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Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第4期12卷 287-292页

作者： Yan LONG Yang-shun gu Wei HAN Xiu-yi LI Ping YU Ming QI Department of Ophthalmology the First Affiliated Hospital School of Medicine Zhejiang University Hangzhou 310003 China Department of Medical Genetics School of Medicine Zhejiang University Hangzhou 310029 China

In this paper,we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced,OMIM No.601692) gene-linked corneal ***,five pedigrees and ten unrelated individuals diagnosed as corneal dystrophy were *** venous DNA was extracted,and then amplified by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP).Direct DNA sequencing was used to analyze the mutations of the TGFBI *** our study,thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I),Avellino corneal dystrophy (ACD),lattice corneal dystrophy type I (LCD I),and lattice corneal dystrophy type ⅢA (LCD IIIA),and in total,seven disease-causing mutations,namely R555W,A546D,A546T,and T538P mutations in exon 12,R124H and R124C mutations in exon 4,and P501T mutation in exon 11,were identified,while four polymorphisms of V327V,L472L,F540F,and 1665-1666insC were screened in exons 8,11,and *** study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of four TGFBI gene-linked corneal dystrophies.

关键词： TGFBI gene Corneal dystrophy Genotype Phenotype Mutation

N-Type Mg_(3)Sb_(2-x)Bi_(x) Alloys as Promising Thermoelectric Materials

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Research 2020年第1期2020卷 20-27页

作者： Hongjing Shang Zhongxin Liang Congcong Xu Jun Mao Hongwei gu Fazhu Ding Zhifeng Ren Department of Physics and Texas Center for Superconductivity at the University of Houston(TcSUH) University of HoustonHoustonTX 77204USA Key Laboratory of Applied Superconductivity and Institute of Electrical Engineering Chinese Academy of SciencesBeijing 100190China University of Chinese Academy of Sciences Beijing 100049China

N-type Mg_(3)Sb_(2-x)Bi_(x) alloys have been extensively studied in recent years due to their significantly enhanced thermoelectric figure of merit(zT),thus promoting them as potential candidates for waste heat recovery and cooling *** this review,the effects resulting from alloying Mg_(3)Bi_(2) with Mg_(3)Sb_(2),including narrowed bandgap,decreased effective mass,and increased carrier mobility,are ***,defect-controlled electrical properties in n-type Mg_(3)Sb_(2-x)Bi_(x) are *** one hand,manipulation of intrinsic and extrinsic defects can achieve optimal carrier *** the other hand,Mg vacancies dominate carrier-scattering mechanisms(ionized impurity scattering and grain boundary scattering).Both aspects are discussed for Mg_(3)Sb_(2-x)Bi_(x) thermoelectric ***,we review the present status of,and future outlook for,these materials in power generation and cooling applications.

关键词： alloying grain scattering

Study on Free-Standing Riser Under Different Working Conditions Based on 3D Co-Rotational Beam Element

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China Ocean Engineering 2024年第5期38卷 725-738页

作者： HUANG Chen gu Ji-jun JIA Ji-chuan CHEN Lei-lei WANG Shu-jiang GAO Lei College of Mechanical and Transportation Engineering China University of Petroleum-BeijingBeijing 102200China School of Safety and Engineering Xinjiang Institute of EngineeringUrumqi 830000China CNOOC Research Institute Beijing 100028China

When the free standing riser(FSR)is in service in the ocean,its mechanical properties are affected by various factors,including complex ocean current forces,buoyancy of the buoyancy can,and torque caused by the deflection of the upper floating *** loads have a great influence on the deformation and internal force of the *** static performance of FSR is investigated in this research under various working *** finite element model of FSR is established based on the co-rotational *** arc length approach is used to solve the *** load is exerted in *** current load on the riser changes with the configuration of the *** accuracy of the numerical method is verified by Abaqus *** calculation time is also ***,the effects of uniform current,actual current and floating body yaw motion on FSR are studied by parameter ***,the influence of the FSR on the ocean current after the failure of part of the buoyancy can chamber is *** results show that the numerical model based on the co-rotational method can effectively simulate the large rotation and torsion behavior of *** method has high computational efficiency and precision,and this method can quickly improve the efficiency of numerical calculation of static analysis of deep-water *** proposed technology may serve as an alternative to the existing proprietary commercial software,which uses a complex graphical user interface.

关键词： free standing riser(FSR) co-rotational method finite element method ocean current nonlinear analysis torsion

Unveiling an S-scheme F–Co_(3)O_(4)@Bi_(2)WO_(6) heterojunction for robust water purification

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eScience 2024年第1期4卷 104-113页

作者： Linhan jian guowen Wang Xinghui Liu Hongchao Ma School of Light Industry&Chemical Engineering Dalian Polytechnic UniversityNo.1 QinggongyuanGanjingzi DistrictDalian 116034People's Republic of China Department of Chemistry Sungkyunkwan University(SKKU)Jangan-GuSuwon 16419Republic of Korea Division of Research and Development Lovely Professional UniversityPhagwaraIndia Science and Technology on Aerospace Chemical Power Laboratory Xiangyang 441003People's Republic of China Hubei Institute of Aerospace Chemotechnology Xiangyang 441003People's Republic of China

Devising a desirable nano-heterostructured photoelectrode based on the charge transfer kinetics mechanism is a pivotal strategy for implementing efficient photoelectrocatalytic(PEC)technology,since the charge separation and utilization efficiency of a photoelectrode is critical to its PEC ***,we fabricate a F–Co_(3)O_(4)@Bi_(2)WO_(6) core–shell hetero-array photoanode by coupling Bi_(2)WO_(6) nanosheets with F–Co_(3)O_(4) nanowires using a simple solvothermal solution *** three-dimensional hierarchical heterostructure has a homogeneous chemical interface,helping it to promote an S-scheme-based carrier transport kinetics and maintain excellent cycling *** density difference calculations verify the electron migration trend from F–Co_(3)O_(4) to Bi_(2)WO_(6) upon hybridization and the formation of an internal electric field in the heterojunction,consistent with the S-scheme mechanism,which is identified by in situ irradiation X-ray photoelectron spectroscopy and by ultraviolet photoelectron *** optimized F–Co_(3)O_(4)@Bi_(2)WO_(6)-2 photoelectrode achieves high carrier utilization efficiency and exhibits superior PEC degradation performance for various organic pollutants,including reactive brilliant blue KN-R,rhodamine B,sulfamethoxazole,and bisphenol *** work not only reveals that F–Co_(3)O_(4)@Bi_(2)WO_(6)-2 is effective for PEC water remediation but also provides a strategy to enhance carrier transport kinetics by designing binary oxides.

关键词： S-scheme Internal electric field Bi_(2)WO_(6) Water purification Photoelectrocatalysis

An active piggyBac-like element in Macdunnoughia crassisigna

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Insect Science 2008年第6期15卷 521-528页

作者： Min Wu Zhi-Chan Sun Chun-Lin Hu gu-Feng Zhang Zhao-Jun Han Key Laboratory of Monitoring and Management of Plant Disease and Insects Ministry of Agriculture Nanjing Agricultural University Nanjing Tongzhou Station of Plant Protection Tongzhou Jiangsu Province China

In this paper, a highly conservedpiggyBac-like sequence, designated as McrPLE was cloned from a lepidopteran insect, Macdunnoughia crassisigna. It is 2 472 bp long in full length with a single open reading frame and encodes a 595 amino acid transposase. It shares identical terminal and sub-terminal repeats with T. ni IFP2 and is flanked by the typical TTAA target-site duplications. Alignment and phylogenetic analysis revealed that McrPLE had greater than 99.5% identity and appeared to be the closest one in phylogeny to IFP2 among the PLEs so far found in various species. Plasmid-based excision and transposition assay proved it was mobile in cell culture. Otherwise, McrPLE element and all other highly conserved IFP2 sequences reported previously were found to share three common nucleotide substitutions. This suggests that the original IFP2 may be a related variant of a predecessor element that became widespread. The existence of nearly identical piggyBac sequence in reproductively isolated species was thought also a strong indication of horizontal transmission, which raises important considerations for the stability and practical use ofpiggyBac transformation vectors.

关键词： piggyBac-like element (PLE) Macdunnoughia crassisigna transposon

Ethnopharmacology,chemodiversity,and bioactivity of Cephalotaxus medicinal plants

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Chinese Journal of Natural Medicines 2021年第5期19卷 321-338页

作者： HAO Da-Cheng HOU Xu-Dong gu Xiao-Jie XIAO Pei-Gen GE guang-Bo Biotechnology Institute School of Environment and Chemical EngineeringDalian Jiaotong UniversityDalian 116028China Institute of Interdisciplinary Integrative Medicine Research Shanghai University of Traditional Chinese MedicineShanghai 201203China Institute of Medicinal Plant Development Chinese Academy of Medical SciencesBeijing 100193China

Cephalotaxus is the only genus of Cephalotaxaceae family,and its natural resources are declining due to habitat fragmentation,excessive exploitation and *** many areas of China,folk herbal doctors traditionally use Cephalotaxus plants to treat innominate swollen poison,many of which are *** only among Han people,but also among minority ethnic groups,Cephalotaxus is used to treat various diseases,e.g.,cough,internal bleeding and cancer in Miao medicine,bruises,rheumatism and pain in Yao medicine,and ascariasis,hookworm disease,scrofula in She medicine,*** values of some Cephalotaxus species and compounds are acknowledged ***,there is a lack of comprehensive review summarizing the ethnomedicinal knowledge o f Cephalotaxus,relevant medicinal phytometabolites and their *** research progresses in ethnopharmacology,chemodiversity,and bioactivities of Cephalotaxus medicinal plants are reviewed and commented *** gaps are pinpointed and future research directions are *** medicinal books,folk medicine books,herbal manuals and ethnomedicinal publications were reviewed for the genus Cephalotaxus(Sanjianshan in Chinese).The relevant data about ethnobotany,phytochemistry,and pharmacology were collected as comprehensively as possible from online databases including Scopus,NCBI PubMed,Bing Scholar,and China National Knowledge Infrastructure(CNKI).44 Cephalotaxus"',and the respective species name were used as keywords in database *** obtained articles of the past six decades were collated and *** Cephalotaxus species are listed in the official medicinal book in *** are used as ethnomedicines by many ethnic groups such as Miao,Yao,Dong,She and *** are obtained from traditional applications,and Cephalotaxus phytometabolites are developed into anticancer ***-type alkaloids,homoerythrina-type alkaloids and homoharringtonine(HHT)are abundant in Cephalo

关键词： Cephalotaxus Ethnomedicine Chemodiversity Alkaloids Bioactivity Pharmacology

Variation at the transcriptional level among Chinese natural populations of Arabidopsis thaliana in response to cold stress

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Chinese Science Bulletin 2008年第19期53卷 2989-2999页

作者： HE Fei KANG JiuQing ZHOU Xin SU Zhen QU LiJia gu HongYa National Laboratory of Protein Engineering and Plant Genetic Engineering Peking-Yale Joint Center for Plant Molecular Genetics and AgroBiotechnology College of Life Sciences Peking University Beijing 100871 China College of Biological Sciences China Agriculture University Beijing 100094 China National Plant Gene Research Center (Beijing) Beijing 100101 China

The Arabidopsis 25K GeneChip (ATH1, Affymetrix) was used to make a survey of the variation of the transcriptional profiles among 5 Chinese natural populations of Arabidopsis thaliana under cold treatment. In normal growth condition, the expression level of 2.26% (513 genes in the population from Jiujiang, jiangxi, JXjjx) to 6.52% (1482 genes in the population from Tongliang, Chongqing, CQtlx) genes was 2-fold higher than that of Col ecotype. Under cold treatment, the expression of 12.84% (2920 genes in the population from Chenggu, Shaanxi, SXcgx) to 19.46% (4426 genes in the population from Qinghe, Xinjiang, XJqhx) genes was up- or down-regulated by at least two-fold that of their controls. In general, most of up-regulated genes might be the genes essential for plant surviving at low temperature, such as genes in CBF pathway and the genes responsible for synthesizing molecules accumulated for cold tolerance. However, each natural population had some specific genes induced under cold treatment. The data indicated that some of the cold-responding genes were differentiated among the populations distributed in the natural habitats with different climate conditions. CBF3, one of the key tran-scription factor genes in cold responding pathway, showed significant differences in expression among populations. The sequence analysis indicated that the changes in its regulation region caused the dramatic difference in the expression pattern. Further studies on the correlation of the function of the differentially expressed genes and the cold tolerance in different populations may provide some new insight into the molecular mechanism of adaptation to local environment in Arabidopsis thaliana in China.

关键词：中国人口调查基因转录实验研究

温度对Anammox-HAP脱氮性能及污泥特性的影响

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中国给水排水 2023年第7期39卷 1-7页

作者：洪猛林驰浩王建伟顾南南刘建勇沧州市供水排水集团有限公司河北沧州053000 上海大学环境与化学工程学院上海200444

厌氧氨氧化(Anammox)用于城市污水处理存在生物质持留难、温度波动引起厌氧氨氧化菌(AnAOB)活性降低等问题,采用具有高生物质浓度及更强环境抵抗能力的厌氧氨氧化-羟基磷灰石(Anammox-HAP)颗粒污泥脱氮具有可行性。Anammox-HAP反应器运... 详细信息

厌氧氨氧化(Anammox)用于城市污水处理存在生物质持留难、温度波动引起厌氧氨氧化菌(AnAOB)活性降低等问题,采用具有高生物质浓度及更强环境抵抗能力的厌氧氨氧化-羟基磷灰石(Anammox-HAP)颗粒污泥脱氮具有可行性。Anammox-HAP反应器运行了176 d,用于考察不同温度对城污水脱氮性能及污泥特性的影响。首先通过降低总氮(TN)浓度模拟城市污水厂的主流污水并保持氮负荷率(NLR)为3.2 g/(L·d)。在18~35℃下出水TN稳定低于15 mg/L,在主流高负荷条件下保持优异的脱氮性能;在13~18℃,TN去除率明显降低,在13℃降至46.4%。温度提升后,TN去除率在30℃下最高恢复至77.8%,表明低温导致的AnAOB活性下降可逆。在降温的过程中磷去除率为20.2%,低温条件下HAP性质稳定,但Anammox-HAP颗粒污泥的VSS/TSS随着温度的下降而降低。

关键词：厌氧氨氧化羟基磷灰石城市污水脱氮颗粒污泥特性温度

Characterization of Amphidinium(Amphidiniales,Dinophyceae)species from the China Sea based on morphological,molecular,and pigment data

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Journal of Oceanology and Limnology 2022年第3期40卷 1191-1219页

作者： Zhaohe LUO Hua ZHANG Qun LI Lei WANG Hala F MOHAMED Songhui LÜ Haifeng gu Third Institute of Oceanography Ministry of Natural ResourcesXiamen 361005China Research Center of Harmful Algae and Marine Biology College of Life Science and TechnologyJinan UniversityGuangzhou 510362China Shenzhen Academy of Environmental Science Shenzhen 510008China Botany&Microbiology Department Faculty of ScienceAl-Azhar University(Girls Branch)Cairo 11751Egypt Southern Marine Science and Engineering guangdong Laboratory Zhuhai 519000China Observation and Research Station of Coastal Wetland Ecosystem in Beibu gulf Ministry of Natural ResourcesBeihai 536015China

Amphidinium species are amongst the most abundant benthic dinoflagellates in marine intertidal sandy *** of them are able to produce a variety of bioactive compounds that can have both harmful effects and pharmaceutical *** diversity of Amphidinium in shallow waters along the Chinese coast was investigated by isolating single cells from sand,coral,and macroalgal samples collected from 2012 to *** morphologies were subjected to examination using light microscopy(LM)and scanning electron microscopy(SEM).A total of 74 Amphidinium strains were morphologically identified,belonging to 11 species:***,***,***,***,***,***,***,***,***,***,***,as well as an undefined *** last seven species have not been previously reported in Chinese *** carterae subcladesⅠ,Ⅱ,andⅣwere found in the South China Sea,while subcladeⅢwas only found in the Yellow *** body scales were observed on the surface of subcladesⅢ and Ⅳ,supporting the idea that *** might contain several different *** subunit ribosomal RNA(LSU rRNA)sequencesbased phylogeny revealed two groups(GroupsⅠandⅡ)within Amphidinium,which is consistent with the relative position of sulcus(in touch with cingulum or not).In addition,large differences in morphology and molecular phylogeny between ***(the type species of Amphidinium)and other species,suggest that a subdivision of Amphidinium might be *** pigment profiles of all available strains were analyzed by high performance liquid chromatography(HPLC).Eleven pigments,including peridinin,diadinoxanthin,diatoxanthin,pheophorbide(and pheophorbide a),antheraxanthin,β-carotene,and four different chlorophylls were *** high pheophorbide/pheophorbide a ratio in Amphidinium implies that it may be a good candidate as a natural source of photosensitizers,a well-known anticancer drug.

关键词： harmful algae benthic-epiphytic dinofl agellate phylogeny geographic distribution pheophorbide photosensitizers