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Biallelic mutations in UGDH cause congenital microcephaly

Genes & Diseases 2023年第5期10卷 1816-1819页

作者： li Shu Guangyao Xie Daoqi Mei rui Xu Shixian liu Bo Xiao Xing li Yuanyuan Xie Xiao Mao Hua Wang National Health Commission Key Laboratory for Birth Defect Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangshaHunan 410005China Departments of Biochemistry Molecular Biology and Medical GeneticsCumming School of MedicineUniversity of CalgaryCalgary T2N 4N1Canada Alberta Children's Hospital Research Institute University of CalgaryCalgary T2N 4N1Canada Department of Neurology Children's Hospital Affiliated to Zhengzhou UniversityZhengzhouHenan 450018China Department of Cell Biology and Genetics School of Basic Medical ScienceXinjiang Medical UniversityUrumqiXinjiang 830054China Department of Pediatric Neurological and Rehabilitation Ganzhou Women and Children's Health Care HospitalGanzhouJiangxi 341000China Department of Neurology Xiangya HospitalChangshaHunan 410005China Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanningGuangxi 530021China Department of Medical Genetics Hunan Provincial Maternal and Child Health Care HospitalChangshaHunan 410005China Clinical Research Center for Placental Medicine in Hunan Province Hunan Provincial Maternal and Child Health Care HospitalChangshaHunan 410005China Department of Medical Genetics Hunan Children's HospitalChangshaHunan 410007China

Hengel et al recently reported that bi-allelic loss-of-function mutations in UDP-Glucose 6-Dehydrogenase(UGDH)caused a severe epileptic encephalopathy syndrome-Jamuar syndrome(OMIM#618792).1 The functional studies partially recapitulated the clinical phenotypes in the patient-derived cerebral organoid.A reduced number of proliferating neuronal progenitors in cerebral organoids was shown,which is a critical mechanism in congenital microcephaly(CM)whose patients were born with an occipitofrontal circumference(OCF)more than 2 standard deviations below average for age and ***,none of the reported patients in the article presented the phenotype as CM.

关键词： congenital cerebral patients

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The GhREV transcription factor regulate the development of shoot apical meristem in cotton(Gossypium hirsutum)

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Journal of Cotton Research 2020年第1期3卷 46-53页

作者： YANG Doudou AN Jing li Fangjun ENEJI A.Agrinya tian Xiaoli li Zhaohu Department of Crop Physiology and Cultivation College of Agronomy and BiotechnologyChina Agricultural UniversityBeijing 100193China Department of Soil Science Faculty of AgricultureForestry and Wildlife Resources ManagementUniversity of CalabarCalabarNigeria

Background:Manual topping is a routine agronomic practice for balancing the vegetative and reproductive growth of cotton(Gossypium hirsutum)in China,but its cost-effectiveness has decreased over ***,there is an urgent need to replace manual topping with new approaches,such as biological *** this study,we examined the function of Gh REV transcription factors(a classⅢhomeodomain-leucine zipper family,HD-ZIPⅢ)in regulating the development of shoot apical meristem(SAM)in cotton with the purpose of providing candidate genes for biological topping of cotton in the ***:We cloned four orthologous genes of At REV in cotton,namely Gh REV1,Gh REV2,Gh REV3,and Gh *** the Gh REVs expressed in roots,stem,leaves,and *** with Gh REV1 and Gh REV3,the expression level of Gh REV2 and Gh REV4 was higher in the ***,only Gh REV2 had transcriptional *** REV2 is localized in the nucleus;and silencing it via virus-induced gene silencing(VIGS)produced an abnormal *** key genes,Gh WUSA10 and Gh STM,which involved in regulating the development of plant SAM,showed about 50%reduction in their transcripts in VIGS-Gh REV2 ***:Gh REV2 positively regulates the development of cotton SAM by regulating Gh WUSA10 and Gh STM potentially.

关键词： Cotton Revoluta(REV) Shoot apical meristem(SAM) Virus induced gene silencing(VIGS)

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Numerical study on failure propagation between two closely spaced tunnels

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2021年第11期22卷 894-908页

作者： Gang ZHENG rui ZHU Ji-bin SUN tian-qi ZHANG Jing-bo TONG rui-kun WANG Yu DIAO School of Civil Engineering Tianjin UniversityTianjin 300072China

An increasing number of engineering accidents have shown that the failure of a tunnel can propagate to a neighbouring ***,due to the complex interaction between the failed tunnel structure and the soil medium,the mechanism by which the failure is propagated between two closely spaced tunnels remains *** this study,the coupled EulerianLagrangian(CEL)modelling technique was adopted to investigate the influence of a failed tunnel(FT)on an adjacent tunnel,which was termed an“influenced tunnel”(IT).The safety of the IT was analysed in detail under different circumstances,such as different failure positions of the FT,different failure degrees of the FT,and different spatial relationships between the two *** simulation results indicated that the most adverse case may occur when the two tunnels are arranged as offsets and the IT is the upper *** this circumstance,significant shear deformation may occur in IT because IT is located at the shear band of the FT.

关键词： Failure propagation Closely spaced tunnels Coupled Eulerian-Lagrangian(CEL)

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Exploring the Nanomechanical Properties of a Coordination-bond Based Supramolecular Polymer

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Chinese Journal of Polymer Science 2022年第12期40卷 1613-1622,I0008页

作者： rui-Xiang Yao Jun-Juan Shi Ke-Huan li Xin liu Hou-Yu Zhang Ming Wang Wen-Ke Zhang State Key Laboratory of Supramolecular Structure and Materials College of ChemistryJilin UniversityChangchun 130012China Institute of Theoretical Chemistry College of ChemistryJilin UniversityChangchun 130012China

Due to their dynamic nature and strength tunability,metallo-supramolecular polymers have been introduced into various *** mechanical strength of the metallo-supramolecular polymers in the system directly influences the mechanical properties(e.g.,the toughness)of the ***,it is necessary to explore the mechanical behavior of the metallo-supramolecular ***,we present a single-molecule method to systematically explore the chain structure and mechanical properties of metallo-supramolecular polymer by using a loop protected ***,we found that the mechanical stability of the individual chain,which is determined by the strength of terpyridine-Fe^(2+) -terpyridine(tpy-Fe^(2+)-tpy)bonds,was about 0.6–1.0 nN,depending on the pulling *** value is around three times higher than those measured using old *** addition,the unique loop protected structure further reduces the interference of non-specific polymer-AFM tip(or polymer-substrate)interactions on the quantification of the actual strength and kinetic parameter of noncovalent interactions in supramolecular ***,the single chain flexibility of the metallo-supramolecular polymer was investigated and found to be comparable to the corresponding covalent *** findings provide a new way to explore the force response of supramolecular polymers composed of metal-ligand interactions and will be useful for the design of metallo-supramolecular polymer-based functional materials with tailored mechanical properties.

关键词： Supramolecular polymer Single-molecule force spectroscopy Coordination chemistry Polymer mechanochemistry

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Characterization of the Hot Deformation Behavior of Cu–Cr–Zr Alloy by Processing Maps

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Acta Metallurgica Sinica(English Letters) 2016年第5期29卷 422-430页

作者： Yi Zhang Hui-li Sun Alex A.Volinsky Bao-Hong tian Zhe Chai Ping liu Yong liu School of Materials Science and Engineering Henan University of Science and TechnologyLuoyang 471003China Department of Mechanical Engineering University of South FloridaTampaFL 33620USA School of Materials Science and Engineering University of Shanghai for Science and TechnologyShanghai 200093China Collaborative Innovation Center of Nonferrous Metals Luoyang 471003China

Hot deformation behavior of the Cu-Cr-Zr alloy was investigated using hot compressive tests in the tem- perature range of 650-850℃ and strain rate range of 0.001-10 s-1. The constitutive equation of the alloy based on the hyperbolic-sine equation was established to characterize the flow stress as a function of strain rate and deformation temperature. The critical conditions for the occurrence of dynamic recrystallization were determined based on the alloy strain hardening rate curves. Based on the dynamic material model, the processing maps at the strains of 0.3, 0.4 and 0.5 were obtained. When the true strain was 0.5, greater power dissipation efficiency was observed at 800-850 ℃ and under 0.001-0.1 s-1, with the peak efficiency of 47%. The evolution of DRX microstructure strongly depends on the deformation temperature and the strain rate. Based on the processing maps and microstructure evolution, the optimal hot working conditions for the Cu-Cr-Zr alloy are in the temperature range of 800-850 ℃ and the strain rate range of 0.001-0.1 s-1.

关键词： Cu-Cr-Zr alloy Hot deformation behavior Strain hardening rate Constitutive equation Processing map

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Identification of waterflooded zones and the impact of waterflooding on reservoir properties of the Funing Formation in the Subei Basin,China

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2013年第2期14卷 147-154页

作者： Peng-hui ZHANG Jin-liang ZHANG Wei-wei REN Jun XIE Ming li Jing-zhe li Fang DING Jin-kai WANG Zi-rui DONG College of Resources Science and Technology Beijing Normal University College of Geological Science and Engineering Shandong University of Science and Technology Henan Oilfield Research Institute College of Marine Geosciences Ocean University of China Schlumberger China

This paper describes the identification of waterflooded zones and the impact of waterflooding on reservoir properties of sandstones of the Funing Formation at the Gao 6 Fault-block of the Gaoji Oilfield,in the Subei Basin,east *** work presents a new approach based on a back-propagation neural network using well log data to train the network,and then generating a cross-plot plate to identify waterflooded zones.A neural network was designed and trained,and the results show that the new method is better than traditional *** a comparative study,two representative wells at the Gao 6 Fault-block were chosen for analysis:one from a waterflooded zone,and the other from a zone without *** from this analysis were used to develop a better understanding of the impact of waterflooding on reservoir properties.A range of changes are shown to have taken place in the waterflooded zone,including changes in microscopic pore structure,fluids,and minerals.

关键词： Waterflooding Reservoir properties Neural network Gao 6 Fault-block Gaoji Oilfield

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HTPdb and HTPtools:Exploiting maize haplotypetag polymorphisms for germplasm resource analyses and genomics-informed breeding

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Plant Communications 2022年第4期3卷 54-63页

作者： Yikun Zhao Hongli tian Chunhui li Hongmei Yi Yunlong Zhang Xiaohui li Han Zhao Yongxue Huo rui Wang Dingming Kang Yuncai Lu Zhihao liu Ziyue liang liwen Xu Yang Yang ling Zhou tianyu Wang Jiuran Zhao Fengge Wang Maize Research Center Beijing Academy of Agriculture&Forestry Sciences(BAAFS)Beijing Key Laboratory of Maize DNA Fingerprinting and Molecular BreedingShuguang Garden Middle Road No.9Beijing 100097China Institute of Crop Sciences Chinese Academy of Agricultural SciencesBeijing 100081China Jilin Academy of Agricultural Sciences Maize Research InstituteGongzhuling 136100China Provincial Key Laboratory of Agrobiology Institute of Crop Germplasm and BiotechnologyJiangsu Academy of Agricultural SciencesNanjing 210014China College of Agronomy and Biotechnology China Agricultural UniversityBeijing 100193China College of Advanced Agriculture and Ecological Environment Heilongjiang UniversityHarbin 150080China

Along with rapid advances in high-throughput-sequencing technology,the development and application of molecular markers has been critical for the progress that has been made in crop breeding and genetic *** molecular markers should be able to rapidly genotype tens of thousands of breeding accessions with tens to hundreds of *** this study,we developed a multiplex molecular marker,the haplotype-tag polymorphism(HTP),that integrates Maize6H-60K array data from 3,587 maize inbred lines with 6,375 blocks from the recombination block *** applying strict filtering criteria,we obtained 6,163 highly polymorphic HTPs,which were evenly distributed in the ***,we developed a genome-wide HTP analysis toolkit,HTPtools,which we used to establish an HTP database(HTPdb)covering the whole genomes of 3,587 maize inbred lines commonly used in breeding.A total of 172,921 non-redundant HTP allelic variations were *** major HTPtools modules combine seven algorithms(e.g.,chain Bayes probability and the heterotic-pattern prediction algorithm)and a new plotting engine named“BCplot”that enables rapid visualization of the background information of multiple backcross *** was designed for big-data analyses such as complex pedigree reconstruction and maize heterotic-pattern *** HTP-based analytical strategy and the toolkit developed in this study are applicable for high-throughput genotyping and for genetic mapping,germplasm resource analyses,and genomics-informed breeding in maize.

关键词： haplotype tag database maize pedigree reconstruction heterotic-pattern prediction genomicsinformed breeding

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Chemoenzymatic Synthesis of Cellular Adhesion Tripeptide RGD Precursor in Organic Media

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Chemical Research in Chinese Universities 2006年第6期22卷 721-726页

作者： WANG Hua ZHAO Mi-feng PU li-mei DING Wei HUANG Yi-bing HOU rui-zhen ZENG Hong-bin XU li ZHANG Xue-zhong Key Laboratory of Molecular Enzymology and Engineering Jilin University Changchun 130021 P. R. China China-Japan Union Hospital Jilin University Changchun 130033 P. R. China First Hospital Jilin University Changchun 130021 P. R. China

Chemoenzymatic synthesis of tripeptide Bz-RGD-（OEt）2 was conducted in this study. First, the free dipeptide Gly-Asp was synthesized via a novel chemical method, wherein only L-aspaxtic acid was used and was followed by the esterification of Gly-Asp. The formation of the linkage between the third amino acid Bz-Arg-OEt and Gly-Asp-（OEt）2 was completed by using the enzymatic method in organic media. The effects of several factors such as pH, the water content, triethylamine （TEA）, the molar ratio of the substrates, and the reaction time on the yield of Bz-RGD- （OEt）2 were examined. It was obtained that the optimum conditions for Bz-RGD-（OEt）2 synthesis in an ethanol/ Tris-HC1 buffer system （ volume ratio 93： 7 ） were as follows ： pH = 8.0 ; temperature, 30 ℃ ; reaction time, 7 h. The tripeptide yield was 75.2%.

关键词： RGD Synthesis Trypsin Organic solvent

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Crystal Structures, Thermal Behavior Analysis and Thermal Safety of Two Energetic Salts of Hydrazinyl-1,2,4,5-tetrazine with 3,5-Dinitrosalicylic Acid

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Chemical Research in Chinese Universities 2018年第6期34卷 959-964页

作者： CHEN Xiang ZENG tian GUO Zhaoqi li Shuailei MAI Tao GAO Rong MA Haixia School of Chemieal Engineering Northwest University Xi 'an 710069 P. R. China College of Chemistry and Materials Science Northwest University Xi 'an 710069 P. R. China

Two energetic salts, ***-H20（1） and DHT.2DNS.2H20（2）[DPHT=3-（3,5-dimethyl-lH-pyrazol- 1-yl）-6-hydrazinyl-1,2,4,5-tetrazine; DHT=3,6-dihydrazinyl-l,2,4,5-tetrazine], were synthesized from S-tetrazine with 3,5-dinitrosalicylic acid（DNS）. Compounds 1 and 2 were structurally characterized by elemental analysis, infrared spectroscopy, and single-crystal X-ray diffraction. The thermal behavior of the title compounds was studied by differential scanning calorimetry（DSC） and thermogravimetry（TG）. The non-isothermal decomposition kinetics of compound 2 were investigated. The self-accelerating decomposition temperature, thermal ignition temperature, and critical temperatures of thermal explosion were obtained to evaluate the thermal safety of compound 2. The results show compounds 1 and 2 decompose at 150.8 and 179.2℃, respectively. The TSADT and Tb of compound 2 are higher than those of DHT, which indicates compound 2 is a potential candidate for energetic materials that have good thermal stability. Keywords Tetrazine compound; Dinitrosalicylic acid（DNS）; Crystal structure; Thermal behavior; Thermal safety

关键词： Tetrazine compound Dinitrosalicylic acid(DNS) Crystal structure Thermal behavior Thermal safety

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Rational Engineering of Secondary Metabolic Pathways in a Heterologous Host to Enable the Biosynthesis of Hibarimicin Derivatives with Enhanced Anti-Melanomic Activity

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Engineering 2024年第7期38卷 113-123页

作者： Xiangyang liu Fei-Peng Zhao tian tian Wei-Chen Wang Zaizhou liu Qiang Zhou Xian-Feng Hou Jing Wang Wenli Guo Shuangjun lin Yasuhiro Igarashi Gong-li Tang State Key Laboratory of Chemical Biology Shanghai Institute of Organic ChemistryUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200032China School of Chemistry and Materials Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024China State Key Laboratory of Microbial Metabolism&Joint International Research Laboratory on Metabolic and Developmental Sciences School of Life Sciences and BiotechnologyShanghai Jiao Tong UniversityShanghai 200240China Biotechnology Research Center Toyama Prefectural UniversityImizu 939-0398Japan

A 61-kb biosynthetic gene cluster(BGC),which is accountable for the biosynthesis of hibarimicin(HBM)B from Microbispora rosea *** TP-A0121,was heterologously expressed in Streptomyces coelicolor M1154,which generated a trace of the target products but accumulated a large amount of shunt *** on rational analysis of the relevant secondary metabolism,directed engineering of the biosynthetic pathways resulted in the high production of HBM B,as well as new HBM derivates with improved antitumor *** results not only establish a biosynthetic system to effectively synthesize HBMs-a class of the largest and most complex Type-Ⅱpolyketides,with a unique pseudo-dimeric structure-but also set the stage for further engineering and deep investigation of this complex biosynthetic pathway toward potent anticancer drugs.

关键词： Hibarimicin Biosynthesis Heterologous expression Biosynthetic gene cluster Rational engineering Type-II polyketide

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