| 1. |
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| 2. |
- Sampson, Joshua N., et al.
(författare)
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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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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
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Tidskriftsartikel (refereegranskat)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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| 3. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Beal, Jacob, et al.
(författare)
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Robust estimation of bacterial cell count from optical density
- 2020
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data.
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| 5. |
- Wang, Zhaoming, et al.
(författare)
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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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| 6. |
- Cho, Yoon Shin, et al.
(författare)
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Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:1
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a three-stage genetic study to identify susceptibility loci for type 2 diabetes (T2D) in east Asian populations. We followed our stage 1 meta-analysis of eight T2D genome-wide association studies (6,952 cases with T2D and 11,865 controls) with a stage 2 in silico replication analysis (5,843 cases and 4,574 controls) and a stage 3 de novo replication analysis (12,284 cases and 13,172 controls). The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. GLIS3, which is involved in pancreatic beta cell development and insulin gene expression, is known for its association with fasting glucose levels. The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. KCNK16 may regulate glucose-dependent insulin secretion in the pancreas. These findings, derived from an east Asian population, provide new perspectives on the etiology of T2D.
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| 7. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 8. |
- Chang, Ching-Wen, et al.
(författare)
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Problematic smartphone use and two types of problematic use of the internet and self-stigma among people with substance use disorders
- 2023
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Ingår i: Addictive Behaviours. - : Elsevier. - 0306-4603 .- 1873-6327. ; 147
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: Guided by the Interaction of Person-Affect-Cognition-Execution (I-PACE) model and a self-stigma framework, this study aimed to investigate relationships between cognitive and affective self-stigma and behavioral self-stigma, problematic use of internet (PUI), and problematic smartphone use (PSU) among people with substance use disorders (SUDs). It also examined mediating roles for affective self-stigma in the relationships between cognitive self-stigma and behavioral self-stigma/PUI/PSU.METHODS: Using a cross-sectional design, 530 participants diagnosed with SUDs in Taiwan were recruited from a psychiatric center in Taiwan. Mediation models were investigated using the Hayes' Process Macro Model 4.RESULTS: Mediation analyses indicated that cognitive self-stigma was directly associated with behavioral self-stigma (p < 0.001), but not with either types of PUI or PSU (p-values ranging from 0.41 to 0.76). Affective self-stigma was directly related to behavioral self-stigma (p < 0.001), two types of PUI, and PSU (β = 0.24-0.30; all p < 0.001); cognitive self-stigma was indirectly associated with behavioral self-stigma (β = 0.53; 95 % bootstrapping CI = 0.46, 0.60), two types of PUI, and PSU (β = 0.20-0.25; 95 % bootstrapping CI = 0.08-0.14, 0.31-0.37) via a mediating effect of affective self-stigma.DISCUSSION AND CONCLUSION: Findings support the I-PACE model in a self-stigma context. The findings also suggest that addressing affective self-stigma may help prevent or reduce behavioral self-stigma, PUI, and PSU among people with SUDs. Longitudinal studies are warranted to investigate over time relationships between self-stigma and PUI/PSU in people with SUDs.
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| 9. |
- Figueroa, Jonine D., et al.
(författare)
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Genome-wide association study identifies multiple loci associated with bladder cancer risk
- 2014
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 23:5, s. 1387-1398
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Tidskriftsartikel (refereegranskat)abstract
- andidate gene and genome-wide association studies (GWAS) have identified 11 independent susceptibility loci associated with bladder cancer risk. To discover additional risk variants, we conducted a new GWAS of 2422 bladder cancer cases and 5751 controls, followed by a meta-analysis with two independently published bladder cancer GWAS, resulting in a combined analysis of 6911 cases and 11 814 controls of European descent. TaqMan genotyping of 13 promising single nucleotide polymorphisms with P < 1 × 10−5 was pursued in a follow-up set of 801 cases and 1307 controls. Two new loci achieved genome-wide statistical significance: rs10936599 on 3q26.2 (P = 4.53 × 10−9) and rs907611 on 11p15.5 (P = 4.11 × 10−8). Two notable loci were also identified that approached genome-wide statistical significance: rs6104690 on 20p12.2 (P = 7.13 × 10−7) and rs4510656 on 6p22.3 (P = 6.98 × 10−7); these require further studies for confirmation. In conclusion, our study has identified new susceptibility alleles for bladder cancer risk that require fine-mapping and laboratory investigation, which could further understanding into the biological underpinnings of bladder carcinogenesis.
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| 10. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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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.
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| 11. |
- 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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| 12. |
- Pang, Kanglei, 1993-, et al.
(författare)
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Redirecting configuration of atomically dispersed selenium catalytic sites for efficient hydrazine oxidation
- 2024
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Ingår i: Matter. - 2590-2393 .- 2590-2385. ; 7:2, s. 655-667
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Tidskriftsartikel (refereegranskat)abstract
- Understanding the reconstruction of surface sites is crucial for gaining insights into the true active sites and catalytic mechanisms. While extensive research has been conducted on reconstruction behaviors of atomically dispersed metallic catalytic sites, limited attention has been paid to non-metallic ones despite their potential catalytic activity comparable or even superior to their noble-metal counterpart. Herein, we report a carbonaceous, atomically dispersed non-metallic selenium catalyst that displayed exceptional catalytic activity in the hydrazine oxidation reaction (HzOR) in alkaline media, outperforming the noble-metal Pt catalysts. In situ X-ray absorption spectroscopy (XAS) and Fourier transform infrared spectroscopy revealed that the pristine SeC4 site pre-adsorbs an ∗OH ligand, followed by HzOR occurring on the other side of the OH–SeC4. Theoretical calculations proposed that the pre-adsorbed ∗OH group pulls electrons from the Se site, resulting in a more positively charged Se and a higher polarity of Se–C bonds, thereby enhancing surface reactivity toward HzO/R.
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| 13. |
- Thrift, Aaron P., et al.
(författare)
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Mendelian randomization study of height and risk of colorectal cancer
- 2015
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Ingår i: International Journal of Epidemiology. - : Oxford University Press (OUP). - 0300-5771 .- 1464-3685. ; 44:2, s. 662-672
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Tidskriftsartikel (refereegranskat)abstract
- Background: For men and women, taller height is associated with increased risk of all cancers combined. For colorectal cancer (CRC), it is unclear whether the differential association of height by sex is real or is due to confounding or bias inherent in observational studies. We performed a Mendelian randomization study to examine the association between height and CRC risk. Methods: To minimize confounding and bias, we derived a weighted genetic risk score predicting height (using 696 genetic variants associated with height) in 10 226 CRC cases and 10 286 controls. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (95% CI) for associations between height, genetically predicted height and CRC. Results: Using conventional methods, increased height (per 10-cm increment) was associated with increased CRC risk (OR = 1.08, 95% CI = 1.02-1.15). In sex-specific analyses, height was associated with CRC risk for women (OR = 1.15, 95% CI = 1.05-1.26), but not men (OR = 0.98, 95% CI = 0.92-1.05). Consistent with these results, carrying greater numbers of (weighted) height-increasing alleles (per 1-unit increase) was associated with higher CRC risk for women and men combined (OR = 1.07, 95% CI = 1.01-1.14) and for women (OR = 1.09, 95% CI = 1.01-1.19). There was weaker evidence of an association for men (OR = 1.05, 95% CI = 0.96-1.15). Conclusion: We provide evidence for a causal association between height and CRC for women. The CRC-height association for men remains unclear and warrants further investigation in other large studies.
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| 14. |
- Wu, Xifeng, et al.
(författare)
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Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.
- 2009
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:9, s. 991-5
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus.
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| 15. |
- Xu, Jian, et al.
(författare)
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Sediment PAH source apportionment in the Liaohe River using the ME2approach : A comparison to the PMF model
- 2016
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 553, s. 164-171
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Tidskriftsartikel (refereegranskat)abstract
- Environmental contaminant source apportionment is essential for pollution management and control. This study analysed surface sediment samples for 16 priority polycyclic aromatic hydrocarbons (PAHs). PAH sources were identified by two receptor models, which included positive matrix factorization (PMF) and multilinear engine 2 (ME2). Three PAH sources in the Liaohe River sediments were identified by PM', including traffic, coke oven and coal combustion. The ME2 model apportioned one additional source. The two models yielded excellent correlation coefficients between the measured and predicted PAH concentrations. Traffic emission was the primary PAH source associated with the Liaohe River sediments, with estimated PMF contributions of 58% in May and 63' in September. Coke oven (19%-25%) and coal combustion (13%-18,0) were the other two major PAH sources. For ME2, gasoline and diesel were separated: accounted for 14% in May and 16% in September; and 53' in May and 48% in September. This study marks the first application of the ME2 model to study sediment contaminant source apportionment. The methodology can potentially be applied to other aquatic environment contaminants.
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| 16. |
- Ai, Chenxiang, et al.
(författare)
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One-pot construction of nitrogen-rich polymeric ionic porous networks for effective CO2 capture and fixation
- 2022
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Ingår i: Polymer Chemistry. - : Royal Society of Chemistry (RSC). - 1759-9954 .- 1759-9962. ; 13:1, s. 121-129
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Tidskriftsartikel (refereegranskat)abstract
- Facile preparation of ionic porous networks (IPNs) with large and permanent porosity is highly desirable for CO2 capture and transformation but remains a challenge. Here we report a one-pot base-mediated construction of nitrogen-rich IPNs through a combination of nucleophilic substitution and quaternisation chemistry from H-imidazole. This strategy, as proven by the model reactions of 1H-imidazole or 1-methyl-1H-imidazole with cyanuric chloride, allows for fine regulation of porosity and physicochemical properties, leading to nitrogen-rich IPNs featuring abundant ionic units and radicals. The as-prepared networks, termed IPN-CSUs, efficiently capture CO2 (80.1 cc g−1 at 273 K/1 bar) with an ideal CO2/N2 selectivity of 139.7. They can also effectively catalyse the cycloaddition reaction between CO2 and epoxides with high yields of up to 99% under mild conditions (0.1 MPa, 298 K), suggesting their possible applications in the fields of both selective molecular separation and conversion. Unlike the previously known strategies generally involving single coupling chemistry, our strategy combining two coupling routes in one pot appears to be unique and potentially applicable to other building blocks.
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| 17. |
- Ariyawansa, Hiran A., et al.
(författare)
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Fungal diversity notes 111–252—taxonomic and phylogenetic contributions to fungal taxa
- 2015
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Ingår i: Fungal diversity. - : Springer Science and Business Media LLC. - 1560-2745 .- 1878-9129. ; 75, s. 27-274
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Tidskriftsartikel (refereegranskat)abstract
- This paper is a compilation of notes on 142 fungal taxa, including five new families, 20 new genera, and 100 new species, representing a wide taxonomic and geographic range. The new families, Ascocylindricaceae, Caryosporaceae and Wicklowiaceae (Ascomycota) are introduced based on their distinct lineages and unique morphology. The new Dothideomycete genera Pseudomassariosphaeria (Amniculicolaceae), Heracleicola, Neodidymella and P s e u d o m i c ros p h a e r i o p s i s ( D id y m e l l a c e a e ) , P s e u d o p i t h o m y c e s ( D i d y m o s p h a e r i a c e a e ) , Brunneoclavispora, Neolophiostoma and Sulcosporium (Halotthiaceae), Lophiohelichrysum (Lophiostomataceae), G a l l i i c o l a , Popul o c re s c e n t i a a nd Va g i c o l a (Phaeosphaeriaceae), Ascocylindrica (Ascocylindricaceae), E l o n g a t o p e d i c e l l a t a ( R o u s s o e l l a c e a e ) , Pseudoasteromassaria (Latoruaceae) and Pseudomonodictys (Macrodiplodiopsidaceae) are introduced. The newly described species of Dothideomycetes (Ascomycota) are Pseudomassariosphaeria bromicola (Amniculicolaceae), Flammeascoma lignicola (Anteagloniaceae), Ascocylindrica marina (Ascocylindricaceae) , Lembosia xyliae (Asterinaceae), Diplodia crataegicola and Diplodia galiicola ( B o t r yosphae r i a cea e ) , Caryospor a aquat i c a (Caryosporaceae), Heracleicola premilcurensis and Neodi dymell a thai landi cum (Didymellaceae) , Pseudopithomyces palmicola (Didymosphaeriaceae), Floricola viticola (Floricolaceae), Brunneoclavispora bambusae, Neolophiostoma pigmentatum and Sulcosporium thailandica (Halotthiaceae), Pseudoasteromassaria fagi (Latoruaceae), Keissleriella dactylidicola (Lentitheciaceae), Lophiohelichrysum helichrysi (Lophiostomataceae), Aquasubmersa japonica (Lophiotremataceae) , Pseudomonodictys tectonae (Macrodiplodiopsidaceae), Microthyrium buxicola and Tumidispora shoreae (Microthyriaceae), Alloleptosphaeria clematidis, Allophaeosphaer i a c y t i s i , Allophaeosphae r i a subcylindrospora, Dematiopleospora luzulae, Entodesmium artemisiae, Galiicola pseudophaeosphaeria, Loratospora(Basidiomycota) are introduced together with a new genus Neoantrodiella (Neoantrodiellaceae), here based on both morphology coupled with molecular data. In the class Agaricomycetes, Agaricus pseudolangei, Agaricus haematinus, Agaricus atrodiscus and Agaricus exilissimus (Agaricaceae) , Amanita m e l l e i a l b a , Amanita pseudosychnopyramis and Amanita subparvipantherina (Amanitaceae), Entoloma calabrum, Cora barbulata, Dictyonema gomezianum and Inocybe granulosa (Inocybaceae), Xerocomellus sarnarii (Boletaceae), Cantharellus eucalyptorum, Cantharellus nigrescens, Cantharellus tricolor and Cantharellus variabilicolor (Cantharellaceae), Cortinarius alboamarescens, Cortinarius brunneoalbus, Cortinarius ochroamarus, Cortinarius putorius and Cortinarius seidlii (Cortinariaceae), Hymenochaete micropora and Hymenochaete subporioides (Hymenochaetaceae), Xylodon ramicida (Schizoporaceae), Colospora andalasii (Polyporaceae), Russula guangxiensis and Russula hakkae (Russulaceae), Tremella dirinariae, Tremella graphidis and Tremella pyrenulae (Tremellaceae) are introduced. Four new combinations Neoantrodiella gypsea, Neoantrodiella thujae (Neoantrodiellaceae), Punctulariopsis cremeoalbida, Punctulariopsis efibulata (Punctulariaceae) are also introduced here for the division Basidiomycota. Furthermore Absidia caatinguensis, Absidia koreana and Gongronella koreana (Cunninghamellaceae), Mortierella pisiformis and Mortierella formosana (Mortierellaceae) are newly introduced in the Zygomycota, while Neocallimastix cameroonii and Piromyces irregularis (Neocallimastigaceae) ar e i n t roduced i n the Neocallimastigomycota. Reference specimens or changes in classification and notes are provided for Alternaria ethzedia, Cucurbitaria ephedricola, Austropleospora, Austropleospora archidendri, Byssosphaeria rhodomphala, Lophiostoma caulium, Pseudopithomyces maydicus, Massariosphaeria, Neomassariosphaeria and Pestalotiopsis montellica.
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| 18. |
- Berndt, Sonja, I, et al.
(författare)
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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
- 2022
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Ingår i: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:12, s. 2835-2844
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Tidskriftsartikel (refereegranskat)abstract
- Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtypes and discover novel loci shared among subtypes, we analyzed data from eight genome-wide association studies within the InterLymph Consortium, including 10,629 cases and 9505 controls. We utilized Association analysis based on SubSETs (ASSET) to discover loci for subsets of NHL subtypes and evaluated shared heritability across the genome using Genome-wide Complex Trait Analysis (GCTA) and polygenic risk scores. We discovered 17 genome-wide significant loci (P < 5 × 10−8) for subsets of NHL subtypes, including a novel locus at 10q23.33 (HHEX) (P = 3.27 × 10−9). Most subset associations were driven primarily by only one subtype. Genome-wide genetic correlations between pairs of subtypes varied broadly from 0.20 to 0.86, suggesting substantial heterogeneity in the extent of shared heritability among subtypes. Polygenic risk score analyses of established loci for different lymphoid malignancies identified strong associations with some NHL subtypes (P < 5 × 10−8), but weak or null associations with others. Although our analyses suggest partially shared heritability and biological pathways, they reveal substantial heterogeneity among NHL subtypes with each having its own distinct germline genetic architecture.
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| 19. |
- Berndt, Sonja I., et al.
(författare)
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P = 2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P = 1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P = 3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P = 1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P<5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P = 7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P = 2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.
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| 20. |
- Brazel, David M., et al.
(författare)
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Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use
- 2019
-
Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 85:11, s. 946-955
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Smoking and alcohol use have been associated with common genetic variants in multiple loci. Rare variants within these loci hold promise in the identification of biological mechanisms in substance use. Exome arrays and genotype imputation can now efficiently genotype rare nonsynonymous and loss of function variants. Such variants are expected to have deleterious functional consequences and to contribute to disease risk.METHODS: We analyzed ∼250,000 rare variants from 16 independent studies genotyped with exome arrays and augmented this dataset with imputed data from the UK Biobank. Associations were tested for five phenotypes: cigarettes per day, pack-years, smoking initiation, age of smoking initiation, and alcoholic drinks per week. We conducted stratified heritability analyses, single-variant tests, and gene-based burden tests of nonsynonymous/loss-of-function coding variants. We performed a novel fine-mapping analysis to winnow the number of putative causal variants within associated loci.RESULTS: Meta-analytic sample sizes ranged from 152,348 to 433,216, depending on the phenotype. Rare coding variation explained 1.1% to 2.2% of phenotypic variance, reflecting 11% to 18% of the total single nucleotide polymorphism heritability of these phenotypes. We identified 171 genome-wide associated loci across all phenotypes. Fine mapping identified putative causal variants with double base-pair resolution at 24 of these loci, and between three and 10 variants for 65 loci. Twenty loci contained rare coding variants in the 95% credible intervals.CONCLUSIONS: Rare coding variation significantly contributes to the heritability of smoking and alcohol use. Fine-mapping genome-wide association study loci identifies specific variants contributing to the biological etiology of substance use behavior.
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| 21. |
- Burtscher, Verena, et al.
(författare)
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Structural basis for hyperpolarization-dependent opening of human HCN1 channel
- 2024
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1
-
Tidskriftsartikel (refereegranskat)abstract
- Hyperpolarization and cyclic nucleotide (HCN) activated ion channels are critical for the automaticity of action potentials in pacemaking and rhythmic electrical circuits in the human body. Unlike most voltage-gated ion channels, the HCN and related plant ion channels activate upon membrane hyperpolarization. Although functional studies have identified residues in the interface between the voltage-sensing and pore domain as crucial for inverted electromechanical coupling, the structural mechanisms for this unusual voltage-dependence remain unclear. Here, we present cryo-electron microscopy structures of human HCN1 corresponding to Closed, Open, and a putative Intermediate state. Our structures reveal that the downward motion of the gating charges past the charge transfer center is accompanied by concomitant unwinding of the inner end of the S4 and S5 helices, disrupting the tight gating interface observed in the Closed state structure. This helix-coil transition at the intracellular gating interface accompanies a concerted iris-like dilation of the pore helices and underlies the reversed voltage dependence of HCN channels.
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| 22. |
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| 23. |
- Chang, Jian, 1990-, et al.
(författare)
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MXene/Cellulose Composite Cloth for Integrated Functions (if-Cloth) in Personal Heating and Steam Generation
- 2024
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Ingår i: Advanced fiber materials. - 2524-7921. ; 6:1, s. 252-263
-
Tidskriftsartikel (refereegranskat)abstract
- Given the abundant solar light available on our planet, it is promising to develop an advanced fabric capable of simultaneously providing personal thermal management and facilitating clean water production in an energy-efficient manner. In this study, we present the fabrication of a photothermally active, biodegradable composite cloth composed of titanium carbide MXene and cellulose, achieved through an electrospinning method. This composite cloth exhibits favorable attributes, including chemical stability, mechanical performance, structural flexibility, and wettability. Notably, our 0.1-mm-thick composite cloth (RC/MXene IV) raises the temperature of simulated skin by 5.6 degrees C when compared to a commercially available cotton cloth, which is five times thicker under identical ambient conditions. Remarkably, the composite cloth (RC/MXene V) demonstrates heightened solar light capture efficiency (87.7%) when in a wet state instead of a dry state. Consequently, this cloth functions exceptionally well as a high-performance steam generator, boasting a superior water evaporation rate of 1.34 kg m(-2) h(-1) under one-sun irradiation (equivalent to 1000 W m(-2)). Moreover, it maintains its performance excellence in solar desalination processes. The multifunctionality of these cloths opens doors to a diverse array of outdoor applications, including solar-driven water evaporation and personal heating, thereby enriching the scope of integrated functionalities for textiles.
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| 24. |
- Chang, Jian, 1990-
(författare)
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Processing 2D nanomaterials into inorganic-polymer composite films and fibers with well-defined properties
- 2023
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- 2D materials such as graphene, graphene oxide (GO), reduced graphene oxide (rGO) and MXene, possess unique properties, e.g., high carrier mobilities, mechanical flexibility, good thermal conductivity, and high optical and UV adsorption. They are potentially applicable in the fields of electronics, optoelectronics, catalysts, energy storage facilities, sensors, solar cells, lithium batteries, and so on. Normally, weak interactions and irregular packing or stacking of 2D layers may adversely offset or weaken to some extent their 2D effects such as mechanical and electrical properties at a macroscale. In this regard, it is required to spatially organize 2D materials into macroscopic forms of a well-defined shape (e.g. fibers, films, or 3D structures) in a way that can simultaneously preserve favorable 2D properties and functions shown at the nanoscale, and facilitate their compatibility with the state-of-the-art industrial processes. In my thesis, different types of 2D materials, here GO, rGO and MXene together with polymers were rationally assembled into functional composite materials. The synergistic molecular crosslinking strategy was utilized and controlled in such composite materials for the sake of better performance. My thesis mainly involves four parts: (1) Tough and strong GO composite films via a polycationitrile approach. The interface between GO nanosheets was reinforced via an intermolecular covalent crosslinking approach called “polycationitrile chemistry”. As a result, the mechanical performance of the as-prepared GO-based composite films was enhanced and maintained even at an extremely high relative humidity of 98%.(2) rGO-poly(ionic liquid) (PIL) composite films with high mechanical performance. The rGO/PIL composite films were designed and fabricated, where the synergistic supramolecular interactions between PIL and rGO layer enable high electrical conductivity and favorable mechanical properties.(3) Regenerated cellulose (RC)/MXene composite nanofibers for personal heating management. I harnessed a biodegradable RC-based fibrous matrix to bond with inorganic MXene nanoflakes via electrospinning method. Via hybridization, the as-formed RC/MXene nanofibers present a promotion of mechanical performance and photothermal conversion capability. As a personal heating cloth, it realizes energy-saving outdoor thermoregulatory.(4) RC/MXene solar absorber for solar-driven interfacial water evaporation. The RC/MXene composite nanofibers integrate considerable merits of excellent mechanical performance, wettability, and fast steam generation rate. The RC/MXene solar absorber offers significant values for the practical application of solar-driven steam generation.
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| 25. |
- Chang, Jian, et al.
(författare)
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Reduced Graphene Oxide-Poly (Ionic Liquid) Composite Films of High Mechanical Performance
- 2021
-
Ingår i: Frontiers in materials. - : Frontiers Media SA. - 2296-8016. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- Graphene and its derivatives are a classical group of two-dimensional (2D) building blocks possessing excellent mechanical and/or electrical properties in favor of preparing flexible electronic devices. Natural materials, such as nacre, provide inspiration and an exciting guideline for assembling 2D nanosheets into functional nanocomposites. In this context, despite recent advance, methods to assemble graphene-derived nanosheets into nanocomposites with the integrated enhancement of mechanical properties and electrical conductivity are eagerly pursued. Here, a rational design has been proposed and demonstrated, which utilizes synergistic supramolecular interactions between a polymeric additive and reduced graphene-oxide nanosheets to fabricate exceptional, integrated, strong, and tough nanocomposite films with high electrical conductivity. Such materials can be applied in areas such as, aerospace, artificial muscle, tissue engineering, and flexible electronics.
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| 26. |
- Chang, Jian, et al.
(författare)
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Smart Sand by Surface Engineering : Toward Controllable Oil/Water Separation
- 2021
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Ingår i: Industrial & Engineering Chemistry Research. - : American Chemical Society (ACS). - 0888-5885 .- 1520-5045. ; 60:26, s. 9475-9481
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Tidskriftsartikel (refereegranskat)abstract
- Sand, an abundant resource from the nature, is a promising candidate for oil/water separation. Herein, raw sand was designed with switchable surface wettability to enable recyclability and versatility in practical oil/water separation. The smart sand was fabricated by grafting pH-responsive poly(4-vinylpyridine) (P4VP) and oleophilic/hydrophobic octadecyltrimethoxysilane (OTS) onto its surface. The decorated sand can be used as the oil sorbent for controllable oil sorption and desorption in response to different pHs, as well as a filter to selectively separate either oil or water on demand. This novel design offers an intelligent, low-cost, large-scale, and highly efficient route to potentially settle the issues of industrial oily wastewater and oil spill.
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| 27. |
- Chang, Jian, 1990-, et al.
(författare)
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Tailor-Made White Photothermal Fabrics : A Bridge between Pragmatism and Aesthetic
- 2023
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Ingår i: Advanced Materials. - : Wiley. - 0935-9648 .- 1521-4095. ; 35:41
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Tidskriftsartikel (refereegranskat)abstract
- Maintaining human thermal comfort in the cold outdoors is crucial for diverse outdoor activities, e.g., sports and recreation, healthcare, and special occupations. To date, advanced clothes are employed to collect solar energy as a heat source to stand cold climates, while their dull dark photothermal coating may hinder pragmatism in outdoor environments and visual sense considering fashion. Herein, tailor-made white webs with strong photothermal effect are proposed. With the embedding of cesium–tungsten bronze (CsxWO3) nanoparticles (NPs) as additive inside nylon nanofibers, these webs are capable of drawing both near-infrared (NIR) and ultraviolet (UV) light in sunlight for heating. Their exceptional photothermal conversion capability enables 2.5–10.5 °C greater warmth than that of a commercial sweatshirt of six times greater thickness under different climates. Remarkably, this smart fabric can increase its photothermal conversion efficiency in a wet state. It is optimal for fast sweat or water evaporation at human comfort temperature (38.5 °C) under sunlight, and its role in thermoregulation is equally important to avoid excess heat loss in wilderness survival. Obviously, this smart web with considerable merits of shape retention, softness, safety, breathability, washability, and on-demand coloration provides a revolutionary solution to realize energy-saving outdoor thermoregulation and simultaneously satisfy the needs of fashion and aesthetics.
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| 28. |
- Chang, Jian, et al.
(författare)
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Ultratough and ultrastrong graphene oxide hybrid films via a polycationitrile approach
- 2021
-
Ingår i: Nanoscale Horizons. - : Royal Society of Chemistry (RSC). - 2055-6764 .- 2055-6756. ; 6:4, s. 341-347
-
Tidskriftsartikel (refereegranskat)abstract
- Graphene oxide (GO) is a classic two dimensional (2D) building block that can be used to develop high-performance materials for numerous applications, particularly in the energy and environmental fields. Currently, the precise assembly of GO nanosheets into macroscopic nanohybrids of superior strength and toughness is desirable, and faces challenges and trade-offs. Herein, we exploited the freshly established polycationitrile method as a powerful molecular crosslinking strategy to engineer ultratough and ultrastrong GO/polymer hybrid films, in which a covalent triazine-based network was constructed in a mild condition to reinforce the interface between GO nanosheets. The tensile strength and toughness reached 585 +/- 25 MPa and 14.93 +/- 1.09 MJ m(-3), respectively, which, to the best of our knowledge, are the current world records in all GO-based hybrid films. As an added merit of the tailor-made polymer crosslinker, the high mechanical performance can be maintained in large part at an extremely high relative humidity of 98%. This emerging interface-engineering approach paves a new avenue to produce integrated strong-and-tough 2D nanohybrid materials that are useful in aerospace, artificial muscle, energy harvesting, tissue engineering and more.
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| 29. |
- Cheng, Wan-Lin, et al.
(författare)
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Quality of life and care burden among family caregivers of people with severe mental illness : mediating effects of self-esteem and psychological distress
- 2022
-
Ingår i: BMC Psychiatry. - : BioMed Central (BMC). - 1471-244X. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Family caregivers are important allies for healthcare providers in facilitating the recovery process among people with mental illness (PWMI). The present study examined the factors associated with quality of life (QoL) among family caregivers of PWMI. Methods A multi-center cross-sectional survey was conducted. Family caregivers of people with schizophrenia, major depressive disorder, and bipolar disorder were recruited using convenience sampling. A survey assessing their QoL, depression, anxiety, and self-esteem was completed with self-rated psychometric scales including the Rosenberg Self-Esteem Scale, Caregiver Burden Inventory, Taiwanese Depression Questionnaire, Beck Anxiety Inventory, and World Health Organization Quality of Life Instrument Short Form. A mediation model was constructed with QoL as the dependent variable, care burden as the independent variable, and psychological distress (including depression and anxiety) with self-esteem as mediating variables. Results Family caregivers of people with schizophrenia had worse QoL compared with counterparts of people with major depression and bipolar disorder. The sociodemographic of both caregivers and PWMI had less impact on QoL when psychological factors were considered. Caregivers with lower self-esteem, higher levels of psychological distress, and heavier care burdens had poorer QoL. Care burden had a significant total effect on QoL. Both self-esteem and psychological distress were significant mediators. Conclusion The findings indicated that caregivers' psychological health and care burden influenced their QoL. Interventions that target family caregivers' self-esteem and psychological distress may attenuate the effect from care burden, and further improve their QoL.
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| 30. |
- Cho, Chang-woo, et al.
(författare)
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Evidence for the Fulde-Ferrell-Larkin-Ovchinnikov state in bulk NbS2
- 2021
-
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 12
-
Tidskriftsartikel (refereegranskat)abstract
- We present measurements of the magnetic torque, specific heat and thermal expansion of the bulk transition metal dichalcogenide (TMD) superconductor NbS2 in high magnetic fields, with its layer structure aligned strictly parallel to the field using a piezo rotary positioner. The upper critical field of superconducting TMDs in the 2D form is known to be dramatically enhanced by a special form of Ising spin orbit coupling. This Ising superconductivity is very robust to the Pauli paramagnetic effect and can therefore exist beyond the Pauli limit for superconductivity. We find that superconductivity beyond the Pauli limit still exists in bulk single crystals of NbS2 for a precisely parallel field alignment. However, the comparison of our upper critical field transition line with numerical simulations rather points to the development of a Fulde-Ferrell-Larkin-Ovchinnikov state above the Pauli limit as a cause. This is also consistent with the observation of a magnetic field driven phase transition in the thermodynamic quantities within the superconducting state near the Pauli limit. Superconductivity is often destroyed under magnetic field larger than a critical value called Pauli limit. Here, the authors report superconductivity beyond the Pauli limit in bulk single crystals of NbS2, suggesting the development of a Fulde-Ferrell-Larkin-Ovchinnikov state.
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| 31. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
-
Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 32. |
- Erzurumluoglu, A. Mesut, et al.
(författare)
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Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
- 2020
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Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:10, s. 2392-2409
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Tidskriftsartikel (refereegranskat)abstract
- Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10-8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10-8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10-3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.
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| 33. |
- Feng, Bo, et al.
(författare)
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Mechanisms of N2O Formation from Char Combustion
- 1996
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Ingår i: Energy & Fuels. - 1520-5029 .- 0887-0624. ; 10:1, s. 203-208
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes an experimental study on N2O and NOx emission from char combustion. Experiments have been carried out in a fixed bed reactor in the temperature range of 973−1323 K. Oxygen concentrations for combustion, temperature, and char type have been found to have strong effects on both N2O and NOx emissions. With an increasing temperature, N2O reaches a peak at 1073 K and then decreases with temperature. At the same time NOx remains nearly the same. When oxygen concentration increases, the concentration of N2O increases and NOx first increases and then decreases. The char with higher nitrogen content emits more N2O, indicating that nitrogen oxides come from char-N. When NO is included in the inlet gases, much more N2O is produced from char combustion. This suggests that the reaction of NO + O2 + char is the main pathway for N2O formation. Another pathway, i.e., the homogeneous oxidation of HCN from the gasfication of char, seems to be important as well.
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| 34. |
- Feng, Bo, et al.
(författare)
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Nitrogen oxides emission from a circulating fluidized bed combustor
- 1998
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Ingår i: International Journal of Energy Research. - 1099-114X .- 0363-907X. ; 20:11, s. 1015-1025
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Tidskriftsartikel (refereegranskat)abstract
- Experiments were carried out in a pilot-scale circulating fluidized bed (CFB) coal combustor to investigate the mechanism of N,O formation, nitrogen oxides (including NO, and N,O) emission and the effect of temperature, excess air ratio, recirculation ratio, etc. The concentrations of nitrous oxide and nitric oxide were measured along the height of the CFB furnace. N,O concentration increased with height, and in the exit of the combustor N,O reached the highest level. NO,, however, decreased with height, showing the inverse trend compared with N,O. The N,O emission decreased sharply with the rise of temperature at the bottom of the combustor; at the same time, the NO, concentration increased.
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| 35. |
- Figueroa, Jonine D., et al.
(författare)
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Genome-wide interaction study of smoking and bladder cancer risk
- 2014
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Ingår i: Carcinogenesis. - : Oxford University Press. - 0143-3334 .- 1460-2180. ; 35:8, s. 1737-1744
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Tidskriftsartikel (refereegranskat)abstract
- Bladder cancer is a complex disease with known environmental and genetic risk factors. We performed a genome-wide interaction study (GWAS) of smoking and bladder cancer risk based on primary scan data from 3002 cases and 4411 controls from the National Cancer Institute Bladder Cancer GWAS. Alternative methods were used to evaluate both additive and multiplicative interactions between individual single nucleotide polymorphisms (SNPs) and smoking exposure. SNPs with interaction P values < 5 x 10(-5) were evaluated further in an independent dataset of 2422 bladder cancer cases and 5751 controls. We identified 10 SNPs that showed association in a consistent manner with the initial dataset and in the combined dataset, providing evidence of interaction with tobacco use. Further, two of these novel SNPs showed strong evidence of association with bladder cancer in tobacco use subgroups that approached genome-wide significance. Specifically, rs1711973 (FOXF2) on 6p25.3 was a susceptibility SNP for never smokers [combined odds ratio (OR) = 1.34, 95% confidence interval (CI) = 1.20-1.50, P value = 5.18 x 10(-7)]; and rs12216499 (RSPH3-TAGAP-EZR) on 6q25.3 was a susceptibility SNP for ever smokers (combined OR = 0.75, 95% CI = 0.67-0.84, P value = 6.35 x 10-7). In our analysis of smoking and bladder cancer, the tests for multiplicative interaction seemed to more commonly identify susceptibility loci with associations in never smokers, whereas the additive interaction analysis identified more loci with associations among smokers-including the known smoking and NAT2 acetylation interaction. Our findings provide additional evidence of gene-environment interactions for tobacco and bladder cancer.
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| 36. |
- Figueroa, Jonine D., et al.
(författare)
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Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry
- 2016
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 25:6, s. 1203-1214
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Tidskriftsartikel (refereegranskat)abstract
- Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 × 10−6), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10−11) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10−10). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region—the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r2 = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case–case P ≤ 0.02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer.
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| 37. |
- Frazier-Wood, Alexis C., et al.
(författare)
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
- 2016
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Ingår i: Nature Genetics. - : Nature Research (part of Springer Nature). - 1061-4036 .- 1546-1718. ; 48, s. 624-
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Tidskriftsartikel (refereegranskat)abstract
- Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (vertical bar(p) over cap vertical bar approximate to 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
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| 38. |
- Fu, Yi-Ping, et al.
(författare)
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The 19q12 Bladder Cancer GWAS Signal : Association with Cyclin E Function and Aggressive Disease
- 2014
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Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 74:20, s. 5808-5818
-
Tidskriftsartikel (refereegranskat)abstract
- A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell-cycle protein. We performed genetic fine-mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r(2) >= 0.7) associated with increased bladder cancer risk. From this group, we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWASs, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele OR = 1.18 [95% confidence interval (CI), 1.09-1.27, P = 4.67 x 10(-5)] versus OR = 1.01 (95% CI, 0.93-1.10, P = 0.79) for nonaggressive disease, with P = 0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (P = 0.013) and, independently, with each rs7257330-A risk allele (P-trend = 0.024). Overexpression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E overexpression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models.
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| 39. |
- Gao, Lingfeng, et al.
(författare)
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Emerging applications of MXenes for photodetection : Recent advances and future challenges
- 2022
-
Ingår i: Materials Today. - : Elsevier. - 1369-7021 .- 1873-4103. ; 61, s. 169-190
-
Tidskriftsartikel (refereegranskat)abstract
- The development and applications of transition metal carbides, nitrides and carbonitrides, commonly denoted as MXenes, have during the last few years rapidly expanded in various technological fields owing to their unique and controllable properties. These materials exhibit competing performance comparing with traditional materials and have created numerous opportunities for technology markets. Taking the advantage of excellent optoelectronic features, MXenes have been utilized for the construction of photodetectors with various structures and unique functionalities. While the appli-cation of MXenes in this area can be traced back to 2016, we have during the recent three years witnessed a dramatic development of MXene-based photodetectors, calling for a timely review to guideline their future direction. In this work, synthetic strategies of pristine MXenes are briefly introduced and their properties are discussed focusing on the optoelectronic aspects that are fundamental for the photoelectric conversion. Recent advances of MXene-based photodetectors are comprehensively summarized based on different types of MXenes and innovative designs of device construction. Finally, we provide perspectives for future challenges and opportunities of MXene-based photodetectors, which may enlighten their further development.
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| 40. |
- Héraly, Frédéric, 1995-, et al.
(författare)
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Capacitive CO2 sensor made of aminated cellulose nanofibrils : development and optimization
- 2024
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Ingår i: New Journal of Chemistry. - 1144-0546 .- 1369-9261. ; 48:14, s. 6064-6070
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Tidskriftsartikel (refereegranskat)abstract
- CO2 sensors are very important; however, their performance is limited by stability and selectivity. This study unveils a capacitive CO2 sensor with a dielectric layer comprised of amine-functionalized cellulose nanofibril (CNF) foam, significantly enhanced by the addition of 1,8-diazabicyclo[5.4.0]undec-7-ene (DBU). The core innovation of this research lies in the strategic use of CNF-based foam, which leads to a substantial increase in sensor capacitance, setting a new standard in CO2 monitoring technologies. The sensor showcases exceptional performance under ambient conditions, with marked improvements in sensitivity towards CO2. The advancements are attributed to the chemisorption properties of the aminated CNFs combined with the DBU enhancement, facilitating more effective CO2 capture. By integrating these materials, we present a sensor that opens new avenues for environmental monitoring, healthcare diagnostics, and industrial safety, establishing a new benchmark for capacitive CO2 sensors in efficiency and environmental sustainability.
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| 41. |
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| 42. |
- Héraly, Frédéric, 1995-, et al.
(författare)
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Humidity-responsive fiber actuators based on cellulose nanofibrils
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Fiber actuators, particularly valuable in soft robotics and environmental sensing, are at the forefront of smart materials and materials innovation. Torsional and tensile biofiber actuators, notable for their cost-effectiveness and biodegradability, mark a critical gap in the development of next-generation functional materials and devices. To address this gap, this study showcases moisture-responsive actuators made from cellulose nanofibrils (CNFs). It introduces a pioneering torsional actuator, leveraging the hydrophilic nature of CNFs filaments produced through wet-spinning processes. These robust filaments exhibit a mechanical strength of 237.0 MPa, and are twisted to form the high-performance torsional actuator. This torsional actuator demonstrates rapid rotations, achieving up to 1180 revolutions per minute (rpm) within merely 10 seconds of moisture exposure and being durable across multiple cycles. The research here further explores critical factors such as filament morphology and twist density, which significantly impact the performance of this torsional actuator. Additionally, a sheath-run tensile actuator is unveiled, ingeniously combining a moisture-sensitive CNFs layer with a supercoiled nylon core to enhance structural support.
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| 43. |
- Hu, Chang-Kang, et al.
(författare)
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Native Conditional iSWAP Operation with Superconducting Artificial Atoms
- 2023
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Ingår i: Physical Review Applied. - 2331-7019. ; 20:3
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Tidskriftsartikel (refereegranskat)abstract
- Controlling the flow of quantum information is a fundamental task for quantum computers, which is unfeasible to realize on classical devices. Coherent devices, which can process quantum states are thus required to route the quantum states that encode information. In this paper we demonstrate experimentally the smallest quantum transistor with a superconducting quantum processor, which is composed of a collector qubit, an emitter qubit, and a coupler (transistor gate). The interaction strength between the collector and emitter qubits is controlled by the frequency and state of the coupler, effectively implementing a quantum switch. Through the coupler-state-dependent Heisenberg (inherent) interaction between the qubits, a single-step (native) conditional iSWAP operation can be applied. To this end, we find that it is useful to take into consideration the higher-energy level for achieving a native and high-fidelity transistor operation. By reconstructing the quantum process tomography, we obtain an operation fidelity of 92.36% when the transistor gate is open (iSWAP implementation) and 95.23% in the case of closed gate (identity gate implementation). The architecture has strong potential in quantum information processing applications with superconducting qubits.
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| 44. |
- Hu, Chang-Kang, et al.
(författare)
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Optimal charging of a superconducting quantum battery
- 2022
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Ingår i: Quantum Science and Technology. - : IOP Publishing. - 2058-9565. ; 7:4
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Tidskriftsartikel (refereegranskat)abstract
- Quantum batteries are miniature energy storage devices and play a very important role in quantum thermodynamics. In recent years, quantum batteries have been extensively studied, but limited in theoretical level. Here we report the experimental realization of a quantum battery based on superconducting qutrit. Our model explores dark and bright states to achieve stable and powerful charging processes, respectively. Our scheme makes use of the quantum adiabatic brachistochrone, which allows us to speed up the battery ergotropy injection. Due to the inherent interaction of the system with its surrounding, the battery exhibits a self-discharge, which is shown to be described by a supercapacitor-like self-discharging mechanism. Our results paves the way for proposals of new superconducting circuits able to store extractable work for further usage.
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| 45. |
- Huyghe, Jeroen R., et al.
(författare)
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Discovery of common and rare genetic risk variants for colorectal cancer
- 2019
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:1, s. 76-
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Tidskriftsartikel (refereegranskat)abstract
- To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 x 10(-8), bringing the number of known independent signals for CRC to similar to 100. New signals implicate lower-frequency variants, Kruppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.
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| 46. |
- Jacobs, Kevin B, et al.
(författare)
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Detectable clonal mosaicism and its relationship to aging and cancer.
- 2012
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Ingår i: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 44:6, s. 651-658
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Tidskriftsartikel (refereegranskat)abstract
- In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
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| 47. |
- Jian, Jhang-Jie, et al.
(författare)
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Investigation of Multiple-Mesa-Nanochannel Array GaN-Based MOSHEMTs with Al2O3 Gate Dielectric Layer
- 2021
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Ingår i: ECS Journal of Solid State Science and Technology. - : The Electrochemical Society. - 2162-8777 .- 2162-8769. ; 10:5
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Tidskriftsartikel (refereegranskat)abstract
- In this work, an atomic layer deposition system was used to deposit Al2O3 high-k dielectric film as the gate insulator of GaN-based metal-oxide-semiconductor high-electron mobility transistors (MOSHEMTs). By using the Al2O3 gate dielectric layer, compared to planar channel structure, the direct current, high frequency, and flicker noise performances were improved in the GaN-based MOSHEMTs with fin-nanochannel array. For the GaN-based 80-nm-wide fin-nanochannel array MOSHEMTs, they exhibited superior performances of maximum extrinsic transconductance of 239 mS mm(-1), threshold voltage of -0.4 V, unit gain cutoff frequency of 7.3 GHz, maximum oscillation frequency of 14.1 GHz, normalized noise power of 2.5 x 10(-14) Hz(-1), and Hooge's coefficient of 1.4 x 10(-6). The enhanced performances were attributed to the features of fin-nanochannel array of better gate control capability, enhanced pinch-off effect, and better heat dissipation driven by lateral heat flow within the space between fin-channels.
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| 48. |
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| 49. |
- Jiang, Ping-Li, et al.
(författare)
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Controllable degradation of medical magnesium by electrodeposited composite films of mussel adhesive protein (Mefp-1) and chitosan
- 2016
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Ingår i: Journal of Colloid and Interface Science. - : Academic Press. - 0021-9797 .- 1095-7103. ; 478, s. 246-255
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Tidskriftsartikel (refereegranskat)abstract
- To control the degradation rate of medical magnesium in body fluid environment, biocompatible films composed of Mussel Adhesive Protein (Mefp-1) and chitosan were electrodeposited on magnesium surface in cathodic constant current mode. The compositions and structures of the films were characterized by atomic force microscope (AFM), scanning electron microscope (SEM) and infrared reflection absorption spectroscopy (IRAS). And the corrosion protection performance was investigated using electrochemical measurements and immersion tests in simulated body fluid (Hanks' solution). The results revealed that Mefp-1 and chitosan successfully adhered on the magnesium surface and formed a protective film. Compared with either single Mefp-1 or single chitosan film, the composite film of chitosan/Mefp-1/chitosan (CPC (chitosan/Mefp-1/chitosan)) exhibited lower corrosion current density, higher polarization resistance and more homogenous corrosion morphology and thus was able to effectively control the degradation rate of magnesium in simulated body environment. In addition, the active attachment and spreading of MC3T3-E1 cells on the CPC film coated magnesium indicated that the CPC film was significantly able to improve the biocompatibility of the medical magnesium.
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| 50. |
- Kato, Norihiro, et al.
(författare)
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Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation
- 2015
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 47:11, s. 1282-1293
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Tidskriftsartikel (refereegranskat)abstract
- We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood pressure (P = 3.9 × 10−11 to 5.0 × 10−21). The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. The new and known genetic variants predict increased left ventricular mass, circulating levels of NT-proBNP, and cardiovascular and all-cause mortality (P = 0.04 to 8.6 × 10−6). Our results provide new evidence for the role of DNA methylation in blood pressure regulation.
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