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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

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Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI Ling-rui MENG Bao-ke hou xiao-lu HAO Da-jiang WANG Ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

Spatiotemporal variation and freeze-thaw asymmetry of Arctic sea ice in multiple dimensions during 1979 to 2020

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Acta Oceanologica Sinica 2024年第3期43卷 102-114页

作者： Yu Guo xiaoli Wang He Xu Xiyong hou CAS Key Laboratory of Coastal Environmental Processes and Ecological Remediation Yantai Institute of Coastal Zone ResearchChinese Academy of SciencesYantai 264003China Shandong Key Laboratory of Coastal Environmental Processes Yantai 264003China University of Chinese Academy of Sciences Beijing 100049China

Arctic sea ice is broadly regarded as an indicator and amplifier of global climate *** rapid changes in Arctic sea ice have been widely ***,the spatiotemporal changes in the horizontal and vertical dimensions of Arctic sea ice and its asymmetry during the melt and freeze seasons are rarely quantified simultaneously based on multiple sources of the same long time *** this study,the spatiotemporal variation and freeze-thaw asymmetry of Arctic sea ice were investigated from both the horizontal and vertical dimensions during 1979–2020 based on remote sensing and assimilation *** results indicated that Arctic sea ice was declining at a remarkably high rate of–5.4×10^(4) km^(2)/a in sea ice area(SIA)and–2.2 cm/a in sea ice thickness(SIT)during 1979 to 2020,and the reduction of SIA and SIT was the largest in summer and the smallest in ***,compared with other sub-regions,SIA showed a sharper declining trend in the Barents Sea,Kara Sea,and East Siberian Sea,while SIT presented a larger downward trend in the northern Canadian Archipelago,northern Greenland,and the East Siberian *** to the seasonal trend of sea ice on sub-region scale,the reduction rate of SIA exhibited an apparent spatial heterogeneity among seasons,especially in summer and winter,i.e.,the sub-regions linked to the open ocean exhibited a higher decline rate in winter;however,the other sub-regions blocked by the coastlines presented a greater decline rate in *** SIT,the sub-regions such as the Beaufort Sea,East Siberian Sea,Chukchi Sea,Central Arctic,and Canadian Archipelago always showed a higher downward rate in all ***,a striking freeze-thaw asymmetry of Arctic sea ice was also *** sea ice changes in different dimensions,sea ice over most regions in the Arctic showed an early retreat and rapid advance in the horizontal dimension but late melting and gradual freezing in the vertical *** amount of sea ice me

关键词： Arctic sea ice sea ice area sea ice thickness spatiotemporal variation freeze-thaw asymmetry

Transcriptomic and machine learning analyses identify hub genes of metabolism and host immune response that are associated with the progression of breast capsular contracture

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Genes & Diseases 2024年第3期11卷 427-437页

作者： Yukun Mao Xueying hou Su Fu Jie Luan Breast Plastic and Reconstructive Surgery Center Plastic Surgery HospitalChinese Academy of Medical SciencesPeking Union Medical CollegeBeijing 100144China

Capsular contracture is a prevalent and severe complication that affects the post-operative outcomes of patients who receive silicone breast *** present,prosthesis replacement is the major treatment for capsular contracture after both breast augmentation procedures and breast reconstruction following breast cancer ***,the mecha-nism(s)underlying breast capsular contracture remains *** study aimed to identify the biological features of breast capsular contracture and reveal the potential underlying mechanism using RNA *** tissues from 12 female patients(15 breast capsules)were divided into low capsular contracture(LCC)and high capsular contracture(HCC)groups based on the Baker ***,41 lipid metabolism-related genes were identified through enrichment analysis,and three of these genes were identified as candidate genes by SVM-RFE and LASSO *** then compared the proportions of the 22 types of im-mune cells between the LCC and HCC groups using a CIBERSORT analysis and explored the Cor-relation between the candidate hub features and immune ***,PRKAR2B was positively correlated with the differentially clustered immune cells,which were M1 macro-phages and follicular helper T cells(area under the ROC=0.786).In addition,the expression of PRKAR2B at the mRNA or protein level was lower in the HCC group than in the LCC *** molecular mechanisms were identified based on the expression levels in the high and low PRKAR2B *** findings indicate that PRKAR2B is a novel diagnostic biomarker for breast capsular contracture and might also influence the grade and progression of capsularcontracture.

关键词： Biomarker Breastcapsular contracture Immune infiltration Machinelearning algorithms PRKAR2B

Curved anisotropic polaritons

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Frontiers of physics 2024年第3期19卷 217-224页

作者： Tao hou Yixiao Ge Shuwen Xue Huanyang Chen Department of Physics and Institute of Electromagnetics and Acoustics Xiamen UniversityXiamen 361005China Jiujiang Research Institute of Xiamen University Jiujiang 332000China

The curved surface has emerged as new research platform for understanding and manipulating novel electromagnetic behaviors in complex media. In this paper, we explore the anisotropic polaritons on the spherical surface based on Maxwell’s fish-eye metric through stereographic projection. Additionally, this phenomenon can be extended to spindle surface by conformal mapping. Our calculations and simulations demonstrate the elliptic and hyperbolic polaritons, excited by an electric dipole on the sphere, will self-focus or focus on the poles on the sphere affected by anisotropic permittivity. Furthermore, we reveal the optical singularity nature of the curved hyperbolic polaritons from the perspective of transformation optics by obtaining the equivalent optical refractive index profiles and the particle potential energy. Based on natural anisotropic materials and metamaterials, the curved polaritons have potential applications in curved surface focusing and chaos regulation. This work not only bridges the transformation optics and anisotropic polaritons at curved surface, but also provides a new route to surface optical field manipulation.

关键词： anisotropic polaritons transformation optics curved surface

Research on the Asymmetric Effect of Fixed-Asset Investment on China's Primary Energy Production in the Context of Energy Transformation

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Journal of Systems Science & Complexity 2024年第3期37卷 1163-1183页

作者： CHAI Jian HE Peng ZHANG xiaokong hou Yamin School of Economics and Management Xidian UniversityXi'an 710126China

Under China’s“Dual Carbon”target(DCT),“clean replacement”on the energy supply side and“electric energy replacement”on the energy consumption side are the ways to achieve energy ***,energy projects have a long construction period,complex technology categories,and investment risks that greatly affect the development of energy *** judging the effect of investment changes on primary energy production is of great practical significance to the realization of the *** on this,NARDL and TVP-SV-VAR models are innovatively used to reveal the nonlinear effect of fixed-asset investment on China’s primary energy *** results show that the marginal effect of investment growth on coal production is about 1.44 times that of investment ***,the marginal effect of oil and gas investment growth is about 1.21times that of investment *** to the influence of resource constraints,China’s traditional fossil energy still has varying degrees of path dependence on the investment-driven development *** non-fossil energy,investment in hydropower and nuclear power has an inverse correlation with the change in *** marginal efficiency and diseconomies of scale have hindered the development of the hydropower and nuclear power *** addition,the asymmetric effect is not yet significant for the short development time and technical constraints of wind and solar *** the impulse response results,the impact curves of investment in wind and solar power are generally positive,and investment has different degrees of time-delay and time-varying effects on various energy production,which verifies the heterogeneity of investment adjustment mechanisms in different energy industries.

关键词： "Dual Carbon"target fixed-asset investment primary energy NARDL nonlinearity

Molecular Mechanism of Rice Necrotic Lesion for Optimized Yield and Disease Resistance

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Rice science 2024年第3期31卷 285-299页

作者： hou Xinyue WANG Yuping QIAN Qian REN Deyong State Key Laboratory of Rice Biology and Breeding China National Rice Research InstituteHangzhou 310006China State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China Rice Research InstituteSichuan Agricultural UniversityChengdu 611130China

How to balance rice resistance and yield is an important issue in rice *** with mutated necrotic lesion genes often have persistent broad-spectrum resistance,but this broad-spectrum resistance usually comes at the expense of ***,many necrotic lesion mutants in rice have been identified,and these genes are involved in disease resistance *** review provides a detailed introduction to the characteristics,classification,and molecular mechanisms of necrotic lesion ***,we review the molecular regulatory pathways of genes involved in rice disease ***,we summarize the relationship between resistance and yield in rice using newly developed gene editing *** discuss a rational and precise breeding strategy to better utilize molecular design technology for breeding disease-resistant and high-yield rice varieties.

关键词： rice necrotic lesion regulation mechanism high yield high resistance

Optimization on crystallization process of the magnetic core lysozyme

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Particuology 2024年第4期87卷 106-113页

作者： Lixia hou chunxiao Qu Min Su Zhihan Liang Qi Hao School of Chemical Engineering Hebei University of TechnologyTianjin300130China

The continuous growth of the biomedical market highlights the significance of improvement in the ef-ficiency of batch production for protein drug ***,we investigated the effect of polymer-modified Fe_(3)O_(4) nanoparticles on lysozyme(Lys)crystallization at different conditions,using function-alized Fe_(3)O_(4) magnetic nanoparticles(Polymer C@Fe_(3)O_(4))as nucleation *** study revealed that the surface charge density of Polymer C@Fe_(3)O_(4) was highest at a modification mass ratio of Fe_(3)O_(4) to Polymer C is 8∶*** ratio facilitates the augmentation of electrostatic interaction and the promotion of *** adding 15%of the PolymerC@Fe_(3)O_(4) prepared from Fe_(3)O_(4) with an average particle size of 150 nm,the magnetic core lysozyme(M-Lys)crystals with an average particle size of 11.08μm,narrow size distribution,and regular morphology were obtained in a yield of 82.42%within 60 min.

关键词： Protein Crystallization Magnetic particle Lysozyme

Effect of ambient pressures on laser-induced breakdown spectroscopy signals

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Frontiers of physics 2024年第4期19卷 243-256页

作者： Kaifan Zhang Weiran Song Zongyu hou Zhe Wang State Key Laboratory of Power System Operation and Control Tsinghua-Rio Tinto Joint Research Centre for ResourcesEnergy and Sustainable DevelopmentInternational Joint Laboratory on Low Carbon Clean Energy InnovationInstitute for Carbon NeutralityDepartment of Energy and Power EngineeringTsinghua UniversityBeijing 100084China Shanxi Research Institute for Clean Energy Tsinghua UniversityTaiyuan 030032China

Laser-induced breakdown spectroscopy(LIBS)is regarded as the future superstar for analytical chemistry and widely applied in various *** the quality of LIBS signal is fundamental to achieving accurate quantification and large-scale commercialization of *** propose control methods that improve LIBS signal quality,it is essential to have a comprehensive understanding of the influence of key parameters,such as ambient gas pressure,temperature,and sample temperature on LIBS *** date,extensive research has been carried ***,different researchers often yield significantly different experimental results for LIBS,preventing the formation of consistent *** greatly prevents the understanding of influencing laws of key parameters and the improvement of LIBS quantitative *** ambient gas pressure as an example,this paper compares the effects of ambient gas pressure under different optimization conditions,reveals the influence of spatiotemporal window caused by inherent characteristics of LIBS signal sources,i.e.,intense temporal changes and spatial non-uniformity of laser-induced plasmas,on the impact patterns of key *** the perspective of plasma spatiotemporal evolution,the paper elucidates the influence patterns of ambient gas pressure on LIBS signals,clarifying seemingly contradictory research results in the literature.

关键词： laser-induced breakdown spectroscopy spatiotemporal window pressure condition signal uncertainty plasma modulation

Constrained clustering with weak label prior

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Frontiers of Computer Science 2024年第3期18卷 117-132页

作者： Jing ZHANG Ruidong FAN Hong TAO Jiacheng JIANG Chenping hou College of Sciences National University of Defense TechnologyChangsha 410073China

Clustering is widely exploited in data *** has been proved that embedding weak label prior into clustering is effective to promote its *** researches mainly focus on only one type of ***,in many real scenarios,two kinds of weak label prior information,e.g.,pairwise constraints and cluster ratio,are easily obtained or already *** to incorporate them to improve clustering performance is important but rarely *** propose a novel constrained Clustering with Weak Label Prior method(CWLP),which is an integrated *** the unified spectral clustering model,the pairwise constraints are employed as a regularizer in spectral embedding and label proportion is added as a constraint in spectral *** approximate a variant of the embedding matrix more precisely,we replace a cluster indicator matrix with its scaled *** of fixing an initial similarity matrix,we propose a new similarity matrix that is more suitable for deriving clustering *** for the theoretical convergence and computational complexity analyses,we validate the effectiveness of CWLP through several benchmark datasets,together with its ability to discriminate suspected breast cancer patients from healthy *** experimental evaluation illustrates the superiority of our proposed approach.

关键词： clustering weak label prior cluster ratio pairwise constraints