 diabetes have different underlying pathophysiologic processes. In Scandinavia, type 1 diabetes is common; type 2 diabetes accounts for 85% of all cases with diabetes. There is emerging evidence that type 1 and type 2 diabetes cluster in the same families. 10% of patients diagnosed with type 2 diabetes have autoantibodies against GAD65 (GADabs). The presence of GADabs predicts the development of insulin deficiency in patients with type 2 diabetes (latent autoimmune diabetes in adults, i.e. LADA). The aim of the thesis was to study whether genetic interaction exists between type 1 and type 2 diabetes. In a population-based study in Finland, the prevalence of families with both type 1 and type 2 diabetes (mixed type 1/type 2 diabetes families, or mixed type 1/2) among type 2 diabetes families was 14%. 5% of type 2 diabetic probands had a first-degree relative with type 1 diabetes. Type 2 diabetic patients from the mixed families had more often GADabs (18% vs. 8%; p<0.0001) and HLA DQB1*0302/X genotype (25% vs. 12%; p=0.005) associated with an increased risk for type 1 diabetes than those from the common type 2 diabetes families. However, compared with adult onset type 1 diabetic patients (GADabs, 65%), mixed type 1/2 patients had lower frequencies of GADabs (p<0.0001) and DQB1*02/0302 genotype (4% vs. 27%, p<0.0001) conferring the highest risk for type 1 diabetes. Despite similar age and lipid profile, type 1/2 patients had a more severe beta cell dysfunction, but less features of metabolic syndrome than the common type 2 diabetic patients. Sharing a risk HLA haplotype at the IDDM1 locus with a type 1 diabetic family member could explain most of the genetic influence of type 1 on type 2 diabetes. Insulin gene VNTR at the IDDM2 locus modified the risk conferred by the HLA locus in patients with type 2 diabetes. The data point to a genetic interaction between type 1 and type 2 diabetes that is mediated by the type 1 diabetes susceptibility genes. Combined information from the clinical and genetic studies in the subgroup of type 1/2 patients could have important therapeutic implications for type 2 diabetes.
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| 17. |
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| 18. |
- Li, Haiyan, et al.
(författare)
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Overlooked organic vapor emissions from thawing Arctic permafrost
- 2020
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Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 15:10
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Tidskriftsartikel (refereegranskat)abstract
- Volatile organic compounds (VOCs) play an essential role in climate change and air pollution by modulating tropospheric oxidation capacity and providing precursors for ozone and aerosol formation. Arctic permafrost buries large quantities of frozen soil carbon, which could be released as VOCs with permafrost thawing or collapsing as a consequence of global warming. However, due to the lack of reported studies in this field and the limited capability of the conventional measurement techniques, it is poorly understood how much VOCs could be emitted from thawing permafrost and the chemical speciation of the released VOCs. Here we apply a Vocus proton-transfer-reaction time-of-flight mass spectrometer (PTR-TOF) in laboratory incubations for the first time to examine the release of VOCs from thawing permafrost peatland soils sampled from Finnish Lapland. The warming-induced rapid VOC emissions from the thawing soils were mainly attributed to the direct release of old, trapped gases from the permafrost. The average VOC fluxes from thawing permafrost were four times as high as those from the active layer (the top layer of soil in permafrost terrain). The emissions of less volatile compounds, i.e. sesquiterpenes and diterpenes, increased substantially with rising temperatures. Results in this study demonstrate the potential for substantive VOC releases from thawing permafrost. We anticipate that future global warming could stimulate VOC emissions from the Arctic permafrost, which may significantly influence the Arctic atmospheric chemistry and climate change.
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| 19. |
- Li, Haiyan, et al.
(författare)
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Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 Diabetes
- 2001
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - 1945-7197. ; 86:2, s. 574-582
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Tidskriftsartikel (refereegranskat)abstract
- We assessed the prevalence of families with both type 1 and type 2 diabetes in Finland; and we studied, in patients with type 2 diabetes, the association between a family history of type 1 diabetes, glutamic acid decarboxylase (GAD) antibodies (GADab), and type 1 diabetes-associated human leukocyte antigen (HLA) DQB1-genotypes. Further, in mixed type 1/type 2 diabetes families, we investigated whether sharing an HLA haplotype with a family member with type 1 diabetes influenced the manifestation of type 2 diabetes. Among 695 families ascertained through the presence of more than 1 patient with type 2 diabetes, 100 (14%) also had members with type 1 diabetes. Type 2 diabetic patients from the mixed families had, more often, GADab (18% vs. 8%, P < 0.0001) and DQB1*0302/X genotype (25% vs. 12%, P = 0.005) than patients from families with only type 2 diabetes; but they had a lower frequency of DQB1*02/0302 genotype, compared with adult-onset type 1 patients (4% vs. 27%, P < 0.0001). In the mixed families, the insulin response to oral glucose load was impaired in patients who had HLA class II risk haplotypes, either DR3(17)-DQA1*0501-DQB1*02 or DR4*0401/4-DQA1*0301-DQB1*0302, compared with patients without such haplotypes (P = 0.016). This finding was independent of the presence of GADab. We conclude that type 1 and type 2 diabetes cluster in the same families. A shared genetic background with a patient with type 1 diabetes predisposes type 2 diabetic patients both to autoantibody positivity and, irrespective of antibody positivity, to impaired insulin secretion. The findings support a possible genetic interaction between type 1 and type 2 diabetes mediated by the HLA locus.
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| 20. |
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| 21. |
- Li, Zongbao, et al.
(författare)
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High throughput trapping and arrangement of biological cells using self-assembled optical tweezer
- 2018
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Ingår i: Optics Express. - : OPTICAL SOC AMER. - 1094-4087. ; 26:26, s. 34665-34674
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Tidskriftsartikel (refereegranskat)abstract
- Lately, a fiber-based optical tweezer that traps and arranges the micro/nanoparticles is crucial in practical applications, because such a device can trap the biological samples and drive them to the designated position in a microfluidic system or vessel without harming them. Here, we report a new type of fiber optical tweezer, which can trap and arrange erythrocytes. It is prepared by coating graphene on the cross section of a microfiber. Our results demonstrate that thermal-gradient-induced natural convection flow and thermophoresis can trap the erythrocytes under low incident power, and the optical scattering force can arrange them precisely under higher incident power. The proposed optical tweezer has high flexibility, easy fabrication, and high integration with lab-on-a-chip, and shows considerable potential for application in various fields, such as biophysics, biochemistry, and life sciences.
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| 22. |
- Lin, Li, et al.
(författare)
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An adhesive bonding approach by hydrogen silsesquioxane for silicon carbide-based LED applications
- 2019
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Ingår i: Materials Science in Semiconductor Processing. - : ELSEVIER SCI LTD. - 1369-8001 .- 1873-4081. ; 91
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Tidskriftsartikel (refereegranskat)abstract
- We report an adhesive bonding approach using hydrogen silsesquioxane (HSQ) for silicon carbide (SiC) samples. A hybrid light-emitting diode (LED) was successfully fabricated through bonding a near-ultraviolet (NUV) LED grown on a commercial 4H-SiC substrate to a free-standing boron-nitrogen co-doped fluorescent-SiC epi-layer. The bonding quality and the electrical performance of the hybrid LED device were characterized. Neither voids nor defects were observed which indicates a good bonding quality of the proposed HSQ approach. A strong warm white emission was successfully obtained from the hybrid LED through an electric current injection of 30 mA.
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| 23. |
- Lindgren, Cecilia, et al.
(författare)
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Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
- 2002
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Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 51:5, s. 1609-1617
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Tidskriftsartikel (refereegranskat)abstract
- In an attempt to identify novel susceptibility genes predisposing to early-onset diabetes (EOD), we performed a genome-wide scan using 433 markers in 222 individuals (119 with diabetes) from 29 Scandinavian families with ≥2 members with onset of diabetes ≤45 years. The highest nonparametric linkage (NPL) score, 2.7 (P < 0.01), was observed on chromosome 1p (D1S473/D1S438). Six other regions on chromosomes 3p, 7q, 11q, 18q, 20q, and 21q showed a nominal P value <0.05. Of the EOD subjects in these 29 families, 20% were GAD antibody positive and 68% displayed type 1 diabetes HLA risk alleles (DQB*02 or 0302). Mutations in maturity-onset diabetes of the young (MODY) 1–5 genes and the A3243G mitochondrial DNA mutation were detected by single-strand conformation polymorphism and direct sequencing. To increase homogeneity, we analyzed a subsample of five families with autosomal dominant inheritance of EOD (greater than or equal to two members with age at diagnosis ≤35 years). The highest NPL scores were found on chromosome 1p (D1S438–D1S1665; NPL 3.0; P < 0.01) and 16q (D16S419; NPL 2.9; P < 0.01). After exclusion of three families with MODY1, MODY3, and mitochondrial mutations, the highest NPL scores were observed on chromosomes 1p (D1S438; NPL 2.6; P < 0.01), 3p (D3S1620; NPL 2.2; P < 0.03), 5q (D5S1465; NPL 2.1; P < 0.03), 7q (D7S820; NPL 2.0; P < 0.03), 18q (D18S535; NPL 1.9; P < 0.04), 20q (D20S195; NPL 2.5; P < 0.02), and 21q (D21S1446; NPL 2.2; P < 0.03). We conclude that considerable heterogeneity exists in Scandinavian subjects with EOD; 24% had MODY or maternally inherited diabetes and deafness, and ∼60% were GAD antibody positive or had type 1 diabetes-associated HLA genotypes. Our data also point at putative chromosomal regions, which could harbor novel genes that contribute to EOD.
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| 24. |
- Nie, Wei, et al.
(författare)
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NO at low concentration can enhance the formation of highly oxygenated biogenic molecules in the atmosphere
- 2023
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Ingår i: Nature Communications. - Malmö : IVL Svenska Miljöinstitutet AB. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- The interaction between nitrogen monoxide (NO) and organic peroxy radicals (RO2) greatly impacts the formation of highly oxygenated organic molecules (HOM), the key precursors of secondary organic aerosols. It has been thought that HOM production can be significantly suppressed by NO even at low concentrations. Here, we perform dedicated experiments focusing on HOM formation from monoterpenes at low NO concentrations (0 – 82 pptv). We demonstrate that such low NO can enhance HOM production by modulating the RO2 loss and favoring the formation of alkoxy radicals that can continue to autoxidize through isomerization.These insights suggest that HOM yields from typical boreal forest emissions can vary between 2.5%-6.5%, and HOM formation will not be completely inhibited even at high NO concentrations. Our findings challenge the notion that NO monotonically reduces HOM yields by extending the knowledge of RO2-NO interactions to the low-NO regime. This represents a major advance towards an accurate assessment of HOM budgets, especially in low-NO environments, which prevails in the preindustrial atmosphere, pristine areas, and the upper boundary layer.
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| 25. |
- Qu, Yanhua, 1974-, et al.
(författare)
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The evolution of ancestral and species-specific adaptations in snowfinches at the Qinghai-Tibet Plateau
- 2021
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 10.1073/pnas.2012398118:13, s. e2012398118-e2012398118
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Tidskriftsartikel (refereegranskat)abstract
- Species in a shared environment tend to evolve similar adaptations under the influence of their phylogenetic context. Using snowfinches, a monophyletic group of passerine birds (Passeridae), we study the relative roles of ancestral and species-specific adaptations to an extreme high-elevation environment, the Qinghai–Tibet Plateau. Our ancestral trait reconstruction shows that the ancestral snowfinch occupied high elevations and had a larger body mass than most nonsnowfinches in Passeridae. Subsequently, this phenotypic adaptation diversified in the descendant species. By comparing high-quality genomes from representatives of the three phylogenetic lineages, we find that about 95% of genes under positive selection in the descendant species are different from those in the ancestor. Consistently, the biological functions enriched for these species differ from those of their ancestor to various degrees (semantic similarity values ranging from 0.27 to 0.5), suggesting that the three descendant species have evolved divergently from the initial adaptation in their common ancestor. Using a functional assay to a highly selective gene, DTL, we demonstrate that the nonsynonymous substitutions in the ancestor and descendant species have improved the repair capacity of ultraviolet-induced DNA damage. The repair kinetics of the DTL gene shows a twofold to fourfold variation across the ancestor and the descendants. Collectively, this study reveals an exceptional case of adaptive evolution to high-elevation environments, an evolutionary process with an initial adaptation in the common ancestor followed by adaptive diversification of the descendant species.
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| 26. |
- Sun, Jia, et al.
(författare)
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Optimizing LUT-based inversion of leaf chlorophyll from hyperspectral lidar data : Role of cost functions and regulation strategies
- 2021
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Ingår i: International Journal of Applied Earth Observation and Geoinformation. - : Elsevier BV. - 1569-8432. ; 105
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Tidskriftsartikel (refereegranskat)abstract
- Hyperspectral lidar (HSL) is a novel remote sensing technology that provides spectral information in addition to spatial features. This unprecedented data source leads to new possibilities for monitoring leaf biochemistry. Inversion of physically based radiative transfer models (RTMs) is a popular method for deriving leaf physiological traits due to its robustness and generalization capability. However, owing to the active nature of the HSL system, RTM inversion using the backscattered reflectance spectra may face new problems. Thus, optimization strategies for RTM inversion based on HSL measurements need to be studied. In this paper, several regulation strategies for lookup table (LUT)-based PROSPECT model inversions were explored for an HSL system. In particular, the influences of i) different cost functions, ii) multiple best solutions (1–1000), iii) different LUT sizes (100–100000), and iv) spectral domains for leaf chlorophyll (Chl) retrieval were analyzed. An evaluation against an experimental dataset of rice leaves indicated that i) least-squares estimation (LSE) provided better estimates than seven alternative cost functions when more than 200 solutions were taken; ii) accuracy in leaf Chl retrieval increased up until 200 solutions where after it stabilized; iii) the impact of LUT size became insignificant after 1000; and iv) the red edge was the spectral domain that had the largest impact on the inversion performance. The optimal performance of leaf Chl estimation reached R2 of 0.58 and RMSE of 0.69 between the z-scores from retrieved and measured leaf Chl. The practical application of combining RTM with HSL data will facilitate the detection of leaf-level biochemistry and advance research on terrestrial carbon cycle modeling.
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| 27. |
- Sun, Wei, et al.
(författare)
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Molecular and Biochemical Analysis of Chalcone Synthase from Freesia hybrid in Flavonoid Biosynthetic Pathway
- 2015
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 10:3
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Tidskriftsartikel (refereegranskat)abstract
- Chalcone synthase (CHS) catalyzes the first committed step in the flavonoid biosynthetic pathway. In this study, the cDNA (FhCHS1) encoding CHS from Freesia hybrida was successfully isolated and analyzed. Multiple sequence alignments showed that both the conserved CHS active site residues and CHS signature sequence were found in the deduced amino acid sequence of FhCHS1. Meanwhile, crystallographic analysis revealed that protein structure of FhCHS1 is highly similar to that of alfalfa CHS2, and the biochemical analysis results indicated that it has an enzymatic role in naringenin biosynthesis. Moreover, quantitative real-time PCR was performed to detect the transcript levels of FhCHS1 in flowers and different tissues, and patterns of FhCHS1 expression in flowers showed significant correlation to the accumulation patterns of anthocyanin during flower development. To further characterize the functionality of FhCHS1, its ectopic expression in Arabidopsis thaliana tt4 mutants and Petunia hybrida was performed. The results showed that overexpression of FhCHS1 in tt4 mutants fully restored the pigmentation phenotype of the seed coats, cotyledons and hypocotyls, while transgenic petunia expressing FhCHS1 showed flower color alteration from white to pink. In summary, these results suggest that FhCHS1 plays an essential role in the biosynthesis of flavonoid in Freesia hybrida and may be used to modify the components of flavonoids in other plants.
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| 28. |
- Sun, Xiaoyan, et al.
(författare)
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A cubic DNA nanocage probe for in situ analysis of miRNA-10b in tumor-derived extracellular vesicles
- 2024
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Ingår i: Chemical Communications. - 1364-548X. ; 60, s. 4777-4780
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Tidskriftsartikel (refereegranskat)abstract
- A cubic DNA nanocage probe is able to enter EVs derived from MDA-MB-231 cells and react with miRNA-10b. The probe-loaded EVs were employed to monitor the process of entry of miRNA-10b into MCF-10A cells, allowing visualization of EV-mediated intercellular communication of miRNA-10b between the cancer cells.
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| 29. |
- Weng, Jianping, et al.
(författare)
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Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.
- 2002
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Ingår i: Diabetes Care. - : American Diabetes Association. - 1935-5548 .- 0149-5992. ; 25:1, s. 68-71
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate whether genetic susceptibility to type 1 diabetes or maturity-onset diabetes of the young (MODY) increases susceptibility to gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS: We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes. An oral glucose tolerance test was repeated in 46 women at 1 year postpartum. RESULTS: There was no increase in type 1 diabetes-associated HLA-DQB1 alleles or GAD antibodies when compared with a group of type 2 diabetic patients (n = 82) or healthy control subjects (n = 86). Mutations in known MODY genes were identified in 3 of the 66 subjects (1 MODY2, 1 MODY3, and 1 MODY4). Of the 46 GDM subjects, 2 had diabetes (4%) and 17 had impaired glucose tolerance (IGT) (37%) at 1 year postpartum. Of the two subjects who developed manifest diabetes, one carried a MODY3 mutation (A203H in the hepatocyte nuclear factor-1alpha gene). There was no increase in high-risk HLA alleles or GAD antibodies in the women who had manifest diabetes or IGT at 1 year postpartum. CONCLUSIONS: MODY mutations but not autoimmunity contribute to GDM in Swedish women with a family history of diabetes and increase the risk of subsequent diabetes.
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| 30. |
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| 31. |
- Xie, Yuan, et al.
(författare)
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Wnt signaling regulates MFSD2A-dependent drug delivery through endothelial transcytosis in glioma
- 2023
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Ingår i: Neuro-Oncology. - : Oxford University Press. - 1522-8517 .- 1523-5866. ; 25:6, s. 1073-1084
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Tidskriftsartikel (refereegranskat)abstract
- Background: Systemic delivery of anti-tumor therapeutic agents to brain tumors is thwarted by the blood-brain barrier (BBB), an organotypic specialization of brain endothelial cells (ECs). A failure of pharmacological compounds to cross BBB is one culprit for the dismal prognosis of glioblastoma (GBM) patients. Identification of novel vascular targets to overcome the challenges posed by the BBB in tumors for GBM treatment is urgently needed.Methods: Temozolomide (TMZ) delivery was investigated in CT2A and PDGFB-driven RCAS/tv-a orthotopic glioma models. Transcriptome analysis was performed on ECs from murine gliomas. Mfsd2a deficient, Cav1 deficient, and Mfsd2a EC-specific inducible mice were developed to study the underlying molecular mechanisms.Results: We demonstrated that inhibiting Wnt signaling by LGK974 could increase TMZ delivery and sensitize glioma to chemotherapy in both murine glioma models. Transcriptome analysis of ECs from murine gliomas revealed that Wnt signaling inhibition enhanced vascular transcytosis as indicated by the upregulation of PLVAP and downregulation of MFSD2A. Mfsd2a deficiency in mice enhances TMZ delivery in tumors, whereas constitutive expression of Mfsd2a in ECs suppresses the enhanced TMZ delivery induced by Wnt pathway inhibition in murine glioma. In addition, Wnt signaling inhibition enhanced caveolin-1 (Cav1)-positive caveolae-mediated transcytosis in tumor ECs. Moreover, Wnt signaling inhibitor or Mfsd2a deficiency fails to enhance TMZ penetration in tumors from Cav1-deficient mice.Conclusions: These results demonstrated that Wnt signaling regulates MFSD2A-dependent TMZ delivery through a caveolae-mediated EC transcytosis pathway. Our findings identify Wnt signaling as a promising therapeutic target to improve drug delivery for GBM treatment.
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| 32. |
- Yang, Xigui, et al.
(författare)
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Polarized Raman study of aligned multiwalled carbon nanotubes arrays under high pressure
- 2015
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Ingår i: The Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 119:49, s. 27759-27767
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Tidskriftsartikel (refereegranskat)abstract
- Tuning the intertube interaction and the topological structure of carbon nanotubes by the application of pressure may obviously affect their properties such as optical and electronic properties. However, characterizing such changes is still challenging. Here, we performed polarized Raman scattering studies on aligned multiwalled carbon nanotube arrays (MWNTAs). Unlike researchers from the previous literature, we found that the MWNTAs exhibit a polarization dependence similar to that of isolated single walled carbon nanotubes at ambient conditions. Upon compression, the polarization dependence weakens gradually with increasing pressure up to ∼20 GPa, which has been discussed in terms of pressure-induced enhancement of intertube interactions. At around 20 GPa, the depolarization effect vanishes, which can be explained by the formation of interlinked sp3 bonding in the MWNTAs. Our results show that polarized Raman spectroscopy is an efficient method to explore not only intertube interaction but also structural transition changes in MWNTs, which overcome the difficulty that MWNTs have no obvious fingerprints like those of single-walled carbon nanotubes in the study of structural transformations.
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| 33. |
- Yanlun, Zhu, et al.
(författare)
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An injectable continuous stratified structurally and functionally biomimetic construct for enhancing osteochondral regeneration
- 2019
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Ingår i: Biomaterials. - : Elsevier. - 0142-9612 .- 1878-5905. ; 192, s. 149-158
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Tidskriftsartikel (refereegranskat)abstract
- Osteochondral regeneration with the formation of hyaline cartilage and subchondral bone as well as the integration between the newly formed tissues with the host tissue still remains a great challenge. In this study, a construct containing an injectable continuous stratified scaffold and multiple cell systems was designed for enhancing osteochondral regeneration. Briefly, an injectable sodium alginate(SA)/bioglass (BG) composite hydrogel containing bone marrow stem cells (BMSCs) (SA/BG + BMSCs) was used for subchondral bone regeneration and an injectable thermosensitive SA/agarose (AG) composite hydrogel with co-culture of BMSCs and articular chondrocytes (ACs) (SA/AG + ACs/BMSCs) was applied for articular cartilage regeneration. The continuous SA phase and the stratified structure enable the scaffold to mimic the natural osteochondral structure. In addition, the SA/BG + BMSCs hydrogel could enhance the osteoblast differentiation of BMSCs by upregulating their alkaline phosphatase and collagen I gene expressions, and the SA/AG + ACs/BMSCs hydrogel could promote the chondrocyte differentiation of BMSCs by upregulating their Acan and collagen II gene expressions, which indicated that this stratified scaffold could mimic the natural osteochondral function. Furthermore, after the stratified construct was injected into a rat osteochondral defect model, obvious neonatal articular cartilage tissues and subchondral bone tissues with regular surface and highly integration with normal tissues could be observed. This structural and functional biomimetic construct, together with its proper swelling ratio, could not only stimulate the hyaline cartilage and subchondral bone regeneration in an entire osteochondral unit but also promote the integration between the newly formed tissues and the host tissue.
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| 34. |
- Zhang, Haiyan, et al.
(författare)
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Facile preparation of glutathione-stabilized gold nanoclusters for selective determination of chromium (III) and chromium (VI) in environmental water samples
- 2013
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Ingår i: Analytica Chimica Acta. - : Elsevier BV. - 0003-2670 .- 1873-4324. ; 770, s. 140-146
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Tidskriftsartikel (refereegranskat)abstract
- A novel method for selective determination of Cr(III) and Cr(VI) in environmental water samples was developed based on target-induced fluorescence quenching of glutathione-stabilized gold nanoclusters (GSH-Au NCs). Fluorescent GSH-Au NCs were synthesized by a one-step approach employing GSH as reducing/protecting reagent. It was found that Cr(III) and Cr(VI) showed pH-dependent fluorescence quenching capabilities for GSH-Au NCs, and thus selective determination of Cr(III) and Cr(VI) could be achieved at different pHs. Addition of EDTA was able to effectively eliminate the interferences from other metal ions, leading to a good selectivity for this method. Under optimized conditions, Cr(III) showed a linear range of 25-3800 μg L(-1) and a limit of detection (LOD) of 2.5 μg L(-1). The Cr(VI) ion demonstrated a linear range of 5-500 μg L(-1) and LOD of 0.5 μg L(-1). The run-to-run relative standard deviations (n=5) for Cr(III) and Cr(VI) were 3.9% and 2.8%, respectively. The recoveries of Cr(III) and Cr(VI) in environmental water samples were also satisfactory (76.3-116%). This method, with its simplicity, low cost, high selectivity and sensitivity, could be used as a promising tool for chromium analysis in environmental water samples.
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| 35. |
- Zhang, Yanan, et al.
(författare)
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Identifying discriminative features for diagnosis of Kashin-Beck disease among adolescents
- 2021
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Ingår i: BMC Musculoskeletal Disorders. - : BioMed Central. - 1471-2474. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Diagnosing Kashin-Beck disease (KBD) involves damages to multiple joints and carries variable clinical symptoms, posing great challenge to the diagnosis of KBD for clinical practitioners. However, it is still unclear which clinical features of KBD are more informative for the diagnosis of Kashin-Beck disease among adolescent.METHODS: We first manually extracted 26 possible features including clinical manifestations, and pathological changes of X-ray images from 400 KBD and 400 non-KBD adolescents. With such features, we performed four classification methods, i.e., random forest algorithms (RFA), artificial neural networks (ANNs), support vector machines (SVMs) and linear regression (LR) with four feature selection methods, i.e., RFA, minimum redundancy maximum relevance (mRMR), support vector machine recursive feature elimination (SVM-RFE) and Relief. The performance of diagnosis of KBD with respect to different classification models were evaluated by sensitivity, specificity, accuracy, and the area under the receiver operating characteristic (ROC) curve (AUC).RESULTS: Our results demonstrated that the 10 out of 26 discriminative features were displayed more powerful performance, regardless of the chosen of classification models and feature selection methods. These ten discriminative features were distal end of phalanges alterations, metaphysis alterations and carpals alterations and clinical manifestations of ankle joint movement limitation, enlarged finger joints, flexion of the distal part of fingers, elbow joint movement limitation, squatting limitation, deformed finger joints, wrist joint movement limitation.CONCLUSIONS: The selected ten discriminative features could provide a fast, effective diagnostic standard for KBD adolescents.
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| 36. |
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| 37. |
- Zhong, Jun, et al.
(författare)
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Bio-nano interaction of proteins adsorbed on single-walled carbon nanotubes
- 2009
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Ingår i: Carbon. - : Elsevier BV. - 0008-6223 .- 1873-3891. ; 47:4, s. 967-973
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Tidskriftsartikel (refereegranskat)abstract
- We applied X-ray absorption near edge structure (XANES) spectroscopy to investigate the adsorption of proteins onto single-walled carbon nanotubes (SWCNTs). Specific XANES spectral features such as peptide C=O bonds in proteins were recognized and found to be affected by the corresponding aromatic structure of SWCNTs. Experimental data combined with first-principle calculation of the investigated nano-complex allow the understanding of adsorption mechanism and reveal that an interface interaction occurs leading to precise structural distortions of proteins. The study also demonstrates that XANES is a powerful tool to characterize structural details of proteins at the interface of complex systems.
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