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| 1 | Estimation of biomass in wheat using random forest regression algorithm and remote sensing data显示文摘Wheat biomass can be estimated using appropriate spectral vegetation indices.However,the accuracy of estimation should be further improved for on-farm crop management.Previous studies focused on developing vegetation indices,however limited research exists on modeling algorithms.The emerging Random Forest(RF) machine-learning algorithm is regarded as one of the most precise prediction methods for regression modeling.The objectives of this study were to(1) investigate the applicability of the RF regression algorithm for remotely estimating wheat biomass,(2) test the performance of the RF regression model,and(3) compare the performance of the RF algorithm with support vector regression(SVR) and artificial neural network(ANN) machine-learning algorithms for wheat biomass estimation.Single HJ-CCD images of wheat from test sites in Jiangsu province were obtained during the jointing,booting,and anthesis stages of growth.Fifteen vegetation indices were calculated based on these images.In-situ wheat above-ground dry biomass was measured during the HJ-CCD data acquisition.The results showed that the RF model produced more accurate estimates of wheat biomass than the SVR and ANN models at each stage,and its robustness is as good as SVR but better than ANN.The RF algorithm provides a useful exploratory and predictive tool for estimating wheat biomass on a large scale in Southern China. | Li'ai Wang Xudong Zhou Xinkai Zhu Zhaodi Dong Wenshan Guo | 2016 | The Crop Journal2016，4，3： | 30 |
| 2 | A detailed procedure for CRISPR/Cas9-mediated gene editing in Arabidopsis thaliana显示文摘The newly developed CRISPR(Clustered Regularly Interspaced Short Palindromic Repeats)/Cas(CRISPR-associated) system has emerged as an efficient tool for genome-editing, providing an alternative to classical mutagenesis and transgenic methods to study gene function and improve crop traits. CRISPR/Cas facilitates targeted gene editing through RNA-guided DNA cleavage followed by cellular DNA repair mechanisms that introduce sequence changes at the site of cleavage. Here we describe a detailed procedure for our previously developed and highly efficient CRISPR/Cas9 method that allows the generation of heritable-targeted gene mutations andcorrections in Arabidopsis. This protocol describes the strategies and steps for the selection of targets, design of single-guide RNA(sg RNA), vector construction and analysis of transgenic lines. We also offer a method to target two loci simultaneously using vectors containing two different sg RNAs. The principles described in this protocol can be applied to other plant species to generate stably inherited DNA modifications. | Wenshan Liu Xiaohong Zhu Mingguang Lei Qingyou Xia Jose Ramon Botella Jian-Kang Zhu Yanfei Mao | 2015 | Science Bulletin2015，60，15： | 18 |
| 3 | Photodegradation of methyl orange by BiOI-sensitized TiO_2显示文摘BiOI-sensitized titanium dioxide (TiO2) photocatalysts were prepared by a deposition method at room temperature and characterized by X-ray diffraction, X-ray photoelectron spectroscopy, and Brunauer-Emmett-Teller surface area measurements. The photocatalytic activities of the catalysts were evaluated for the degradation of methyl orange (MO) solution under UV and visible light irradiation. The effects of catalyst amount, initial pH value, initial concentration of MO, as well as KI amount were investigated. The repeatability of photocatalytic activity of the 1.7% BiOI/TiO2 catalyst was also tested. It is shown that BiOI sensitization enhances the photocatalytic activities of TiO2. With BiOI content increasing, the photocatalytic activities of BiOI/TiO2 under UV and visible light irradiation first increase, reaching a maximum around BiOI content of 1.7%, and then decrease with further increasing BiOI content. The 1.7% BiOI/TiO2 catalyst obviously exhibits much higher visible light photocatalytic activity than P25, and its UV light photocatalytic activity is slightly higher than that of P25. Under the conditions of a catalytic dose of 1.5 g.L-1, initial pH of 3.0, initial MO concentration of 20 mg.L-1, UV power of 300 W, and air flow rate of 0.8 L.min-1, complete degradatio is achieved within 60 min. The repeatability of photocatalytic activity of the 1.7% BiOI/TiO2 catalyst is highly reliable. | Li Huiquan Cui Yumin Hong Wenshan Hua Lin Tao Dongliang | 2012 | Rare Metals2012，31，6： | 10 |
| 4 | Performance of 3D TPN against true-arbitrarily maneuvering target for exoatmospheric interception显示文摘True proportional navigation(TPN) guidance law is widely used for exoatmospheric interception, for its robustness and ease of implementation. The performance of TPN against nonmaneuvering target or the maneuvering target with a specific acceleration had been analyzed before. However, the obtained results are not suitable for the realistic exoatmospheric interception scenario,since the target may maneuver along an arbitrary direction with an arbitrary but upper-bounded acceleration in the threedimensional(3 D) space, which is the so-called 'true-arbitrarily maneuvering target' in this paper. With the help of the line-ofsight(LOS) rotation coordinate system, the performance of 3 D TPN against the true-arbitrarily maneuvering target is thoroughly analyzed using the Lyapunov-like approach. The upper-bound of the 3 D LOS rate is obtained, and so is that of the commanded acceleration of 3 D TPN. After that, the capture region of 3 D TPN is presented on the initial relative velocity plane. The nonlinear3 D relative kinematics between the interceptor and the target is taken into full account. Finally, the new theoretical findings are demonstrated by numerical simulations. | LI KeBo LIANG YanGang SU WenShan CHEN Lei | 2018 | Science China(Technological Sciences)2018，61，8： | 9 |
| 5 | An octree-based proxy for collision detection in large-scale particle systems显示文摘Particle systems are important building block for simulating vivid and detail-rich effects in virtual world.One of the most difficult aspects of particle systems has been detecting collisions between particles and mesh surface.Due to the huge computation,a variety of proxy-based approaches have been proposed recently to perform visually correct simulation.However,all either limit the complexity of the scene,fail to guarantee non-penetration,or are too slow for real-time use with many particles.In this paper,we propose a new octree-based proxy for colliding particles with meshes on the GPU.Our approach works by subdividing the scene mesh with an octree in which each leaf node associates with a representative normal corresponding to the normals of the triangles that intersect the node.We present a view-visible method,which is suitable for both closed and non-closed models,to label the empty leaf nodes adjacent to nonempty ones with appropriate back/front property,allowing particles to collide with both sides of the scene mesh.We show how collisions can be performed robustly on this proxy structure in place of the original mesh,and describe an extension that allows for fast traversal of the octree structure on the GPU.The experiments show that the proposed method is fast enough for real-time performance with millions of particles interacting with complex scenes. | FAN WenShan WANG Bin PAUL Jean-Claude SUN JiaGuang | 2013 | Science China(Information Sciences)2013，56，1： | 8 |
| 6 | Spinel + quartz-bearing ultrahigh-temperature granulites from Xumayao,Inner Mongolia Suture Zone,North China Craton:Petrology,phase equilibria and counterclockwise p-T path显示文摘在在北方中国 Craton 的内部蒙古缝术地区(IMSZ ) 以内的 Khondalite 带是为 Paleoproterozoic 的一个经典例子超离频温度(UHT ) 变态。这里,我们在 IMSZ 的南部的领域以内在 Xumayao 从一个新地区报导新忍受尖晶石的 metapelitic granulites。Petrological 研究并且尖晶石 + 的热力学的建模忍受石英的集合证明这些岩石以 UHT 条件经历了极端变态。尖晶石组织上发生在二背景:1 ) 高 XZn (Zn/(Mg +FeII + Zn )= 0.0710.232 ) 有在岩石矩阵的 perthitic K 长石,矽线石和石英的尖晶石;并且 2 ) 低 XZn (0.0450.070 ) 尖晶石作为在与石英和矽线石联合的石榴石 porphyroblasts 以内的包括。我们当模特儿的阶段 equilibria 在这些岩石的变形进化期间显示二个主要阶段: 1 )从 975 的在等压附近的冷却????畘慭慹?????????????朠慲畮楬整????????????????慲潴????????煥極楬牢慩?????????????胴?? | Huatian Zhang Jianghai Li Shoujie Liu Wenshan Li M. Santosh Honghao Wang | 2012 | Geoscience Frontiers2012，3，5： | 8 |
| 7 | A novel biased proportional navigation guidance law for close approach phase显示文摘A novel biased proportional navigation guidance(BPNG) law is proposed for the close approach phase, which aims to make the spacecraft rendezvous with the target in specific relative range and direction. Firstly, in order to describe the special guidance requirements, the concept of zero effort miss vector is proposed and the dangerous area where there exists collision risk for safety consideration is defined. Secondly, the BPNG, which decouples the range control and direction control, is designed in the line-of-sight(LOS) rotation coordinate system. The theoretical analysis proves that BPNG meets guidance requirements quite well. Thirdly, for the consideration of fuel consumption, the optimal biased proportional navigation guidance(OBPNG) law is derived by solving the Schwartz inequality. Finally, simulation results show that BPNG is effective for the close approach with the ability of evading the dangerous area and OBPNG consumes less fuel compared with BPNG. | Su Wenshan Yao Dangnai Li Kebo Chen Lei | 2016 | Chinese Journal of Aeronautics2016，29，1： | 5 |
| 8 | Blocking of the PD-1/PD-L1 interaction by a novel cyclic peptide inhibitor for cancer immunotherapy显示文摘The interaction of PD-1/PD-L1 allows tumor cells to escape from immune surveillance.Clinical success of the antibody drugs has proven that blockade of PD-1/PD-L1 pathway is a promising strategy for cancer immunotherapy.Here,we developed a cyclic peptide C8 by using Ph.D.-C7 C phage display technology.C8 showed high binding affinity with h PD-1 and could effectively interfere the interaction of PD-1/PD-L1.Furthermore,C8 could stimulate CD8^(+)T cell activation in human peripheral blood mononuclear cells(PBMCs).We also observed that C8 could suppress tumor growth in CT26 and B16-OVA,as well as anti-PD-1 antibody resistant B16 mouse model.CD8^(+)T cells infiltration significantly increased in tumor microenvironment,and IFN-γsecretion by CD8^(+)T cells in draining lymph nodes also increased.Simultaneously,we exploited T cells depletion models and confirmed that C8 exerted anti-tumor effects via activating CD8^(+)T cells dependent manner.The interaction model of C8 with h PD-1 was simulated and confirmed by alanine scanning.In conclusion,C8 shows anti-tumor capability by blockade of PD-1/PD-L1 interaction,and C8 may provide an alternative candidate for cancer immunotherapy. | Wenjie Zhai Xiuman Zhou Mingxia Zhai Wanqiong Li Yunhui Ran Yixuan Sun Jiangfeng Du Wenshan Zhao Lingxiao Xing Yuanming Qi Yanfeng Gao | 2021 | Science China(Life Sciences)2021，64，4： | 5 |
| 9 | The effect of erythropoietin to the proliferation of cancer cell lines显示文摘对客观调查了红细胞生成素(EPO ) 是否将支持人的癌症房间线 MCF-7, Panc-1 和 HepG2 的增长以便决定 EPO 是否将结果更坏的预后到有恶性病的病人。我们由 MTT 试金检验了禁止的生长或 EPO 的宣传效果到 MCF-7, Panc-1 和 HepG2 的方法。然后,我们检验了与 EPO 并且没有由 FCM 的 EPO 有教养的那些癌症房间线的房间周期。结果在那里显示出的结果不是禁止的重要生长或到 MCF-7, Panc-1 和 HepG2 的 EPO 的宣传效果。与 EPO 有教养的那些癌症房间线的房间周期也有不重要对没有 EPO 有教养的那些癌症房间线的不同。EPO 没有提升,这被结束的结论完成到癌症房间线的增长,并且也许不结果更坏的预后到有恶性病的病人。 | Wenshan He Tao Huang Jinghua Ren Jinghui Zhang | 2008 | The Chinese-German Journal of Clinical Oncology2008，7，6： | 3 |
| 10 | Critical function of DNA methyltransferase 1 in tomato development and regulation of the DNA methylome and transcriptome显示文摘DNA methylation confers epigenetic regulation on gene expression and thereby on various biological processes.Tomato has emerged as an excellent system to study the function of DNA methylation in plant development.To date,regulation and function of DNA methylation maintenance remains unclear in tomato plants.Here,we report the critical function of tomato(Solanum lycopersicum)Methyltransferase 1(Sl MET1)in plant development and DNA methylome and transcriptome regulation.Using CRISPR-Cas9 gene editing,we generated slmet1 mutants and observed severe developmental defects with a frame-shift mutation,including small and curly leaves,defective inflorescence,and parthenocarpy.In leaf tissues,mutations in Sl MET1 caused CG hypomethylation and CHH hypermethylationon a whole-genome scale,leading to a disturbed transcriptome including ectopic expression of many RIN target genes such as ACC2 in leaf tissues,which are normally expressed in fruits.Neither the CG hypomethylation nor CHH hypermethylation in the slmet1 mutants is related to tissue culture.Meanwhile,tissue culture induces non-CG hypomethylation,which occurs more frequently at gene regions than at TE regions.Our results depict Sl MET1-and tissue culture-dependent tomato DNA methylomes,and that Sl MET1 is required for maintaining a normal transcriptome and normal development of tomato. | Yu Yang Kai Tang Tatsiana U Datsenka Wenshan Liu Suhui Lv Zhaobo Lang Xingang Wang Jinghui Gao Wei Wang Wenfeng Nie Zhaoqing Chu Heng Zhang Avtar K HANDa Jian-Kang Zhu Huiming Zhang | 2019 | Journal of Integrative Plant Biology2019，61，12： | 3 |
| 11 | 龙门山断裂带映秀-北川断裂的古地震及其复发间隔初步研究(英文)显示文摘 | 冉勇康 Xiwei Xu Wenshan Chen Lichun Chen Shaopen Dong Hu Wang | 2010 | 国际地震动态2010，，6： | 3 |
| 12 | Performance analysis of three-dimensional differential geometric guidance law against low-speed maneuvering targets显示文摘The performance of the three-dimensional differential geometric guidance law with proportional navigation formation against a target maneuvering arbitrarily with time-varying normal acceleration is thoroughly analyzed using the Lyapunov-like approach.The validation of this guidance law is firstly proved,and then the performance issues such as capturability,heading error control efficiency,line of sight rate convergence,and commanded acceleration requirement are analyzed,under the condition that the missile is initially flying toward the target with a speed advantage.It is proved that an intercept can occur and the line of sight rate and missile commanded acceleration can be limited in certain ranges,if the initial heading error is small and the navigation gain is sufficiently large.The nonlinear relative dynamics between the missile and the target is taken into full account,and the analysis process is simple and intuitive,due to the use of a convenient line of sight rotating coordinate system.Finally,the new theoretical findings are validated by numerical simulations. | Kebo Li Wenshan Su Lei Chen | 2018 | Astrodynamics2018，2，3： | 3 |
| 13 | Corrosion Mechanism of 5083 Aluminum Alloy in Seawater Containing Phosphate显示文摘As a material with good corrosion resistance,5083 aluminum alloy has a great application prospect in marine environment.In this work,the corrosion characteristics of 5083 aluminum alloy in seawater containing phosphate were investigated with Potentiodynamic Polarization,Electrochemical Impedance Spectroscopy (EIS),Scanning Electron Microscope (SEM),Energy Dispersive Spectroscopy Analysis (EDSA),X-ray Photoelectron Spectroscopy (XPS) and Laser Confocal Microscope.The results indicated that the effects of phosphate in seawater were two-fold.Firstly,phosphate slightly accelerated the corrosion of 5083 in seawater in the early stage of corrosion.HPO_4~(2-)competed with OH~-in the adsorption process on the alloy surface,which weakened the contact between OH~-and Al~(3+)near the interface of the alloy,and inhibited the formation as well as the self-repair of the passive film,thus accelerating the activation dissolution process.Compared with the natural seawater,the charge transfer resistance of 5083 in the seawater containing phosphate decreased faster during the early stage of corrosion,and the corrosion current density i_(corr) was higher in seawater containing phosphate.On the other hand,the addition of phosphate would not affect the cluster distribution of the second phase of 5083 in seawater,but it changed the composition of the corrosion product layer and had an obvious inhibitory effect on the local corrosion of 5083 in seawater.After 16-day exposure,shallower and more sparsely distributed pits could be observed on the derusted surface of 5083 in the seawater containing phosphate,and the pitting coefficient in the seawater containing phosphate was significantly lower than that in natural seawater.The reduction of pitting tendency could be realized mainly through two ways.First,the HPO_4~(2-)adsorbed on the surface of the passive film in the early stage of corrosion and repeled the corrosive anions such as Cl~-.Second,phosphate participated in the construction of the Ca HPO_4 precipitation film,which acted as a barrier and protection. | WANG Jiaming YANG Haodong DU Min HOU Jian PENG Wenshan LIN Cunguo | 2021 | Journal of Ocean University of China2021，20，2： | 3 |
| 14 | Detecting sugarcane borer diseases using support vector machine显示文摘Based on the fact that great labor of artificial selection was needed after the sugarcane seeds were cut by the sugarcane cutting machine,and there was a misjudgment of the sugarcane borer diseases.SVM(support vector machine)method was proposed in this study to detect the sugarcane borer diseases.With the machine vision technology,together with threshold segmentation,filling and corrosion operation to process the three images of the same sugarcane whose interval is 120.The classification features,minimum average gray value and the corresponding minimum gray value were selected by adaptive threshold segmentation algorithm,and removed the region which area of 1.The study used radial basis function as the kernel function of SVM,and roughly selected the range of regularization parameters of C and kernel function parameter r.Finally,it selected the optimal parameters by the grid search and the cross validation method to identify sugarcane with diseases.The test showed that correct rate of diseases and disease-free sugarcane is 96%,95.83%for the test set,so the method can effectively complete the sugarcane borer diseases detection. | Tisen Huang Rui Yang Wenshan Huang Yiqi Huang Xi Qiao | 2018 | Information Processing in Agriculture2018，5，1： | 3 |
| 15 | Porosity Effects on Mechanical Properties of 3D Random Fibrous Materials at Elevated Temperatures显示文摘In this study,we prepare the specimens of three-dimensional random fibrous(3D RF)material along its through-the-thickness(TTT)and in-plane(IP)directions.The experimental tests of tensile and compressive properties as well as fracture toughness of 3D RF material are performed at elevated temperatures.Then,the porosity(83%,87%and 89%)and temperature dependence of the tensile and compressive strength,elastic modulus,fracture toughness and fracture surface energy of the 3D RF materials for both the TTT and IP directions are analyzed.From the results of the tensile strength and elastic modulus versus material porosities at various temperatures,we find that tensile strength and elastic modulus for the TTT direction are more sensitive to the porosity,but not for the IP direction.Fracture toughness increases firstly and then decreases at a certain critical temperature.Such critical temperature is found to be the lowest for the porosity of 83%.On the other hand,at below 1073 K,the temperature-dependent fracture surface energies with three porosities for the TTT direction show similar variation trends. | Datao Li Wenshan Yu Wei Xia Qinzhi Fang Shengping Shen | 2020 | Acta Mechanica Solida Sinica2020，33，1： | 2 |
| 16 | A lake ice phenology dataset for the Northern Hemisphere based on passive microwave remote sensing显示文摘Lake ice phenology(LIP)is an essential indicator of climate change and helps with understanding of the regional characteristics of climate change impacts.Ground observation records and remote sensing retrieval products of lake ice phenology are abundant for Europe,North America,and the Tibetan Plateau,but there is a lack of data for inner Eurasia.In this work,enhanced-resolution passive microwave satellite data(PMW)were used to investigate the Northern Hemisphere Lake Ice Phenology(PMW LIP).The Freeze Onset(FO),Complete Ice Cover(CIC),Melt Onset(MO),and Complete Ice Free(CIF)dates were derived for 753 lakes,including 409 lakes for which ice phenology retrievals were available for the period 1978 to 2020 and 344 lakes for which these were available for 2002 to 2020.Verification of the PMW LIP using ground records gave correlation coefficients of 0.93 and 0.84 for CIC and CIF,respectively,and the corresponding values of the RMSE were 11.84 and 10.07 days.The lake ice phenology in this dataset was significantly correlated(P<0.001)with that obtained from Moderate Resolution Imaging Spectroradiometer(MODIS)data-the average correlation coefficient was 0.90 and the average RMSE was 7.87 days.The minimum RMSE was 4.39 days for CIF.The PMW is not affected by the weather or the amount of sunlight and thus provides more reliable data about the freezing and thawing process information than MODIS observations.The PMW LIP dataset pro-vides the basic freeze-thaw data that is required for research into lake ice and the impact of climate change in the cold regions of the Northern Hemisphere.The dataset is available at http://gffzza4c772bdab62464fh6q99wqcuok656nxo.ffgz.tsg.suse.edu.cn/10.11922/sciencedb.j00076.00081. | Xingxing Wang Yubao Qiu Yixiao Zhang Juha Lemmetyinen Bin Cheng Wenshan Liang Matti Leppäranta | 2022 | Big Earth Data2022，6，4： | 2 |
| 17 | Monitoring the mechanical properties of the solid electrolyte interphase(SEI)using electrochemical quartz crystal microbalance with dissipation显示文摘Stable solid electrolyte interphase(SEI)has been well established to be critical for the reversible operation of Li(ion)batteries,yet our understanding of its mechanical properties currently remains incomplete.Here,we used an electrochemical quartz crystal microbalance combined with dissipation monitoring(EQCM-D)to investigate SEI formation.By quantitatively estimating in-situ,the change in mass,shear modulus,and viscosity of the SEI,we show that the SEI formation in propylene carbonate(PC)-and ethylene carbonate/diethyl carbonate(EC/DEC)-based electrolytes involves the growth of a rigid laye r followed by a viscoelastic layer,whereas a distinct'one-layer'rigid model is applicable to the SEI formulated in tetraethylene glycol dimethyl ether(TEGDME)-based electrolyte.With the continuous formation of the SEI,its shear modulus decreases accompanied by an increase in viscosity.In TEGDME,the lightest/thinnest SEI(mass lower than in PC by a factor of nine)yet having the greatest stiffness(more than five times that in PC)is obtained.We attribute this behavior to differences in the chemical composition of the SEIs,which have been revealed by tracking the mass-change-per-mole-of-electrontransferred using EQCM-D and further confirmed by X-ray photoelectron spectroscopy. | Yinguang Chai Wenshan Jia Zhiqiu Hu Song Jin Hongchang Jin Huanxin Ju Xingbin Yan Hengxing Ji Li-Jun Wan | 2021 | Chinese Chemical Letters2021，32，3： | 2 |
| 18 | Magnetostriction of Pseudobinary Compounds Pr_(0.15)Tb_xDy_(0.85-x)Fe_2(x=0 to 0.85)显示文摘The compound ingots of Pr0.15TbxDy0.85-xFe2 (x=0 to 0.85) were prepared by arc melting in a water Cu boat using arc furnace under a purified Ar atmosphere. Appropriate annealing (850℃, 100 h) can obtain single Laves phase compound. The magnetostriction for these systems will rise obviously when partially substituted Tb or Dy by Pr. | Yangxian LI and Jingping QU (Hebei University of Technology, Tianjin 300130, China) Chengchun TANG, Guangheng WU and Wenshan ZHAN (State Key Laboratory for Magnetism, Institute of Physics, CAS, BeiJing 100080, China) | 2000 | Journal of Materials Science & Technology2000，16，6： | 2 |
| 19 | Constructing dataset of classified drainage areas based on surface water-supply patterns in High Mountain Asia显示文摘The High Mountain Asia(HMA)region,ranging from the Hindu Kush and Tien Shan in thewest totheHimalaya inthe southwith an altitude between 2000 and 8844 m,holds the largest reservoir of glaciers and snow outside Earth Polar Regions.In the last decades,numerous glaciers and lake areas there have undergone tremendous changes with water redistribution.In order to increase understanding of the pattern of distribution of water resources,and their dynamic changes at the basin scale,a watershed classification based on the water replenishment patterns dataset was constructed.The input dataset are from the Randolph Glacier Inventory V.6.0 and the vector data of rivers and streams.Four datasets were thus obtained:Glacier-fed and Runoff-fed Drainage Area(GRDA),Glacier-fed and Runoff-free Drainage Area(GDA),Glacier-free and Runoff-fed Drainage Area(RDA),and the Glacier-free and Runoff-free Drainage Area(NGRDA),and the numbers of these four types of basins are 87,107,32,and 448 separately.The statistical results show GRDA has the largest surface area,accounting for 82.2%of the total basin area in HMA,mainly in the region of the basin with outflow rivers or streams.Dominated by small basins,the GDA area accounts for the smallest area,only 3.86%and the RDA accounts for 5.62%.For NGRDA,most are with small areas,accounting for 8.32%,and mainly distributes in the closed basin of the Qiangtang Plateau.This dataset provides a fundamental classified data source for research on water resources,climate,ecology,and environment in HMA.The published data are available at http://gffzz324c53c67c144612s6q99wqcuok656nxo.ffgz.tsg.suse.edu.cn/download/uuid:d07d748f-d10b-4308-9626-199ef05cc9af/and http://gffzze4f4599d7a764a8fh6q99wqcuok656nxo.ffgz.tsg.suse.edu.cn/10.11922/sciencedb.923. | Jieyu Lu Yubao Qiu Xingxing Wang Wenshan Liang Pengfei Xie Lijuan Shi Massimo Menenti Dongshui Zhang | 2020 | Big Earth Data2020，4，3： | 2 |
| 20 | Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome显示文摘Bardet-Biedl syndrome(BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity,developmental delay, and renal defects. At least 21 candidate BBS-associated genes(BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants(c.1192C>T, p.Q398* and c.1175C>T, p.T392M) in MKKS in both the siblings, and these were likely to be pathogenic variants. We also found a missense variant(c.2029G>C, p.E677Q) in NPHP1 and a missense variant(c.2470C>T, p.R824C) in BBS9 in the proband only, which are variants of uncertain significance. The compound heterozygous variants were probably responsible for the BBS phenotype in this Chinese pedigree and the missense mutations in NPHP1 and BBS9 might contribute to the mutation load. | Zhan Qi Ying Shen Qian Fu Wei Li Wei Yang Wenshan Xu Ping Chu Yaxin Zhang Hui Wang | 2017 | Science China(Life Sciences)2017，60，7： | 2 |
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