| 1. |
-
- 2019
-
Tidskriftsartikel (refereegranskat)
|
|
| 2. |
- Flannick, Jason, et al.
(författare)
-
Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
-
Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
-
Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
|
|
| 3. |
- Fuchsberger, Christian, et al.
(författare)
-
The genetic architecture of type 2 diabetes
- 2016
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
-
Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
|
|
| 4. |
- Manning, Alisa, et al.
(författare)
-
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
- 2017
-
Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
-
Tidskriftsartikel (refereegranskat)abstract
- To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
|
|
| 5. |
- Tong, Yang, et al.
(författare)
-
Progress of the key materials for organic solar cells
- 2020
-
Ingår i: Science in China Series B. - Beijing, China : SCIENCE PRESS. - 1674-7291 .- 1869-1870. ; 63:6, s. 758-765
-
Forskningsöversikt (refereegranskat)abstract
- Organic solar cells have attracted academic and industrial interests due to the advantages like lightweight, flexibility and roll-to-roll fabrication. Nowadays, 18% power conversion efficiency has been achieved in the state-of-the-art organic solar cells. The recent rapid progress in organic solar cells relies on the continuously emerging new materials and device fabrication technologies, and the deep understanding on film morphology, molecular packing and device physics. Donor and acceptor materials are the key materials for organic solar cells since they determine the device performance. The past 25 years have witnessed an odyssey in developing high-performance donors and acceptors. In this review, we focus on those star materials and milestone work, and introduce the molecular structure evolution of key materials. These key materials include homopolymer donors, D-A copolymer donors, A-D-A small molecular donors, fullerene acceptors and nonfullerene acceptors. At last, we outlook the challenges and very important directions in key materials development.
|
|
| 6. |
|
|
| 7. |
- Jia, Xue, et al.
(författare)
-
CsPb(IxBr1-x)(3) solar cells
- 2019
-
Ingår i: Science Bulletin. - : ELSEVIER. - 2095-9273. ; 64:20, s. 1532-1539
-
Tidskriftsartikel (refereegranskat)abstract
- Owing to its nice performance, low cost, and simple solution-processing, organic-inorganic hybrid perovskite solar cell (PSC) becomes a promising candidate for next-generation high-efficiency solar cells. The power conversion efficiency (PCE) has boosted from 3.8% to 25.2% over the past ten years. Despite the rapid progress in PCE, the device stability is a key issue that impedes the commercialization of PSCs. Recently, all-inorganic cesium lead halide perovskites have attracted much attention due to their better stability compared with their organic-inorganic counterpart. In this progress report, we summarize the properties of CsPb(IxBr1-x)(3) and their applications in solar cells. The current challenges and corresponding solutions are discussed. Finally, we share our perspectives on CsPb(IxBr1-x)(3) solar cells and outline possible directions to further improve the device performance. (C) 2019 Science China Press. Published by Elsevier B.V. and Science China Press. All rights reserved.
|
|
| 8. |
- Kanoni, Stavroula, et al.
(författare)
-
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
-
Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
-
Tidskriftsartikel (refereegranskat)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.
|
|
| 9. |
- Lensink, Marc F., et al.
(författare)
-
Impact of AlphaFold on structure prediction of protein complexes: The CASP15-CAPRI experiment
- 2023
-
Ingår i: Proteins. - : WILEY. - 0887-3585 .- 1097-0134.
-
Tidskriftsartikel (refereegranskat)abstract
- We present the results for CAPRI Round 54, the 5th joint CASP-CAPRI protein assembly prediction challenge. The Round offered 37 targets, including 14 homodimers, 3 homo-trimers, 13 heterodimers including 3 antibody-antigen complexes, and 7 large assemblies. On average similar to 70 CASP and CAPRI predictor groups, including more than 20 automatics servers, submitted models for each target. A total of 21 941 models submitted by these groups and by 15 CAPRI scorer groups were evaluated using the CAPRI model quality measures and the DockQ score consolidating these measures. The prediction performance was quantified by a weighted score based on the number of models of acceptable quality or higher submitted by each group among their five best models. Results show substantial progress achieved across a significant fraction of the 60+ participating groups. High-quality models were produced for about 40% of the targets compared to 8% two years earlier. This remarkable improvement is due to the wide use of the AlphaFold2 and AlphaFold2-Multimer software and the confidence metrics they provide. Notably, expanded sampling of candidate solutions by manipulating these deep learning inference engines, enriching multiple sequence alignments, or integration of advanced modeling tools, enabled top performing groups to exceed the performance of a standard AlphaFold2-Multimer version used as a yard stick. This notwithstanding, performance remained poor for complexes with antibodies and nanobodies, where evolutionary relationships between the binding partners are lacking, and for complexes featuring conformational flexibility, clearly indicating that the prediction of protein complexes remains a challenging problem.
|
|
| 10. |
- Li, X. F., et al.
(författare)
-
A Centiparsec-scale Compact Radio Core in the Nearby Galaxy M60
- 2024
-
Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 960:1
-
Tidskriftsartikel (refereegranskat)abstract
- M60, an elliptical galaxy located 16.5 Mpc away, has an active nucleus with a very low luminosity and an extremely low accretion rate. Its central supermassive black hole (SMBH) has a mass of M BH ∼ 4.5 × 109 M ⊙ and a Schwarzschild radius corresponding to R S ∼ 5.4 μas. To investigate the nature of its innermost radio nucleus, data from the Very Long Baseline Array (VLBA) at 4.4 and 7.6 GHz were reduced. The VLBA images reveal a compact component with total flux densities of ∼20 mJy at both frequencies, a size of ≤0.27 mas (99.7% confidence level), about 0.022 pc (50 R S) at 7.6 GHz, and a brightness temperature of ≥6 × 109 K. This suggests that the observed centiparsec-scale compact core could be attributed to a nonthermal jet base or an advection-dominated accretion flow (ADAF) with nonthermal electrons. The extremely compact structure also supports the presence of an SMBH in the center. Our results indicate that M60 is a promising target for broadband very long baseline interferometry observations at millimeter wavelengths to probe ADAF scenarios and tightly constrain the potential photon ring (about 28 μas) around its SMBH.
|
|
| 11. |
- Li, Zhao, et al.
(författare)
-
Non-uniform seasonal warming regulates vegetation greening and atmospheric CO2 amplification over northern lands
- 2018
-
Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 13:12
-
Tidskriftsartikel (refereegranskat)abstract
- The enhanced vegetation growth by climate warming plays a pivotal role in amplifying the seasonal cycle of atmospheric CO2 at northern lands (>50° N) since 1960s. However, the correlation between vegetation growth, temperature and seasonal amplitude of atmospheric CO2 concentration have become elusive with the slowed increasing trend of vegetation growth and weakened temperature control on CO2 uptake since late 1990s. Here, based on in situ atmospheric CO2 concentration records from the Barrow observatory site, we found a slowdown in the increasing trend of the atmospheric CO2 amplitude from 1990s to mid-2000s. This phenomenon was associated with the paused decrease in the minimum CO2 concentration ([CO2]min), which was significantly correlated with the slowdown of vegetation greening and growing-season length extension. We then showed that both the vegetation greenness and growing-season length were positively correlated with spring but not autumn temperature over the northern lands. Furthermore, such asymmetric dependences of vegetation growth upon spring and autumn temperature cannot be captured by the state-of-art terrestrial biosphere models. These findings indicate that the responses of vegetation growth to spring and autumn warming are asymmetric, and highlight the need of improving autumn phenology in the models for predicting seasonal cycle of atmospheric CO2 concentration.
|
|
| 12. |
- Lu, Zhaohui, et al.
(författare)
-
Microseismic Monitoring of Hydraulic Fracture Propagation and Seismic Risks in Shale Reservoir with a Steep Dip Angle
- 2022
-
Ingår i: Natural Resources Research. - : Springer Nature. - 1520-7439 .- 1573-8981. ; 31:5, s. 2973-2993
-
Tidskriftsartikel (refereegranskat)abstract
- Hydraulic fracturing is an essential technique to increase reservoir permeability and enhance the production of shale gas. When the dip angle is steep and geological condition is complex, hydraulic fractures may behave complexly, and research on this topic is critical for the shale gas industry. This paper reports a case study of hydraulic fracturing in a shale reservoir with a steep dip angle. We monitored pump data, including the injection rate and fluid pressure. Microseismic monitoring was also used to record the seismic events and monitor the hydraulic fracture propagation. Our results validated that microseismic monitoring is a feasible technique to monitor the hydraulic fracture propagation in shale reservoirs with steep dip angles. Moreover, the variation in depth of shale reservoir induces significant alternation of local in situ stress states, in which cases the fracture propagation pathway is more complex, and where microseismic monitoring is necessary to acquire the hydraulic fracture distribution. Besides, all sound sources, including quarries and rivers, should be eliminated during microseismic station arrangement to improve accuracy of microseismic signals. Moreover, the relationship between the maximum magnitude of seismic event and fluid injection volume was validated further in this study. Finally, unexpected faults and aquifers may affect hydraulic fracture propagation due to the steep dip angle of the target shale reservoir. Thus, a comprehensive geological survey is essential for better hydraulic fracturing design. Our results provide first-hand in situ hydraulic fracturing data and provide important implications for shale gas development, especially for those shale reservoirs with steep dip angles.
|
|
| 13. |
- Qiu, Hailong, et al.
(författare)
-
Intense ultraviolet upconversion emission from water-dispersed colloidal YF3:Yb3+/Tm3+ rhombic nanodisks
- 2014
-
Ingår i: Nanoscale. - : Royal Society of Chemistry (RSC). - 2040-3364 .- 2040-3372. ; 6:2, s. 753-757
-
Tidskriftsartikel (refereegranskat)abstract
- Intense ultraviolet upconversion emission has been observed in water-dispersed uniform rhombic nanodisks (side length of similar to 14 nm and thickness of similar to 2.5 nm) of YF3 co-doped with Yb3+ sensitizer and Tm3+ activator ions, when excited at similar to 980 nm.
|
|
| 14. |
- Takeuchi, Fumihiko, et al.
(författare)
-
Interethnic analyses of blood pressure loci in populations of East Asian and European descent
- 2018
-
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 9:1
-
Tidskriftsartikel (refereegranskat)abstract
- Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.
|
|
| 15. |
- Wang, Zhida, et al.
(författare)
-
Association between diabetes or antidiabetic therapy and lung cancer : A meta-analysis
- 2013
-
Ingår i: Journal of Diabetes Investigation. - : Wiley-Blackwell. - 2040-1116 .- 2040-1124. ; 4:6, s. 659-666
-
Tidskriftsartikel (refereegranskat)abstract
- Aims/IntroductionDiabetes can increase the risk of cancers at several sites, but the association between diabetes and lung cancer remains unclear. We aimed to provide the quantitative estimates for the association between diabetes or antidiabetic treatment and lung cancer risk in the present meta-analysis. Materials and MethodsCohort studies were identified by searching the PubMed database (January 1960 through October 2012) and manually assessing the cited references in the retrieved articles. Study-specific relative risks (RRs) and 95% confidence intervals (CIs) were estimated using a random-effects model. Study quality was assessed using the Newcastle-Ottawa scale. ResultsA total of 19 cohort studies were included in the present meta-analysis. Of these, 14 studies focused on the association between diabetes and lung cancer incidence, and seven studies focused on the association between antidiabetic treatment and lung cancer incidence. Compared with non-diabetic individuals, diabetic patients do not have an increased risk of lung cancer (RR=1.04, 95% CI 0.87-1.24). The association between diabetes and lung cancer remained not statistically significant in subgroup analysis stratified by study characteristics, study quality, diabetes ascertainment or important confounders. A null association between insulin or biguanides therapy and lung cancer risk was found. However, the diabetic patients receiving thiazolidinedione (TZD) treatment had a 20% reduced risk of lung cancer than those without TZD treatment. ConclusionsNo association between diabetes and lung cancer risk was found. However, TZD treatment might reduce lung cancer risk in diabetic patients.
|
|
| 16. |
- Weinstein, John N., et al.
(författare)
-
The cancer genome atlas pan-cancer analysis project
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:10, s. 1113-1120
-
Tidskriftsartikel (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.
|
|
