| 1. |
- 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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| 2. |
- Liu, Yanrong, et al.
(författare)
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Cascade utilization of lignocellulosic biomass to high-value products
- 2019
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Ingår i: Green Chemistry. - : Royal Society of Chemistry. - 1463-9262 .- 1463-9270. ; 21:13, s. 3499-3535
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Tidskriftsartikel (refereegranskat)abstract
- Lignocellulosic biomass is a potential sustainable feedstock to replace fossil fuels. However, the complex structure of biomass makes it difficult to convert into high-value products. Utilization of lignocellulosic biomass in a green and effective way is of great significance for sustainable development. Based on the analysis of different options, we proposed that cascade utilization according to its composition, characteristics, and nature is the best way to utilize the lignocellulosic biomass. To promote the cascade utilization of lignocellulosic biomass, this article provides a review of the latest research results from the aspect of cascade utilization of lignocellulosic biomass covering the whole chain from pretreatment to high-value products, and the research on the non-conventional pretreatments including microwave irradiation, supercritical fluids, ultrasonic irradiation, electric field, hydrodynamic cavitation, and ionic liquids are presented in detail and evaluated by 4 proposed levels, and the newly developed high-value applications were further overviewed for lignin (carbon/graphene/carbon nano-tubes, dye dispersants, bioplastics, and aerogels), cellulose (cellulose-based ionic liquids, functional composites, adsorbent materials, carbon, and aerogels), and hemicellulose (films and pharmaceutical carriers), respectively. Finally, perspectives on the future research on the cascade utilization of lignocellulosic biomass are highlighted.
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| 3. |
- Ma, Jiantao, et al.
(författare)
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A Peripheral Blood DNA Methylation Signature of Hepatic Fat Reveals a Potential Causal Pathway for Nonalcoholic Fatty Liver Disease
- 2019
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Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 68:5, s. 1073-1083
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Tidskriftsartikel (refereegranskat)abstract
- Nonalcoholic fatty liver disease (NAFLD) is a risk factor for type 2 diabetes (T2D). We aimed to identify the peripheral blood DNA methylation signature of hepatic fat. We conducted epigenome-wide association studies of hepatic fat in 3,400 European ancestry (EA) participants and in 401 Hispanic ancestry and 724 African ancestry participants from four population-based cohort studies. Hepatic fat was measured using computed tomography or ultrasound imaging and DNA methylation was assessed at >400,000 cytosine-guanine dinucleotides (CpGs) in whole blood or CD14+ monocytes using a commercial array. We identified 22 CpGs associated with hepatic fat in EA participants at a false discovery rate <0.05 (corresponding P = 6.9 x 10(-6)) with replication at Bonferroni-corrected P < 8.6 x 10(-4). Mendelian randomization analyses supported the association of hypomethylation of cg08309687 (LINC00649) with NAFLD (P = 2.5 x 10(-4)). Hypomethylation of the same CpG was also associated with risk for new-onset T2D (P = 0.005). Our study demonstrates that a peripheral blood-derived DNA methylation signature is robustly associated with hepatic fat accumulation. The hepatic fat-associated CpGs may represent attractive biomarkers for T2D. Future studies are warranted to explore mechanisms and to examine DNA methylation signatures of NAFLD across racial/ethnic groups.
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| 4. |
- Feng, Ruizhi, et al.
(författare)
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Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
- 2016
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Ingår i: The New England journal of medicine. - 1533-4406. ; 374:3, s. 223-232
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Tidskriftsartikel (refereegranskat)abstract
- Background Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte maturation are unknown. Methods We sequenced the exomes of five members of a four-generation family, three of whom had infertility due to oocyte meiosis I arrest. We performed Sanger sequencing of a candidate gene, TUBB8, in DNA samples from these members, additional family members, and members of 23 other affected families. The expression of TUBB8 and all other β-tubulin isotypes was assessed in human oocytes, early embryos, sperm cells, and several somatic tissues by means of a quantitative reverse-transcriptase-polymerase-chain-reaction assay. We evaluated the effect of the TUBB8 mutations on the assembly of the heterodimer consisting of one α-tubulin polypeptide and one β-tubulin polypeptide (α/β-tubulin heterodimer) in vitro, on microtubule architecture in HeLa cells, on microtubule dynamics in yeast cells, and on spindle assembly in mouse and human oocytes. Results We identified seven mutations in the primate-specific gene TUBB8 that were responsible for oocyte meiosis I arrest in 7 of the 24 families. TUBB8 expression is unique to oocytes and the early embryo, in which this gene accounts for almost all the expressed β-tubulin. The mutations affect chaperone-dependent folding and assembly of the α/β-tubulin heterodimer, disrupt microtubule behavior on expression in cultured cells, alter microtubule dynamics in vivo, and cause catastrophic spindle-assembly defects and maturation arrest on expression in mouse and human oocytes. Conclusions TUBB8 mutations have dominant-negative effects that disrupt microtubule behavior and oocyte meiotic spindle assembly and maturation, causing female infertility. (Funded by the National Basic Research Program of China and others.).
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| 5. |
- Feng, Zhenhua, et al.
(författare)
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Multicore-Fiber-Enabled WSDM Optical Access Network With Centralized Carrier Delivery and RSOA-Based Adaptive Modulation
- 2015
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Ingår i: IEEE PHOTONICS JOURNAL. - : Institute of Electrical and Electronics Engineers (IEEE). - 1943-0655. ; 7:4
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Tidskriftsartikel (refereegranskat)abstract
- We proposed and experimentally demonstrated a wavelength-space division multiplexing (WSDM) optical access network architecture with centralized optical carrier delivery utilizing multicore fibers (MCFs) and adaptive modulation based on reflective semiconductor amplifier (RSOA). In our experiment, five of the outer cores are used for undirectional downstream (DS) transmission only, whereas the remaining outer core is utilized as a dedicated channel to transmit upstream (US) signals. Optical carriers for US are delivered from the optical line terminal (OLT) to the optical network unit (ONU) via the inner core and then transmitted back to the OLT after amplification and modulation by the RSOA in the colorless ONU side. The mobile backhaul (MB) service is also supported by the inner core. Wavelengths used in US transmission should be different from that of the MB in order to avoid the Rayleigh backscattering effect in bidirectional transmission. With quadrature phase-shift keying-orthogonal frequency-division multiplexing (QPSK-OFDM) modulation format, the aggregation DS capacity reaches 250 Gb/s using five outer cores and ten wavelengths, and it can be further scaled to 1 Tb/s using 20 wavelengths modulated with 16 QAM-OFDM. For US transmission, 2.5 Gb/s QPSK-OFDM transmission can be achieved just using a low-bandwidth RSOA, and adaptive modulation is applied to the RSOA to further enhance the US data rate to 3.12 Gb/s. As an emulation of high-speed MB transmission, 48 Gb/s inphase and quadrature (IQ) modulated popularization division multiplexing (PDM)-QPSK signal is transmitted in the inner core of MCF and coherently detected in the OLT side. Both DS and US optical signals exhibit acceptable performance with sufficient power budget.
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| 6. |
- Wu, Xiuchen, et al.
(författare)
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Exposures to temperature beyond threshold disproportionately reduce vegetation growth in the northern hemisphere
- 2019
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Ingår i: National Science Review. - : Oxford University Press (OUP). - 2095-5138 .- 2053-714X. ; 6:4, s. 786-795
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Tidskriftsartikel (refereegranskat)abstract
- In recent decades, terrestrial vegetation in the northern hemisphere (NH) has been exposed to warming and more extremely high temperatures. However, the consequences of these changes for terrestrial vegetation growth remain poorly quantified and understood. By examining a satellite-based vegetation index, tree-ring measurements and land-surface model simulations, we discovered a consistent convex pattern in the responses of vegetation growth to temperature exposure (TE) for forest, shrub and grass in both the temperate (30°−50° N) and boreal (50°−70° N) NH during the period of 1982−2012. The response of vegetation growth to TE for the three vegetation types in both the temperate and boreal NH increased convergently with increasing temperature, until vegetation type-dependent temperature thresholds were reached. A TE beyond these temperature thresholds resulted in disproportionately weak positive or even strong negative responses. Vegetation growth in the boreal NH was more vulnerable to extremely high-temperature events than vegetation growth in the temporal NH. The non-linear responses discovered here provide new insights into the dynamics of northern terrestrial ecosystems in a warmer world.
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| 7. |
- Xia, Hongyan, et al.
(författare)
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Differentiation of Classical Swine Fever Virus Infection from CP7_E2alf Marker Vaccination by a Multiplex Microsphere Immunoassay
- 2015
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Ingår i: Clinical and Vaccine Immunology. - 1556-6811 .- 1556-679X. ; 22, s. 65-71
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Tidskriftsartikel (refereegranskat)abstract
- Classical swine fever (CSF) is a highly contagious viral disease of pigs that has a tremendous socioeconomic impact. Vaccines are available for disease control. However, most industrialized countries are implementing stamping-out strategies to eliminate the disease and avoid trade restrictions. These restrictions can be avoided through the use of marker vaccines such as CP7_ E2alf. Marker vaccines have to be accompanied by reliable and robust discriminatory assays. In this context, a multiplex microsphere immunoassay for serological differentiation of infected from vaccinated animals (DIVA) was developed to distinguish CSF virus (CSFV)-infected animals from CP7_ E2alf-vaccinated animals. To this end, three viral proteins, namely, CSFV E2, CSFV E-rns, and bovine viral diarrhea virus (BVDV) E2, were produced in insect cells using a baculovirus expression system; they were used as antigens in a microsphere immunoassay, which was further evaluated by testing a large panel of pig sera and compared to a well-characterized commercial CSFV E2 antibody enzyme-linked immunosorbent assays (ELISAs) and a test version of an improved CSFV E-rns antibody ELISA. Under a cutoff median fluorescence intensity value of 5,522, the multiplex microsphere immunoassay had a sensitivity of 98.5% and a specificity of 98.9% for the detection of antibodies against CSFV E2. The microsphere immunoassay and the CSFV E-rns ELISA gave the same results for 155 out of 187 samples (82.8%) for the presence of CSFV E-rns antibodies. This novel multiplex immunoassay is a valuable tool for measuring and differentiating immune responses to vaccination and/or infection in animals.
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| 8. |
- Yang, Shilei, et al.
(författare)
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Impact of grassland degradation on the distribution and bioavailability of soil silicon: Implications for the Si cycle in grasslands
- 2019
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 657, s. 811-818
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Tidskriftsartikel (refereegranskat)abstract
- Grassland ecosystems play an important role in the global terrestrial silicon (Si) cycle, and Si is a beneficial elementand structural constituent for the growth of grasses. In previous decades, grasslands have been degradedto different degrees because of the drying climate and intense human disturbance. However, the impact of grasslanddegradation on the distribution and bioavailability of soil Si is largely unknown. Here, we investigated vegetationand soil conditions of 30 sites to characterize different degrees of degradation for grasslands in the agropastoralecotone of northern China. We then explored the impact of grassland degradation on the distributionand bioavailability of soil Si, including total Si and four forms of noncrystalline Si in three horizons (0–10,10–20 and 20–40 cm) of different soil profiles. The concentrations of noncrystalline Si in soil profiles significantlydecreased with increasing degrees of degradation, being 7.35 ± 0.88 mg g−1, 5.36 ± 0.39 mg g−1, 3.81 ±0.37 mg g−1 and 3.60±0.26 mg g−1 in non-degraded, lightly degraded, moderately degraded and seriously degradedgrasslands, respectively. Moreover, the storage of noncrystalline Si decreased from higher than 40 t ha−1to lower than 23 t ha−1. The corresponding bioavailability of soil Si also generally decreased with grassland degradation.These processes may not only affect the Si pools and fluxes in soils but also influence the Si uptake in plants. We suggest that grassland degradation can significantly affect the global grassland Si cycle. Grasslandmanagement methods such as fertilizing and avoiding overgrazing can potentially double the content and storageof noncrystalline Si in soils, thereby enhancing the soil Si bioavailability by N17%.
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