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A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

International Journal of Ophthalmology(English edition) 2015年第6期8卷 1112-1117页

作者： Qin-Kang Lu Na Zhao ya-su lv Wei-Kun Gong Hui-Yun Wang Qi-Hu Tong Xiao-Ming Lai Rong-Rong Liu Ming-yan Fang Jian-Guo Zhang Zhen-Fang Du Xian-Ning Zhang Ophthalmology Center Yinzhou People's Hospital Yinzhou Hospital Affiliated to Medical School of Ningbo University Department of Cell Biology and Medical Genetics Research Center for Molecular Medicine Institute of Cell BiologyZhejiang University School of Medicine BGI-Shenzhen

AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family *** results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block *** modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

关键词： cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing CRX gene mutation

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Physical Layer Security Scheme With AoI-Awareness for Industrial IoT Based on Covert Communications

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IEEE/CAA Journal of Automatica Sinica 2025年第1期 276-278页

作者： yaping Li Zhi-Xin Liu Jia-Wei su ya-Zhou Yuan the Key Laboratory of Industrial Computer Control Engineering of Hebei Province Yanshan University

Dear Editor,Industrial Internet of things(IIoT) is a typical application of cyberphysical system(CPS). In the IIoT, wireless communication is an inevitable trend to replace the deployment-limited wired transmission for cases with large-scale and mobile devices. However, wireless communication gives rise to critical issues related to physical security, such as malicious detections and attacks [1].

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KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma

KRT9 gene mutation as a reliable indicator in the prenatal m...

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2014浙江省医学会医学遗传学学术年会

作者： Hai-Ping Ke Hu-Ling Jiang ya-su lv Yi-Zhou Huang Rong-Rong Liu Xiao-Ling Chen Zhen-Fang Du Yu-Qin Luo Chen-Ming Xu Xian-Ning Zhang Department of Biology Ningbo College of Health Sciences Department of Cell Biology and Medical Genetics Research Center of Molecular MedicineNational Education Base for Basic Medical SciencesInstitute of Cell BiologyZhejiang University School of Medicine Key Laboratory of Reproductive Genetics(Zhejiang) Ministry of Educationand Centre of Reproductive MedicineWomen's HospitalZhejiang University School of Medicine

Objectives:Epidermolytic palmoplantar keratoderma(EPPK)is the most frequent form of *** is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after *** is generally caused by mutations of the KRT9 *** than 26 mutations of KRT9 responsible for EPPK have been described

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Experimental investigation of the thermal insulation performance of Ce/Si/Ti oxide heat-reflective coating

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2023年第10期24卷 912-924页

作者： Rui su Yue lv Qian su yanfei PEI School of Civil Engineering Southwest Jiaotong UniversityChengdu 610031China

To solve the problem of deformation and cracking of ballastless track slab under temperature load,a composite oxide and a series of heat-reflective coating samples were *** the microscopic level,the elemental composition and optical properties of the materials prepared were analyzed by Fourier transform infrared spectroscopy and ultraviolet-visible spectroscopy,and the feasibility of Ce/Si/Ti oxide as functional fillers for heat-reflective coatings of track slabs was *** the macro level,by designing and assembling an indoor sunlight simulation test device,the surface and internal temperatures of the coated and uncoated concrete specimens were analyzed and studied,and the macroscopic cooling effect of the coatings was ***,to study the engineering application effect of the track slab thermal insulation reflective coating,COMSOL was used to build a 3D calculation model of the heat transfer deformation of the ballastless track slab *** research results showed that:Ce/Si/Ti oxide has strong reflectivity and can reflect 95%of infrared light;it has good ultraviolet(UV)shielding ability and can absorb more than 65%of the UV *** TiO2 coating can reduce the temperature of the concrete surface by 6–11℃and that of the inside of the concrete by 10–14℃;the cooling effect decreases evenly with the increase of air *** Ce/Si/Ti oxide coating can reduce the surface temperature of the concrete by 16℃and that of the inside of the concrete by 15℃.In addition,the cooling effect is basically not affected by the air temperature,and it changes non-linearly with the increase of the Ce/Si/Ti oxide *** calculation shows that the heat reflective coating can reduce the surface temperature and internal temperature difference of the track slab by 11.54–21.31℃,and the vertical displacement of the track slab can be reduced by about 35%–70%.Considering the cooling effect,the adhesion strength,and the engineering application effe

关键词： Track slab Solar radiation Thermochromic coating Cooling performance

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Bullous pemphigoid associated with acquired hemophilia A: A case report

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World Journal of Clinical Cases 2025年第4期13卷 28-33页

作者： su-Ye Hu Meng-Can Li Zi-Jia Hao Xu-ya Chai Pei-Sai Li yang Liu Li-Xia Liu Ying Xu Pan-Pan yang Ling-E Li Department of Dermatology Shijiazhuang Traditional Chinese Medicine HospitalShijiazhuang 050051Hebei ProvinceChina Graduate School Hebei University of Traditional Chinese MedicineShijiazhuang 050051Hebei ProvinceChina Department of Pathology Shijiazhuang Traditional Chinese Medicine HospitalShijiazhuang 050051Hebei ProvinceChina

BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must *** suMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 *** AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.

关键词： Bullous pemphigoid Acquired hemophilia A Acquired hemophilia A FactorⅧ Case report

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Optimal livelihood strategy for different poverty groups among farmers: a case study of the Qin-Ba Mountain area in South-Shaanxi, China

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Journal of Mountain Science 2020年第5期17卷 1206-1220页

作者： su Fang YIN ya-juan School of Economics and Management Shaanxi University of Science&TechnologyXi'an 710021China

Achieving sustainable livelihood is the ultimate goal of poverty alleviation efforts in mountainous areas,and selecting an optimal livelihood strategy for different poverty-type farmers greatly improves farmers’livelihood capital,resists livelihood risks,and promotes sustainable *** farmers,optimal livelihood strategy means better employment opportunities,higher family income(or better income structure),and stronger employability or development *** paper classifies different types of farmers’poverty on the basis of a quantitative evaluation of farmers’livelihood capital in the Qin-ba Mountain Area in South-Shaanxi by using the k-means clustering method and subsequently the fuzzy evaluation method to evaluate the effectiveness of farmers’livelihood ***,the multi-attribute decision-making model is used to analyze the selection of optimal livelihood strategies for different poverty-type *** results suggest a significant difference in the selection of the optimal livelihood strategy for different poverty-type *** without financial and human capital choose to"go out to work,"farmers lacking natural capital choose to"acquire social insurance and government relief,"farmers without physical capital choose to"use loans,"and farmers lacking social capital choose to"use savings."Studying the selection of optimal livelihood strategies for different poverty-type farmers can help to propose targeted sustainable livelihood optimization programs for farmers and accelerate efforts to overcome poverty in mountainous areas.

关键词： Optimal strategy Livelihood capital Effectiveness evaluation Qin-Ba Mountain Area Shaanxi

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Self-assembly Behavior of Rod-Coil-Rod Triblock Copolymers within a Planar Slit

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Chinese Journal of Polymer Science 2016年第7期34卷 838-849页

作者： ya-juan su 黄建花 Department of Chemistry Zhejiang Sci-Tech University Hangzhou 310018 China

The self-assembly behavior of sphere-forming R_5C_（30）R_5 triblock copolymers within a planar slit is studied by performing dissipative particle dynamics simulations. A sequence of novel structures which are not observed in bulk are formed within slits, including wetting layers, island-like structure, parallel cylinders, perpendicular cylinders and crosscylindrical structures. Perpendicular cylinders are always formed before the increase in the layers of parallel cylinders. A phase diagram of the assembled structures with respective to the slit property and height is thus presented. The rod length is found to have a significant impact on the rod alignment, and a disordered-ordered transition of rod orientation occurs with an increase in the length of rod blocks. Some special structures, such as parallel half-cylinders and arrowhead-shaped morphology, are observed when the rod length increases to a certain extent. Our results show that the property and height of the slit and rod length all influence the self-assembly of rod-coil-rod triblock copolymers.

关键词： Self-assembly Triblock copolymers Slit Simulation

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Stereoselective synthesis of biodegradable polymers by salen-type metal catalysts

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Science China Chemistry 2022年第11期65卷 2096-2121页

作者： Xi Liao ya su Xiaoyan Tang Beijing National Laboratory for Molecular Sciences Key Laboratory of Polymer Chemistry and Physics of Ministry of EducationCenter for Soft Matter Science and EngineeringCollege of Chemistry and Molecular EngineeringPeking UniversityBeijing 100871China

Biodegradable polymers are a promising sustainable alternative to conventional petroleum-based polymers and have attracted recent extensive research interest due to their potential environmental friendliness and sustainability. Among them, aliphatic polyesters and polycarbonates are the most extensively studied ones. The metal-catalyzed ring-opening polymerization(ROP) of cyclic esters and ring-opening copolymerization(ROCOP) of epoxides with anhydrides or CO_(2) are often considered to be the classic and efficient methods to synthesize stereoregular polymers. Moreover, the versatile salen-type metal complexes have been used to prepare almost all types of biodegradable polymers with excellent stereoselectivity control. Hence, this review focuses on stereoselective synthesis of biodegradable polymers by salen-type metal catalysts developed in the last *** polyesters from ROP of cyclic esters, ROCOP of epoxides with cyclic anhydrides, and carbonylative polymerization of epoxides, as well as aliphatic poly(thio)carbonate from ROCOP of epoxides with CO_(2) or COS are discussed in detail. This review highlights the polymerization mechanisms, catalyst characteristics, and factors controlling the stereoselectivity of each polymerization reaction, aiming to provide general rules for the future design of stereoselective catalysts.

关键词： stereoselective ring-opening(co)polymerization salen-based metal complexes biodegradable polymers polyesters poly(thio)carbonates

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Unraveling the condensation reactions of heterometallic {BiNb_(4)} moieties into hybrid Bi_(x)Nb_(y)-oxo clusters with mass spectrometry

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Science China Chemistry 2021年第3期64卷 413-418页

作者： lv-Bing Yuan ya-Yong sun Jian Zhang Lei Zhang State Key Laboratory of Structural Chemistry Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002China University of Chinese Academy of Sciences Beijing 100049China

The most effective methodologies for the construction of polynuclear complexes usually take advantage of preorganized building ***,we successfully developed a new versatile heterometallic{BiNb_(4)}moiety,which can be applied for the assembly of less explored organic-inorganic hybrid *** controlled condensation reactions,three{BiNb_(4)}moieties can be assembled into a pair of isomeric Bi_(3)Nb_(18)clusters at different temperatures;whilst four{BiNb_(4)}moieties can be combined into two unique Bi_(4)Nb_(16)and Bi_(4)Nb_(18)tetramers in different ***,we have used mass spectrometry to probe the above condensation reactions,which clearly confirmed a stepwise bottom-up assembly process by capturing the presence of bismuth subsalicylate precursors,salicylate coordinated intermediates,Nb incorporated{BiNb_(4)}moieties and the final Bi_(x)Nb_(y)-oxo clusters,***,the packing modes of the{BiNb_(4)}units induce different solution behaviors,and the{BiNb_(4)}units in Bi4Nb16can be recombined by post-synthetic recrystallization in acetonitrile to produce a new tetramer Bi_(4)Nb_(18)-***,this work provides not only a useful{BiNb_(4)}building unit but also the mechanism for their condensation,both of which will promote the future development of metal-oxo clusters.

关键词： cluster compounds mass spectrometry heterometallic complexes condensation reactions

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Hybrid Flowshop Scheduling with Interstage Job Transportation

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Journal of the Operations Research Society of China 2014年第1期2卷 109-121页

作者： Wei-ya Zhong Long-hua lv Department of Business Administration School of ManagementShanghai University200444 ShanghaiPeople’s Republic of China Department of Mathematics Shanghai University200444 ShanghaiPeople’s Republic of China

There are a variety of joint job production and transportation scheduling problems that arise in modern manufacturing *** this paper,we study one of such problems that arises in a flowshop environment where there are two processing stages and a single transporter that is available to deliver the finished jobs from the first stage to the *** is a single machine in the first stage and two parallel machines in the second *** transporter can carry only one job in each *** job is first processed on the single machine at stage one,then transported to and processed on one of the two parallel machines at stage *** objective is to minimize the makespan,i.e.,the completion time of the last job in the second *** this problem is strongly NP-hard,we propose a fast heuristic and show that the heuristic has a worst-case bound of 5/*** also conduct1 numerical experiments to evaluate the average performance of this heuristic.

关键词： Hybrid flowshop scheduling Transportation Approximation heuristic

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