| 1. |
- Marouli, Eirini, et al.
(författare)
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Rare and low-frequency coding variants alter human adult height
- 2017
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 2. |
- Qi, Jing, et al.
(författare)
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Levels, distribution, childhood exposure assessment, and influencing factors of polybrominated diphenyl ethers (PBDEs) in household dust from nine cities in China
- 2023
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 874
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Tidskriftsartikel (refereegranskat)abstract
- Household dust is an important source of premature exposure to polybrominated diphenyl ethers (PBDEs), especially for children. In this onsite study, 246 dust samples were collected from 224 households in nine Chinese cities during 2018–2019. Questionnaires were administered to explore the association between household-related information and PBDEs in household dust. The median concentration of Σ12PBDEs in household dust from 9 cities was 138 ng/g (94–227 ng/g), with the arithmetic mean of 240 ± 401 ng/g. Among the nine cities, the highest median concentration of Σ12PBDEs in household dust was found in Mianyang (295.57 ng/g), while the lowest was found in Wuxi (23.15 ng/g). BDE-71 was the most dominant congener, ranging from 42.08 % to 98.15 % of the 12 PBDE congeners among 9 cities. Three potential sources for the indoor environment were Penta-BDE, Octa-BDE commercial products, and photolytic bromine from Deca-BDEs based on the largest contribution (81.24 %). Under the moderate exposure scenario, the exposure levels through ingestion and dermal absorption for children were 7.30 × 10−1 ng/kg BW/day and 3.26 × 10−2 ng/kg BW/day, respectively. Temperature, CO2, years of residence, income, family size, household size, use of computers, heating, use of insecticide, and use of humidifiers were influential factors for PBDE concentrations in household dust. Based on the evidence of the correlation between PBDEs and these household parameters, it can be applied to reduce PBDE concentrations in household dust, which is a basis for controlling PBDEs pollution in Chinese households and protecting population health.
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| 3. |
- Turcot, Valerie, et al.
(författare)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 4. |
- Wang, Xinqi, et al.
(författare)
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Levels, distribution, sources and children health risk of PAHs in residential dust : A multi-city study in China
- 2023
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 862
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Tidskriftsartikel (refereegranskat)abstract
- Background: Polycyclic aromatic hydrocarbons (PAHs) are typical residential pollutants mainly from biofuel combustion that impose inevitable risk to children. The PAHs in residential dust is universal in most Chinese households with an obvious public health concern.Methods: In this observational study, a total of 235 residential dust samples from 8 Chinese cities (Panjin, Shijiazhuang, Lanzhou, Luoyang, Xi'an, Wuxi, Mianyang, and Shenzhen) were collected from April 2018 to March 2019, which were extracted and analyzed for 16 priority PAHs by HPLC/FD-UV. Diagnostic ratios, hierarchical clustering analysis and principal component analysis were applied simultaneously for source apportionments. Incremental lifetime cancer risk was employed to estimate children's health risks based on the assumed exposure scenarios. Spearman correlation, Mann-Whitney U test, Kruskal-Wallis H test and Partial Least Squares were used to screen the factors affecting the concentration of PAHs in residential dust.Results: The median concentration of ∑16PAHs in residential dust from 8 cities was 44.11 μg/g (0.04 - 355.79 μg/g). ∑16PAHs were found both higher in dust samples in heating season and from downwind households only in Mianyang (p < 0.05). The leading two sources of PAHs were combustion processes and automobile exhaust emissions based on four principal components that accounted for 74.29 % of the total variance. Indoor air environmental factors, household characteristics, and residents' behavioral lifestyles may be the influencing factors of residential dust PAHs. The carcinogenic risk of children aged 0 - 5 years, under the moderate exposure level of PAHs in residential dust, exceeded the acceptable level (10−5 - 10−4 for dermal contact and 10−6 - 10−5 for ingestion).Conclusions: There was serious PAHs pollution in residential dust under actual living conditions in eight cities across China. More evidence-based measures were needed to control PAHs pollution to safeguard children's health according to appointed sources and influencing factors in residential dust.
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| 5. |
- Miao, Yanfeng, et al.
(författare)
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Stable and bright formamidinium-based perovskite light-emitting diodes with high energy conversion efficiency
- 2019
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Solution-processable perovskites show highly emissive and good charge transport, making them attractive for low-cost light-emitting diodes (LEDs) with high energy conversion efficiencies. Despite recent advances in device efficiency, the stability of perovskite LEDs is still a major obstacle. Here, we demonstrate stable and bright perovskite LEDs with high energy conversion efficiencies by optimizing formamidinium lead iodide films. Our LEDs show an energy conversion efficiency of 10.7%, and an external quantum efficiency of 14.2% without outcoupling enhancement through controlling the concentration of the precursor solutions. The device shows low efficiency droop, i.e. 8.3% energy conversion efficiency and 14.0% external quantum efficiency at a current density of 300 mA cm(-2), making the device more efficient than state-of-the-art organic and quantum-dot LEDs at high current densities. Furthermore, the half-lifetime of device with benzylamine treatment is 23.7 hr under a current density of 100 mA cm(-2), comparable to the lifetime of near-infrared organic LEDs.
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| 6. |
- Wang, Chao, et al.
(författare)
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Characterization and sources of childhood PAEs exposure from residential airborne dust in China cities
- 2025
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Ingår i: Journal of Environmental Sciences(China). - : Elsevier. - 1001-0742 .- 1878-7320. ; 152, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- To explore the multicenter characteristics of endocrine-like phthalate esters (PAEs) in household dust and propose effective control strategies for global indoor public health. An on-site observational investigation was conducted in nine Chinese cities from 2018 to 2019. A total of 246 household dust samples were collected and analyzed for ten PAE congeners using Gas Chromatography-Mass Spectrometry (GC-MS). Questionnaires were used to gather information on building conditions, indoor behaviors, and ventilation habits. In residential dust from the nine cities, the total concentrations of the ten PAE congeners (∑PAEs) ranged from 0.921 to 29097.297 µg/g. Dicyclohexyl phthalate (DCHP) and di (2-ethylhexyl) phthalate (DEHP) were the dominant congeners in ∑PAEs. Childhood exposure to PAEs through dust ingestion was four orders of magnitude higher than through inhalation, with a carcinogenic risk of 5.47 × 10−6 for DEHP exposure in household dust. Higher ∑PAEs concentrations were associated with higher temperature, double glazing, wall paint usage, television and computer use, and indoor plant growth. This multicenter on-site investigation confirmed PAE pollution characteristics and uncovered the inacceptable risk of daily DEHP exposure in household dust under real living conditions. Effective mitigation measures based on household-related information, residential characteristics, decoration materials, and lifestyle should be taken to build a healthy household environment.
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| 7. |
- Wang, Mengmeng, et al.
(författare)
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Statistical analysis of whistler precursors upstream of foreshock transient shocks : MMS observations
- 2024
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Ingår i: Geophysical Research Letters. - : American Geophysical Union (AGU). - 0094-8276 .- 1944-8007. ; 51:8
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Tidskriftsartikel (refereegranskat)abstract
- Using the high-time-resolution data from the Magnetospheric Multiscale mission, precursor waves upstream of foreshock transient (FT) shocks are statistically investigated using the four-spacecraft timing method. The wave frequencies and wave vectors determined in the plasma rest frame (PRF) are shown to follow the cold plasma dispersion relation for whistler waves. Combining with the feature of the right-hand polarization in the PRF, the precursors are identified as whistler-mode waves around the lower hybrid frequency. The occurrence of whistler precursors is independent of the Alfvén Mach number and the FT shock normal angle. More importantly, all the whistler precursors have group velocities pointing upstream in the shock frame, suggesting the dispersive radiation to be a possible generation mechanism. The study improves the understanding of not only the whistler precursors but also the overall FT shock dynamics.
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| 8. |
- Zhang, Liang, et al.
(författare)
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Deep Learning for Additive Screening in Perovskite Light-Emitting Diodes
- 2022
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Ingår i: Angewandte Chemie International Edition. - : WILEY-V C H VERLAG GMBH. - 1433-7851 .- 1521-3773. ; 61:37
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Tidskriftsartikel (refereegranskat)abstract
- Additive engineering with organic molecules is of critical importance for achieving high-performance perovskite optoelectronic devices. However, experimentally finding suitable additives is costly and time consuming, while conventional machine learning (ML) is difficult to predict accurately due to the limited experimental data available in this relatively new field. Here, we demonstrate a deep learning method that can predict the effectiveness of additives in perovskite light-emitting diodes (PeLEDs) with a high accuracy up to 96 % by using a small dataset of 132 molecules. This model can maximize the information of the molecules and significantly mitigate the duplicated problem that usually happened with previous models in ML for molecular screening. Very high efficiency PeLEDs with a peak external quantum efficiency up to 22.7 % can be achieved by using the predicated additive. Our work opens a new avenue for further boosting the performance of perovskite optoelectronic devices.
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| 9. |
- Zhao, Mengmeng, et al.
(författare)
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The Effect of Flow Rate of a Short Sleeve Air Ventilation Garment on Torso Thermal Comfort in a Moderate Environment
- 2022
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Ingår i: Fibers and Polymers. - : Springer Science and Business Media LLC. - 1229-9197 .- 1875-0052. ; 23:2, s. 546-553
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Tidskriftsartikel (refereegranskat)abstract
- In recent years, air ventilation garments (AVG) have been reported effective to improve thermal comfort. In this study, an AVG incorporated with small fans was investigated on torso thermal comfort in moderate environment (Ta=25 °C, RH=50 %). Eight female subjects walked on the treadmill at a speed of 4 km·h−1 for 30 min and then rested for another 30 min. During the whole test protocol, the AVG was worn in three conditions of flow rates to examine which flow rate was the best choice to keep thermal comfort: fans off with no air ventilation (a controlled condition, CON), low flow rate (12 l/s, LOW) and high flow rate (20 l/s, HIGH). Results showed that HIGH made significantly lowered local skin temperature of the abdomen, scapula and the lower back (p<0.05). The mean torso skin temperature in CON, LOW and HIGH in the last 5 min in the exercising stage was 32.3, 30.2 and 29.2 °C, respectively and it was 32.1, 29.5 and 28.2 °C, respectively in the resting stage. HIGH significantly mitigated thermal sensation in the 40 and 50th min (p<0.05), whereas it produced cool and unpleasant thermal sensation in the resting stage. In the whole test scenario, LOW produced the best torso thermal comfort. The low flow rate of ventilation (12 l/s) should be recommend and used in such a moderate environment to maintain torso thermal comfort.
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| 10. |
- Zou, Wei, et al.
(författare)
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Minimising efficiency roll-off in high-brightness perovskite light-emitting diodes
- 2018
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Efficiency roll-off is a major issue for most types of light-emitting diodes (LEDs), and its origins remain controversial. Here we present investigations of the efficiency roll-off in perovskite LEDs based on two-dimensional layered perovskites. By simultaneously measuring electroluminescence and photoluminescence on a working device, supported by transient photoluminescence decay measurements, we conclude that the efficiency roll-off in perovskite LEDs is mainly due to luminescence quenching which is likely caused by non-radiative Auger recombination. This detrimental effect can be suppressed by increasing the width of quantum wells, which can be easily realized in the layered perovskites by tuning the ratio of large and small organic cations in the precursor solution. This approach leads to the realization of a perovskite LED with a record external quantum efficiency of 12.7%, and the efficiency remains to be high, at approximately 10%, under a high current density of 500 mA cm(-2).
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