| 1. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Deng, Min, et al.
(författare)
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Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis
- 2013
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 45:6, s. 697-
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Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility genes for amyotrophic lateral sclerosis (ALS), we conducted a genome-wide association study (GWAS) in 506 individuals with sporadic ALS and 1,859 controls of Han Chinese ancestry. Ninety top SNPs suggested by the current GWAS and 6 SNPs identified by previous GWAS were analyzed in an independent cohort of 706 individuals with ALS and 1,777 controls of Han Chinese ancestry. We discovered two new susceptibility loci for ALS at 1q32 (CAMK1G, rs6703183, P-combined = 2.92 x 10(-8), odds ratio (OR) = 1.31) and 22p11 (CABIN1 and SUSD2, rs8141797, P-combined = 2.35 x 10(-9), OR = 1.52). These two loci explain 12.48% of the overall variance in disease risk in the Han Chinese population. We found no association evidence for the previously reported loci in the Han Chinese population, suggesting genetic heterogeneity of disease susceptibility for ALS between ancestry groups. Our study identifies two new susceptibility loci and suggests new pathogenic mechanisms of ALS.
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| 3. |
- 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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| 4. |
- Feng, Ruizhi, et al.
(författare)
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MiRNA-320 in the human follicular fluid is associated with embryo quality in vivo and affects mouse embryonic development in vitro.
- 2015
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Previous work from our laboratory demonstrated the existence of miRNAs in human follicular fluid. In the current study, we have sought to identify miRNAs that might affect oocyte/embryo quality in patients undergoing intracytoplasmic sperm injection and to investigate their roles in in vitro fertilization outcomes in mouse oocytes. 53 samples were classified as Group 1 (high quality) if the day-3 embryos had seven and more cells or as Group 2 (low quality) if the embryos had six and fewer cells. TaqMan Human microRNAs cards and qRT-PCR were performed to verify differently expressed miRNAs. The function of the corresponding miRNA was investigated in mouse oocytes by injecting them with miRNA-inhibitor oligonucleotides. We found that hsa-miR-320a and hsa-miR-197 had significantly higher expression levels in the Group 1 follicular fluids than in Group 2 (p = 0.0073 and p = 0.008, respectively). Knockdown of mmu-miR-320 in mouse oocytes strongly decreased the proportions of MII oocytes that developed into two-cell and blastocyst stage embryos (p = 0.0048 and p = 0.0069, respectively). Wnt signaling pathway components had abnormal expression level in miR-320 inhibitor-injected oocytes. This study provides the first evidence that miRNAs in human follicular fluid are indicative of and can influence embryo quality.
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| 5. |
- Huang, Shiliang, et al.
(författare)
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Three-Dimensional Open-Framework Germanate Built from a Novel Ge-13 Cluster and Containing Two Types of Chiral Layers
- 2018
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Ingår i: Crystal Growth & Design. - : American Chemical Society (ACS). - 1528-7483 .- 1528-7505. ; 18:2, s. 928-933
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Tidskriftsartikel (refereegranskat)abstract
- A new open-framework germanate [Ge15O30(OH)(4)]center dot 2(H(2)tren), denoted SU-69, was synthesized under hydrothermal conditions with tris(2-aminoethyl)-amine (tren) as a structure directing agent (SDA). SU-69 crystallizes in a monoclinic space group (C2/c, No. 15) with a = 20.2656(7) angstrom, b = 11.6250(4) angstrom, c = 18.5602(10) angstrom, and beta = 90.528(4)degrees. The framework of SU-69 is built from a novel Ge13O27(OH)(2) (Ge-13) cluster with two additional GeO3(OH) tetrahedra. Two types of chiral 3,6-net building layers are found in the framework, which alternately stack and connect to form a three-dimensional achiral framework with a two-dimensional 10 x 12-ring channel system. The SDA molecules interact with the framework via H-bonds. The thermal stability of as-synthesized SU-69 has also been investigated.
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| 6. |
- Lin, Huijuan, et al.
(författare)
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Poly(ionic liquid)s with engineered nanopores for energy and environmental applications
- 2020
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Ingår i: Polymer. - : Elsevier BV. - 0032-3861 .- 1873-2291. ; 202
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Tidskriftsartikel (refereegranskat)abstract
- Poly(ionic liquid) (PIL) integrates some intrinsic characteristics of ionic liquids (ILs) with classic merits of polymeric materials, and opens up a new dimension to research ionic polymers. Nanoporous PILs with controlled nanopores combine the advantages of two classes of functional materials, i.e., porous polymers and ILs, which greatly expand their applicability to energy storage and conversion, environmental sensing, gas sorption and catalysis. In this short review, we summarize the recent advances in the design and synthesis of nanoporous PILs, focusing on pore generation and engineering, electrostatic interactions, and potential applications to address energy and environmental issues. Porous carbons from nanoporous PIL templates/precursors are also briefly discussed as an extension of nanoporous PILs for energy research. Finally, our future perspectives on the potential of nanoporous PILs are presented.
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| 7. |
- Tang, Liqiu, et al.
(författare)
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A zeolite family with chiral and achiral structures built from the same building layer
- 2008
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Ingår i: Nature Materials. - : Springer Science and Business Media LLC. - 1476-1122 .- 1476-4660. ; 7:5, s. 381-385
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Tidskriftsartikel (refereegranskat)abstract
- Porosity and chirality are two of the most important properties for materials in the chemical and pharmaceutical industry. Inorganic microporous materials such as zeolites have been widely used in ion-exchange, selective sorption/separation and catalytic processes. The pore size and shape in zeolites play important roles for specific applications(1-3). Chiral inorganic microporous materials are particularly desirable with respect to their possible use in enantioselective sorption, separation and catalysis(4). At present, among the 179 zeolite framework types reported, only three exhibit chiral frameworks(5-7). Synthesizing enantiopure, porous tetrahedral framework structures represents a great challenge for chemists. Here, we report the silicogermanates SU-32 (polymorph A), SU-15 (polymorph B) (SU, Stockholm University) and a hypothetical polymorph C, all built by different stacking of a novel building layer. Whereas polymorphs B and C are achiral, each crystal of polymorph A exhibits only one hand and has an intrinsically chiral zeolite structure. SU-15 and SU-32 are thermally stable on calcination.
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| 8. |
- Wang, Yang, et al.
(författare)
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Role of point defects on the reactivity of reconstructed anatase titanium dioxide (001) surface
- 2013
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 4, s. 2214-
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Tidskriftsartikel (refereegranskat)abstract
- The chemical reactivity of different surfaces of titanium dioxide (TiO2) has been the subject of extensive studies in recent decades. The anatase TiO2(001) and its (1 x 4) reconstructed surfaces were theoretically considered to be the most reactive and have been heavily pursued by synthetic chemists. However, the lack of direct experimental verification or determination of the active sites on these surfaces has caused controversy and debate. Here we report a systematic study on an anatase TiO2(001)-(1 x 4) surface by means of microscopic and spectroscopic techniques in combination with first-principles calculations. Two types of intrinsic point defects are identified, among which only the Ti3+ defect site on the reduced surface demonstrates considerable chemical activity. The perfect surface itself can be fully oxidized, but shows no obvious activity. Our findings suggest that the reactivity of the anatase TiO2(001) surface should depend on its reduction status, similar to that of rutile TiO2 surfaces.
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| 9. |
- Yang, Xiaofang, et al.
(författare)
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Application of ATR-FTIR spectroscopy in the study of adsorption on environmental micro-interfaces
- 2010
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Ingår i: Huaxue jinzhan. - 1005-281X. ; 22:6, s. 1185-1194
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Tidskriftsartikel (refereegranskat)abstract
- Interfacial adsorption process is the initial step or key step for most of environmental micro-interface reactions. The online study of environmental micro-interfacial adsorption by in situ research methods provides direct information about interface reactions and reliable evidence for the detection of reaction mechanisms which are of great importance to understand the rule of transformation and distribution of pollutants in the environment. Because of its unique sampling principle, convenient sample pre-treatment and wide applicability, attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) is becoming a powerful tool for investigating the interface reactions. Based on a brief introduction of the working principle of ATR-FTIR, the application of this technique in the investigation of adsorption on environmental interfaces, especially mineral-water interfaces, is summarized. Furthermore, the perspective of this method is discussed as well.
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| 10. |
- Yue, Huijuan, et al.
(författare)
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Complex Open-Framework Germanate Built by 8-Coordinated Ge-10 Clusters
- 2012
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Ingår i: Inorganic Chemistry. - : American Chemical Society (ACS). - 0020-1669 .- 1520-510X. ; 51:22, s. 12260-12265
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Tidskriftsartikel (refereegranskat)abstract
- A novel open-framework germanate [(C5H14N2)(2)(C5H12N2)(0.5)(H2O)(2.5)][Ge12.5O26(OH)(2)] with three-dimensional 10- and 11-ring channels, denoted as SU-67, has been synthesized under hydrothermal conditions using 2-methylpiperazine (MPP) as the structure-directing agent (SDA). The synthesis is intimately related to that of JLG-5, a tubular germanate built from Ge-7 clusters. The influences of synthesis parameters are discussed. A strong influence of the hydrofluoric acid quantity on the resulting cluster building units can be concluded. The framework of SU-67 is based on an elaborate topological pattern of connected Ge-10 clusters forming intersecting 10- and 11-ring channels and has a low framework density (12.4 Ge atoms per 1000 angstrom(3)). We have discovered that the topology of SU-67 is a new 8-connected nce-8-I4(1)/acd net. Strong hydrogen bonding among the organic SDAs, water molecules, and Ge-10 clusters resulted in helical networks in SU-67.
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