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Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling

Zoological Research 2023年第3期44卷 650-662页

作者： Nicolas James Ho Xiao Chen Yong Lei shen Gu School of Biomedical Sciences Faculty of MedicineThe Chinese University of Hong KongHong Kong SARChina Dr.Li Dak Sum-Yip Yio chin Center for Stem Cells and Regenerative Medicine and Department of Orthopedic Surgery of the Second Affiliated Hospital Zhejiang University School of MedicineHangzhouZhejiang 310058China Key Laboratory of Tissue Engineering and Regenerative Medicine of Zhejiang Province Zhejiang University School of MedicineHangzhouZhejiang 310058China Zhejiang University-University of Edinburgh Institute&School of Basic Medicine Zhejiang University School of MedicineHangzhouZhejiang 310058China Department of Sports Medicine Zhejiang University School of MedicineHangzhouZhejiang 310058China china Orthopedic Regenerative Medicine Group(CORMed) HangzhouZhejiang310058 China School of Medicine The Chinese University of Hong Kong(Shenzhen)ShenzhenGuangdong 518172China The chinese University of Hong Kong(shenzhen) Shenzhen Futian Biomedical Innovation R&D CenterShenzhenGuangdong 518172China Key Laboratory for Regenerative Medicine Ministry of EducationSchool of Biomedical SciencesFaculty of MedicineThe Chinese University of Hong KongHong Kong SARChina Kunming Institute of Zoology-The chinese University of Hong Kong(KIZ-CUHK)Joint Laboratory of Bioresources and Molecular Research of Common Diseases Hong Kong SARChina Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics The Chinese University of Hong KongHong Kong SARChina

Hereditary spastic paraplegia(HSP)is a group of genetic motor neuron diseases resulting from length-dependent axonal degeneration of the corticospinal upper motor *** to the advancement of next-generation sequencing,more than 70 novel HSP disease-causing genes have been identified in the past *** this,our understanding of HSP physiopathology and the development of efficient management and treatment strategies remain *** major challenge in studying HSP pathogenicity is selective neuronal vulnerability,characterized by the manifestation of clinical symptoms that are restricted to specific neuronal populations,despite the presence of germline disease-causing variants in every cell of the ***,disease genes may exhibit ubiquitous expression patterns and involve a myriad of different pathways to cause motor neuron *** the current review,we explore the correlation between transcriptomic data and clinical manifestations,as well as the importance of interspecies models by comparing tissue-specific transcriptomic profiles of humans and mice,expression patterns of different genes in the brain during development,and single-cell transcriptomic data from related ***,we discuss the potential of emerging single-cell RNA sequencing technologies to resolve unanswered questions related to HSP pathogenicity.

关键词： degeneration transcript hereditary

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Effects of high temperature annealing on the dislocation density and electrical properties of upgraded metallurgical grade multicrystalline silicon

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chinese Science Bulletin 2011年第7期56卷 695-699页

作者： HuaBi Xu RuiJiang Hong Hui shen Sun Yat Sen Univ State Key Lab Optoelect Mat & Technol Inst Solar Energy Syst Guangzhou 510006 Guangdong Peoples R China

High temperature annealing was performed on upgraded metallurgical grade multicrystalline silicon (UMG multi-Si) wafers with a purity of 99.999%. The samples were mechanically polished and chemically etched, and then the microstructures were observed by a scanning electron microscope (SEM). The minority carrier lifetime and resistivity of the samples were measured using microwave photoconductance decay and four-point probe techniques, respectively. The results show that the electrical properties of the samples decrease rather than increase as the annealing temperature increases, while the number of dislocations in bulk Si reduced or even disappeared after annealing for 6 hours at 1100–1400°C. It is considered that the structural microdefects induced by the high concentration of metal impurities (including interstitial or substitutional impurities and nanoscale precipitates) determine the minority carrier recombination activity and thus the electrical properties of UMG multi-Si wafers rather than dislocations in bulk Si.

关键词：电学性能退火效应高温退火多晶硅冶金级位错密度扫描电子显微镜化学机械抛光

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Single photon response of superconducting nanowire single photon detector

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chinese Science Bulletin 2010年第4期55卷 441-445页

作者： YOU LiXing shen XiaoFang YANG XiaoYan State Key Laboratory of Functional Materials for Informatics Shanghai Institute of Microsystem and Information Technology (SIMIT) Chinese Academy of Sciences Shanghai 200050 China

Single photon detection is one of the key technologies for quantum key distribution in quantum communication. As a novel single photon detection technology, superconducting nanowire single photon detector (SNSPD) surpasses conventional semiconducting single photon detectors with high count rate and low dark count rate. In this article, we introduce SNSPD fabricated from NbN ultrathin superconducting film and lab-based SNSPD system. The characteristics of single photon response pulse of SNSPD are analyzed in detail. Also discussed is the relationship between waveform of single photon response and system bandwidth. Circuit model is made to analyze the performance of SNSPD. The simulation result agrees well with the experimental data. Those results are valuable for understanding the mechanism of SNSPD and building future SNSPD system for quantum communication.

关键词：单光子探测器超导薄膜纳米线反应量子通信高计数率 PD系统密钥分配

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Cyclic AMP response element binding protein(CREB) participates in the heat-inducible expression of human hsp90β gene

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chinese Science Bulletin 2001年第19期46卷 1645-1649页

作者： Bingsheng Liu Ninghua Wu Yufei shen National Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China

Human heat shock protein 90β gene (hsp90β) is a constitutively expressed heat shock gene existing in most of cell types tested that can be further induced by heat shock. Chloramphenical acetyl transferase (CAT) reporter plasmids driven by different regulatory fragments of hsp90B gene were constructed and transfected into Jurkat cells to explore the role of a cAMP response element (CRE) in the upstream of the gene. Results show that, in comparison with the wild type construct, a severe reduction (~2/3) in the increased folds of promoter activity induced by heat shock at 42℃ for 1 h was observed in a construct with CRE-containing fragment (-173/-91bp) deleted. Electrophoretic mobility shift assays (EMSA) showed that phosphorylated CRE-bindingprotein (CREB) in the nuclear extract of heat shocked Jur-kat cells is specifically bound to the fragment. Additionally, both of the phosphorylation on CREB and the activity of protein kinase A (PKA) were found in Jurkat cells to be enhanced with extending time of

关键词： hsp90β gene CRE CREB PKA heat shock.

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Spectrofluorimetric determination of artemisinin with pyronine B as the substrate for horseradish peroxidase

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chinese Science Bulletin 2005年第17期50卷 1834-1838页

作者： CHEN lihua LIU Liuzhan shen Hanxi College of Chemistry Jishou University Jishou 416000 China College of Chemistry Nankai University Tianjin 300071 China

Enzyme-catalytic fluorescence determination of artemisinin (qinghaosu, QHS) was developed using pyronine B (PB) as substrate of horseradish peroxidase (HRP). The interaction between HRP and QHS was an enzyme-substrate model. The catalytic characteristic of HRP in the oxidation reaction, in which the fluorescence of PB was decreased in the presence of QHS, was studied. The steady-state catalytic rate depended upon enzyme and substrate concentrations, and the Michaelis-Menten parameters Km, Vmax and Kcat were 8.4×10?5 mol · L?1, 7.4×10?6 mol · L?1 s?1 and 50.23 s?1. The catalytic activity of enzyme was inhibited in the presence of deactivated agents and at high temperature, respectively. Under optimum conditions, linear relationship between fluo-rescence intensity change (F0?F) of pyronine B and concen-tration of QHS was in the range of 1.41×10?7―1.27×10?6 mol · L?1. The detection limit (3σ) was determined to be 2.7×10?8 mol · L?1. The proposed method was applied to the concentration determination of QHS in the media of plasma or urine samples.

关键词：光谱荧光计派若宁B 山葵过氧化酶荧光亮度

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Magnetite of Early Ordovician limestone in Tarim and implications for paleomagnetism

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chinese Science Bulletin 1997年第13期42卷 1110-1113页

作者： shen, ZY Ye, Y Fang, DJ Department of Earth Sciences Zhejiang University Hangzhou 310027 China

THE Early Ordovician Baiyungang Formation limestone in Tarim is characterized by multiplemagnetic components including primary remanent magnetism (PRM) and late remagnetiza-tion. Considerable attention should be paid to its petromagnetic significance. Investigatingthe relationship between these components and the magnetic carriers is important to distin-

关键词： petromagnetism paleomagnetism Baiyungang Formation.

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Gel formation in extracted organic phase and FT-IR characterization

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chinese Science Bulletin 1997年第14期42卷 1168-1172页

作者： shen, YH Wang, DJ Wu, JG BEIJING UNIV COLL CHEM & MOL ENGNSTATE KEY LAB RARE MAT CHEM & APPLICATBEIJING 100871PEOPLES R CHINA

IN the early 1980s, Wu and co-workers indicated that the saponification of acidic extractants,such as di(2-ethylhexyl) phosphoric acid (D2EHPA), 2-ethylhexyl phosphoric acid mono 2-ethylhexylester (PC88A), and naphthenic acid (NA), is a process of the formation of a wa-ter-in-oil (w/o) microemulsion in the organic phase. From then on, the aggregation behav-ior of this sort of extractant and metal-extractant complex in bulk phases has been investigatedfor about twenty years. The microstructure and properties of organic aggregates were ex-

关键词： DMHPA lanthanide extraction gel FT-IR.

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Abnormal growth of Ag_(3)Sn intermetalUc compounds in Sn-Ag lead-free solder

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chinese Science Bulletin 2006年第14期51卷 1766-1770页

作者： shen Jun LIU Yongchang GAO Houxiu College of Mechanical Engineering Chongqing University Chongqing 400044 China College of Materials Science & Engineering Tianjin University Tianjin 300072 China

The abnormal growth of Ag3Sn inter-metallic compounds in eutectic Sn-3.5% Ag solder was investigated through high-temperature aging treatment. Microstructural evolutions of this solder before and after the aging treatment were observed by optical microscopy and scanning electron mi-croscopy. Precise differential thermal analysis was made to study the changes in enthalpies of the solder under different conditions. The results reveal that the water-cooled solder is in metastable thermodynamic state due to the high free energy of Ag3Sn nanoparti-cles, which sporadically distribute in the matrix as second-phase. The second-phase Ag3Sn nanoparti-cles aggregate rapidly and grow to form bulk inter-metallic compounds due to the migration of grain boundary between primary Sn-rich phase and the Ag3Sn nanoparticles during high temperature aging treatment.

关键词：无铅焊料金属间化合物示差热分析纳米相 Ag3Sn

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Insights into the subunit in-teractions of the chloroplast ATP synthase

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chinese Science Bulletin 2002年第1期47卷 58-62页

作者： Shi, XB Wei, JM shen, YG chinese Acad Sci Shanghai Inst Biol Sci Shanghai Inst Plant Physiol Shanghai 200032 Peoples R China

Subunit interactions of the chloroplast F0F1-ATP synthase were studied using the yeast two-hybrid sys-tem. The coding sequences of all the nine subunits of spinach chloroplast ATP synthase were cloned in two-hybrid vectors. The vectors were transformed into the yeast strains HF7c and SFY526 by various pairwise combinations, and the protein interactions were analyzed by measuring the yeast growth on minimal SD medium without serine, lucine and histidine. Interactions of γ subunit with wild type or two truncated mutants of ε sununit, ε△N21 and ε△C45, which lose their abilities to inhibit the ATP hydrolysis, were also detected by in vitro and in vivo binding assay. The present results are largely accordant to the common structure model of F0F1-ATP synthase. Different from that in the E. coli F0F1-ATP synthase, the δ subunit of chloroplast ATP synthase could interact with β. γ, ε and all the CF0 subunits in the two-hybrid system. These results suggested that though the chloroplast ATP synthase

关键词： F0F1-ATP synthase subunit interaction yeast two-hybrid system δ subunit.

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Efficient polymerization of acrylonitrile catalyzed by divalent lanthanide complex/sodium phenolate systems

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chinese Science Bulletin 2001年第17期46卷 1443-1445页

作者： YAO Yingming shen Qi ZHANG Lilu Department of Chemistry and Chemical Engineering Suzhou UniversitySuzhou 215006China State Key Laboratory of Organometallic Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesShanghai 200032China

Four divalent lanthanide complexes Sm(ArO)2 -(THF)4) Yb(ArO)2(THF)3, Eu(ArO)2(THF)3 (ArO=2,6-di-tert-butyl-4-methylphenolate) and (ButCp)2Sm(THF)2 were synthesized. Their catalytic activities on the polymerization of acrylonitrile were studied. The catalytic activities were influenced by the central metal ions involved. The catalytic activities of these divalent lanthanide complexes can be greatly increased by adding NaOC6H2-2,6-But2-4-Me, NaOC6H4-4-But, or NaOC10H6-2-Me. The amount of additive has apparent effect on the catalytic activity, but the additive has no effect on the tacticity of the resulting polyacryloni-trile.

关键词： lanthanide complexes sodium phenolate catalysis acry-lonitrlle polymerization.

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