| 1. |
- Zhao, Sen, et al.
(författare)
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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
- 2022
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Ingår i: NPJ genomic medicine. - : Nature Publishing Group. - 2056-7944. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic variants in MYH3. Twelve novel pathogenic variants in MYH3 (NM_002470.4) were identified: three of them were de novo or inherited in autosomal dominant way and nine were inherited in autosomal recessive way. The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions. All monoallelic variants caused significantly decreased SMAD3 phosphorylation, which is consistent with the previously proposed pathogenic mechanism of impaired canonical TGF-β signaling. Most of the biallelic variants were predicted to be protein-truncating, while one missense variant c.4244T>G,p.(Leu1415Arg), which was inherited in an autosomal recessive way, was found to alter the phosphorylation level of p38, suggesting an inhibition of the non-canonical pathway of TGF-β signaling. In conclusion, the identification of 12 novel pathogenic variants and overlapping phenotypes in 17 affected individuals from 10 unrelated families expands the mutation and phenotype spectrum of MYH3-associated skeletal disorders. We show that disturbances of canonical or non-canonical TGF-β signaling pathways are involved in pathogenesis of MYH3-associated skeletal fusion (MASF) syndrome.
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| 2. |
- Du, Shuhui, et al.
(författare)
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Multilocus analysis of nucleotide variation and speciation in three closely related Populus (Salicaceae) species
- 2015
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Ingår i: Molecular Ecology. - : Wiley. - 0962-1083 .- 1365-294X. ; 24:19, s. 4994-5005
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Tidskriftsartikel (refereegranskat)abstract
- Historical tectonism and climate oscillations can isolate and contract the geographical distributions of many plant species, and they are even known to trigger species divergence and ultimately speciation. Here, we estimated the nucleotide variation and speciation in three closely related Populus species, Populus tremuloides, P.tremula and P.davidiana, distributed in North America and Eurasia. We analysed the sequence variation in six single-copy nuclear loci and three chloroplast (cpDNA) fragments in 497 individuals sampled from 33 populations of these three species across their geographic distributions. These three Populus species harboured relatively high levels of nucleotide diversity and showed high levels of nucleotide differentiation. Phylogenetic analysis revealed that P.tremuloides diverged earlier than the other two species. The cpDNA haplotype network result clearly illustrated the dispersal route from North America to eastern Asia and then into Europe. Molecular dating results confirmed that the divergence of these three species coincided with the sundering of the Bering land bridge in the late Miocene and a rapid uplift of the Qinghai-Tibetan Plateau around the Miocene/Pliocene boundary. Vicariance-driven successful allopatric speciation resulting from historical tectonism and climate oscillations most likely played roles inthe formation of the disjunct distributions and divergence of these three Populus species.
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| 3. |
- Jing, Shuping, et al.
(författare)
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Household Transmission of Human Adenovirus Type 55 in Case of Fatal Acute Respiratory Disease
- 2019
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Ingår i: Emerging Infectious Diseases. - : Centers for Disease Control and Prevention (CDC). - 1080-6040 .- 1080-6059. ; 25:9, s. 1756-1758
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Tidskriftsartikel (refereegranskat)abstract
- We identified a case of fatal acute respiratory disease from household transmission of human adenovirus type 55 (HAdV-55) in Anhui Province, China. Computed tomography showed severe pneumonia. Comparative genomic analysis of HAdV-55 indicated the virus possibly originated in Shanxi Province, China. More attention should be paid to highly contagious HAdV-55.
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| 4. |
- Krajangsri, Suppachai, 1955-, et al.
(författare)
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Chemoselective Iridium-catalysed Peterson olefination/Asymmetric Hydrogenation of beta-Hydroxy Silaned
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Herein we report the use of Ir-N,P catalysts for the asymmetric hydrogenation of β-hydroxy silanes via an in-situ generated olefin intermediate. The reaction proceeds via an acid catalysed Peterson olefination reaction and provides hydrogenated products in excellent ee’s of up to 99% accompanied with high isolated yields under mild reaction conditions and short reaction times. Modification of the reaction conditions provides a choice to hydrogenate either an olefin or a β-hydroxy silane in a chemo-selective manner leaving the other functionality unaffected in the product.
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| 5. |
- Krajangsri, Suppachai, et al.
(författare)
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Tandem Peterson olefination and chemoselective asymmetric hydrogenation of β-hydroxy silanes
- 2019
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Ingår i: Chemical Science. - : Royal Society of Chemistry. - 2041-6520 .- 2041-6539. ; 10:12, s. 3649-3653
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Tidskriftsartikel (refereegranskat)abstract
- Here, we report the first Ir-N,P complex catalyzed tandem Peterson olefination and asymmetric hydrogenation of -hydroxy silanes. This reaction resulted in the formation of chiral alkanes in high isolated yields (up to 99%) and excellent enantioselectivity (up to 99% ee) under mild conditions. Modification of the reaction conditions provides a choice to transform either an olefin or the -hydroxy silane in a chemoselective manner. Additionally, based on this method, an expedient enantioselective synthesis of (S)-(+)--curcumene, from a simple ketone, was accomplished in two steps with 75% overall yield and 95% ee.
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| 6. |
- Liao, Chuan, et al.
(författare)
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Advancing landscape sustainability science: theoretical foundation and synergies with innovations in methodology, design, and application
- 2020
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Ingår i: Landscape Ecology. - : Springer Science and Business Media LLC. - 0921-2973 .- 1572-9761. ; 35, s. 1-9
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- © 2020, Springer Nature B.V. Our society has entered in an era of Anthropocene, in which people and their activities dominate almost all ecosystems on the planet. In the context of growing uncertainties, landscape sustainability science (LSS), as a place-based, use-inspired science, aims to understand and improve the dynamic relationship between ecosystem services and human well-being. In this editorial, we identify the major theoretical foundations of LSS, discuss recent innovations in research methodology to advance LSS, summarize the extension of LSS through landscape design and geo-design, and examine the application of LSS for addressing sustainability challenges across multiple landscapes. We highlight that long-term regional sustainability can only be achieved by integrating context-based sustainability across agricultural, urban, and natural landscapes so as to minimize the regional ecological footprint and make advancement towards achieving the sustainable development goals.
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| 7. |
- Liu, Jianguo, et al.
(författare)
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Regioselective Iridium-Catalyzed Asymmetric Monohydrogenation of 1,4-Dienes
- 2017
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Ingår i: Journal of the American Chemical Society. - : American Chemical Society (ACS). - 0002-7863 .- 1520-5126. ; 139:41, s. 14470-14475
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Tidskriftsartikel (refereegranskat)abstract
- A highly efficient regio- and enantioselective monohydrogenation of 1,4-dienes has been realized using an iridium catalyst with a chiral N,P-ligand under mild conditions. The substrate scope was studied and included both unfunctionalized as well as functionalized substituents on the meta- or para-position. Substrates having substituents with functionalities such as silyl protected alcohols or ketals were monohydrogenated in high regioselectivity and high enantiomeric excess (up to 98% ee).
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| 8. |
- Lobo, José, et al.
(författare)
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A convergence research perspective on graduate education for sustainable urban systems science
- 2021
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Ingår i: npj Urban Sustainability. - : Springer. - 2661-8001. ; 1
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Tidskriftsartikel (refereegranskat)abstract
- Sustainable urban systems (SUS) science is a new science integrating work across established and emerging disciplines, using diverse methods, and addressing issues at local, regional, national, and global scales. Advancing SUS requires the next generation of scholars and practitioners to excel at synthesis across disciplines and possess the skills to innovate in the realms of research, policy, and stakeholder engagement. We outline key tenets of graduate education in SUS, informed by historical and global perspectives. The sketch is an invitation to discuss how graduates in SUS should be trained to engage with the challenges and opportunities presented by continuing urbanization.
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| 9. |
- Sun, Shao, et al.
(författare)
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Evolution of future precipitation extremes: Viewpoint of climate change classification
- 2022
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Ingår i: International Journal of Climatology. - : Wiley. - 0899-8418 .- 1097-0088. ; 42:2, s. 1220-1230
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Tidskriftsartikel (refereegranskat)abstract
- Climate change is often described as the average changes in temperature and precipitation; however, it is the change in climate extremes determines the levels of socioeconomic impacts related to climate change. It is generally believed that global warming drives increase in frequency, intensity and duration of precipitation extremes, but these changes vary regionally. Focusing on the relationships between evolution of extreme events and long-term climate change, here we propose a novel classification scheme based on Kӧppen's system and changes in mean and variability of precipitation, divide the global climate into 20 different changing types and reveal the regional evolution of precipitation extremes. We find that precipitation extremes ascend significantly in wetting regions, especially in tropical and temperate zones, independent with changed variability. As for drying regions, the evolution of extremes is related to precipitation variability. An increase of extremes can still be detected in fluctuant-drying areas, while a slight decrease can be seen in stabilized-drying areas. It is surprising to find increase in both wetness and dryness extremes which implies higher intensity of meteorological hazards in densely populated areas. Based on the current and projected growth of population exposure to precipitation extremes, we identify some hotspots with high potential risk in the future.
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| 10. |
- Wang, Xianshu, et al.
(författare)
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Non-solvating fluorosulfonyl carboxylate enables temperature-tolerant lithium metal batteries
- 2023
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Ingår i: Journal of Energy Chemistry. - : Elsevier. - 2095-4956 .- 2096-885X. ; 82, s. 287-295
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Tidskriftsartikel (refereegranskat)abstract
- Advanced electrolyte engineering is an important strategy for developing high-efficacy lithium (Li) metal batteries (LMBs). Unfortunately, the current electrolytes limit the scope for creating batteries that perform well over temperature ranges. Here, we present a new electrolyte design that uses fluorosulfonyl carboxylate as a non-solvating solvent to form difluoroxalate borate (DFOB-) anion-rich solvation sheath, to realize high-performance working of temperature-tolerant LMBs. With this optimized electrolyte, favorable SEI and CEI chemistries on Li metal anode and nickel-rich cathode are achieved, respectively, leading to fast Li+ transfer kinetics, dendrite-free Li deposition and suppressed electrolyte deterioration. Therefore, Li||LiNi0.80Co0.15Al0.05O2 batteries with a thin Li foil (50 μm) show a long-term cycling lifespan over 400 cycles at 1 C and a superior capacity retention of 90% after 200 cycles at 0.5 C under 25 ℃. Moreover, this electrolyte extends the operating temperature from -10 to 30 ℃ and significantly improve the capacity retention and Coulombic efficiency of batteries are improved at high temperature (60 ℃). Fluorosulfonyl carboxylates thus have considerable potential for use in high-performance and all-weather LMBs, which broadens the new exploring of electrolyte design.
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| 11. |
- Wei, Jianhua, et al.
(författare)
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Genome and proteomic analysis of risk factors for fatal outcome in children with severe community-acquired pneumonia caused by human adenovirus 7
- 2023
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Ingår i: Journal of Medical Virology. - : WILEY. - 0146-6615 .- 1096-9071. ; 95:11
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Human adenovirus 7 (HAdV-7) is an important viral pathogen of severe pneumonia in children and a serious threat to health. Methods: A cohort of 45 pediatric patients diagnosed with HAdV-7-associated severe pneumonia and admitted to the Pediatric Intensive Care Unit at the Children's Hospital of Chongqing Medical University from May 2018 to January 2020 were included. Risk factors of death were analyzed by the Cox proportional risk mode with Clinical data, serum, and nasopharyngeal aspirate adenovirus load, Genome analysis, Olink proteomics, and cytokine profile between dead and surviving patients were also analyzed. Results: A total of 45 children with a median age of 12.0 months (interquartile range [IQR]: 6.5, 22.0) were included (female 14), including 14 (31.1%) who died. High serum viral load was an independent risk factor for mortality (hazard ratio [HR] = 2.16, 95% confidence interval [CI], 1.04-4.49, p = 0.039). BTB and CNC homology 1 (BACH1), interleukin-5 (IL-5), and IL-9 levels were significantly correlated with serum viral load (p = 0.0400, 0.0499, and 0.0290; r = 0.4663, 0.3339, and -0.3700, respectively), with significant differences between the dead and survival groups (p = 0.021, 0.001, and 0.021). Conclusions: Severe cytokine storm-associated high serum viral load after HAdV-7 infection may be the main mechanism responsible for poor prognosis in children.
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