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| 1 | Design of Time-constrained Guidance Laws via Virtual Leader Approach显示文摘Guidance problems with flight time constraints are considered in this article.A new virtual leader scheme is used for design of guidance laws with time constraints.The core idea of this scheme is to adopt a virtual leader for real missiles to convert a guidance problem with time constraints to a nonlinear tracking problem,thereby making it possible to settle the problem with a variety of control methods.A novel time-constrained guidance(TCG) law,which can control the flight time of missiles to a prescribed time,is designed by using the virtual leader scheme and stability method.The TCG law is a combination of the well-known proportional navigation guidance(PNG) law and the feedback of flight time error.What's more,this law is free of singularities and hence yields better performances in comparison with optimal guidance laws with time constraints.Nonlinear simulations demonstrate the effectiveness of the proposed law. | Zhao Shiyu Zhou Rui Wei Chen Ding Quanxin | 2010 | Chinese Journal of Aeronautics2010，23，1： | 36 |
| 2 | Stem cell-based bone and dental regeneration: a view of microenvironmental modulation显示文摘In modern medicine,bone and dental loss and defects are common and widespread morbidities,for which regenerative therapy has shown great promise.Mesenchymal stem cells,obtained from various sources and playing an essential role in organ development and postnatal repair,have exhibited enormous potential for regenerating bone and dental tissue.Currently,mesenchymal stem cells (MSCs)-based bone and dental regeneration mainly includes two strategies: the rescue or mobilization of endogenous MSCs and the application of exogenous MSCs in cytotherapy or tissue engineering.Nevertheless,the efficacy of MSCbased regeneration is not always fulfilled,especially in diseased microenvironments.Specifically,the diseased microenvironment not only impairs the regenerative potential of resident MSCs but also controls the therapeutic efficacy of exogenous MSCs,both as donors and recipients.Accordingly,approaches targeting a diseased microenvironment have been established,including improving the diseased niche to restore endogenous MSCs,enhancing MSC resistance to a diseased microenvironment and renormalizing the microenvironment to guarantee MSC-mediated therapies.Moreover,the application of extracellular vesicles (EVs) as cell-free therapy has emerged as a promising therapeutic strategy.In this review,we summarize current knowledge regarding the tactics of MSC-based bone and dental regeneration and the decisive role of the microenvironment,emphasizing the therapeutic potential of microenvironment-targeting strategies in bone and dental regenerative medicine. | Chenxi Zheng Ji Chen Shiyu Liu Yan Jin | 2019 | International Journal of Oral Science2019，11，3： | 18 |
| 3 | Circulating apoptotic bodies maintain mesenchymal stem cell homeostasis and ameliorate osteopenia via transferring multiple cellular factors显示文摘 | Dawei Liu Xiaoxing Kou Chider Chen Shiyu Liu Yao Liu Wenjing Yu Tingting Yu Ruili Yang Runci Wang Yanheng Zhou Songtao Shi | 2018 | Cell Research2018，28，9： | 17 |
| 4 | The program structure designing and optimizing tests of GRAPES physics显示文摘According to the modularization and standardization of program structure in Global/Regional Assimilation and Prediction System (GRAPES), the plug-compatible and transplantable regional meso-scale and global middle-range physics software package is established. The package's component integrality is comparative with the other advanced models physics. A three-level structure of connecting GRAPES physics and dynamic frame has been constructed. The friendly interface is designed for users to plug in their own physics packages. Phenomenon of grid-point storm rainfall in numerical prediction is analyzed with the numerical tests. The scheme of air vertical velocity calculation is improved. Optimizing tests of physics schemes are performed with the correlative parameters adjusting. The results show that the false grid-point storm rainfall is removed by precipitation scheme improving. Then the score of precipitation forecast is enhanced. | XU GuoQiang CHEN DeHui XUE JiShan SUN Jian SHEN XueShun SHEN YuanFang HUANG LiPing WU XiangJun ZHANG HongLiang WANG ShiYu | 2008 | Chinese Science Bulletin2008，53，22： | 11 |
| 5 | Metal release/accumulation during the decomposition of Potamogeton crispus in a shallow macrophytic lake显示文摘Changes in metal concentrations in the litter of Potamogeton crispus were monitored during a consecutive 40-day in situ decomposition experiment using the litterbag method.The accumulation index was calculated and used to indicate the changes in the metals in litter.The results showed that the concentrations of Al,Cd,Cr,Fe,Mn,and Pb in litter increased significantly during the decomposition,while Cu and Zn concentrations decreased dramatically.Significant positive correlations were found between the concentrations of Al,Cr,Fe,and Mn and between Cu and Zn.Moreover,Cu and Zn both negatively correlated with Al and Fe.The remaining dry mass was negatively correlated with Al and Fe concentrations but positively correlated with Cu and Zn concentrations.Generally the accumulation index values of metals other than Al were less than one,indicating that the litter of P.crispus acted as a source of metals to the surrounding water body.Al was the only metal that showed continuous net accumulation in litter.The net accumulation of Fe and Mn in litter during the last 10 days of the experiment may indicate the precipitation of Feand Mn-oxides.It was estimated that 160 g/m^2(dry weight)P.crispus was decomposed in40 days.This was equivalent to releasing the following amounts of metals:0.01 mg Cd,0.03 mg Cr,0.71 mg Cu,0.55 mg Mn,0.02 mg Pb and 13.8 mg Zn into surrounding water,and accumulating 149 mg Al and 11 mg Fe,in a 1 m^2 area. | Huanguang Deng Ju Zhang Shiyue Chen Liwei Yang Dongqi Wang Shiyong Yu | 2016 | Journal of Environmental Sciences2016，28，4： | 10 |
| 6 | A two-step lineage reprogramming strategy to generate functionally competent human hepatocytes from fibroblasts显示文摘Terminally differentiated cells can be generated by lineage reprogramming,which is,however,hindered by incomplete conversion with residual initial cell identity and partial functionality. Here, we demonstrate a new reprogramming strategy by mimicking the natural regeneration route, which permits generating expandable hepatic progenitor cells and functionally competent human hepatocytes. Fibroblasts were first induced into human hepatic progenitor-like cells (hHPLCs), which could robustly expand in vitro and efficiently engraft in vivo. Moreover, hHPLCs could be efficiently induced into mature human hepatocytes (hiHeps) in vitro, whose molecular identity highly resembles primary human hepatocytes (PHHs). Most importantly, hiHeps could be generated in large quantity and were functionally competent to replace PHHs for drug-metabolism estimation, toxicity prediction and hepatitis B virus infection modeling. Our results highlight the advantages of the progenitor stage for successful lineage reprogramming. This strategy is promising for generating other mature human cell types by lineage reprogramming. | Bingqing Xie Da Sun Yuanyuan Du Jun Jia Shicheng Sun Jun Xu Yifang Liu Chengang Xiang Sitong Chen Huangfan Xie Qiming Wang Guangya Li Xuehui LYU Hui Shen Shiyu Li Min Wu Xiaonan Zhang Yue Pu Kuanhui Xiang Weifeng Lai Peng Du Zhenghong Yuan Cheng Li Yan Shi Shichun Lu Hongkui Deng | 2019 | Cell Research2019，29，9： | 9 |
| 7 | Effects of tetrahedral framework nucleic acid/wogonin complexes on osteoarthritis显示文摘Osteoarthritis, a disorder characterized by articular cartilage deterioration, varying degrees of inflammation, and chondrocyte apoptosis, is the most common chronic joint disease. To slow or reverse its progression, inflammation should be inhibited, and chondrocyte proliferation should be promoted. Tetrahedral framework nucleic acids can be internalized by chondrocytes(even inflammatory chondrocytes) and can enhance their proliferation and migration. Wogonin, a naturally occurring flavonoid,suppresses oxidative stress and inhibits inflammation. In this study, tetrahedral framework nucleic acids were successfully selfassembled and used to load wogonin. We confirmed the effective formation of tetrahedral framework nucleic acid/wogonin complexes by dynamic light scattering, zeta potential analysis, transmission electron microscopy, and fluorescence spectrophotometry. Tetrahedral framework nucleic acids, wogonin, and especially tetrahedral framework nucleic acid/wogonin complexes effectively alleviated inflammation in vitro and in vivo and prevented cartilage destruction. In addition, these materials remarkably downregulated the expression of inflammatory mediators and matrix metalloproteinases, upregulated chondrogenic markers, and promoted tissue inhibitor of metalloproteinase 1 and B-cell lymphoma 2 expression. In vivo, after treatment with tetrahedral framework nucleic acid/wogonin complexes, the bone mineral density in regenerated tissues was much higher than that found in the untreated groups. Histologically, the complexes enhanced new tissue regeneration, significantly suppressed chondrocyte apoptosis, and promoted chondrogenic marker expression. They also inhibited cell apoptosis, increased chondrogenic marker expression, and suppressed the expression of inflammatory mediators in osteoarthritis. Therefore, we believe that tetrahedral framework nucleic acid/wogonin complexes can be used as an injectable form of therapy for osteoarthritis. | Sirong Shi Yang Chen Taoran Tian Songhang Li Shiyu Lin Yuxin Zhang Xiaoru Shao Tao Zhang Yunfeng Lin Xiaoxiao Cai | 2020 | Bone Research2020，8，1： | 9 |
| 8 | Allele-aware chromosome-level genome assembly of Artemisia annua reveals the correlation between ADS expansion and artemisinin yield显示文摘Artemisia annua is the major natural source of artemisinin,an anti-malarial medicine commonly used worldwide.Here,we present chromosome-level haploid maps for two A.annua strains with different artemisinin contents to explore the relationships between genomic organization and artemisinin production.High-fidelity sequencing,optical mapping,and chromatin conformation capture sequencing were used to assemble the heterogeneous and repetitive genome and resolve the haplotypes of A.annua.Approximately 5o,ooo genes were annotated for each haplotype genome,and a triplication event that occurred approximately 58.12million years ago was examined for the first time in this species.A total of 3,903,467-5,193,414 variants(SNPs,indels,and structural variants)were identified in the 1.5-Gb genome during pairwise comparison between haplotypes,consistent with the high heterozygosity of this species.Genomic analyses revealed a correlation between artemisinin concents and the copy number of amorpha-4,11-dienes ynthasegenes.This correlation was further confirmed by resequencing of 36A.annua samples with varied artemisinin contents.Circular consensus sequencing of transcripts facilitated the detection of paralog expression.Collectively,our study provides chromosome-level allele-aware genome assemblies for two A.annua strains and new insights into the biosynthesis of artemisinin and its regulation,which will contribute to conquering malaria worldwide. | Baosheng Liao Xiaofeng Shen Li Xiang Shuai Guo Shiyu Chen Ying Meng Yu Liang Dandan Ding Junqi Bai Dong Zhang Tomasz Czechowski Yi Li Hui Yao Tingyu Mai Caroline Howard Chao Sun Haitao Liu Jiushi Liu Jin Pei Jihai Gao Jigang Wang Xiaohui Qiu Zhihai Huang Hongyi Li Ling Yuan Jianhe Wei lan Graham Jiang Xu Boli Zhang Shilin Chen | 2022 | Molecular Plant2022，15，8： | 9 |
| 9 | Hierarchical Manganese Oxide/Carbon Nanocomposites for Supercapacitor Electrodes显示文摘有装载的层次毛孔结构和可控制的 MnO2 的 MnO2/carbon nanocomposites 用一个自我限制的生长方法被综合了。这被 KMnO4 的氧化还原作用反应与包含层次毛孔的牺牲的碳底层完成。唯一的毛孔结构允许 nanocomposites 的合成,悦耳的 MnO2 装载直到 83 wt.% 。nanocomposites 的特定的电容增加了, MnO2 装载;在另一方面,电气化学的阻抗光谱学测量的传导性与增加装载的 MnO2 减少了。装载的 MnO2 的优化与高特定的电容和优秀的率能力导致了 nanocomposites。这个工作提供将为应用的一个大变化便于高效的 supercapacitor 材料的设计和制造的重要基本理解。 | Yiting Peng Zheng Chen Jing Wen Qiangfeng Xiao Ding Weng Shiyu He Hongbin Geng Yunfeng Lu | 2011 | Nano Research2011，4，2： | 8 |
| 10 | Geological characteristics of shale rock system and shale oil exploration breakthrough in a lacustrine basin:A case study from the Paleogene 1st sub-member of Kong 2 Member in Cangdong sag,Bohai Bay Basin,China显示文摘A deep understanding of the basic geologic characteristics of the fine-grained shale layers in the Paleogene 1 st sub-member of Kong 2 Member(Ek_2~1) in Cangdong sag, Bohai Bay Basin, is achieved through observation of 140 m continuous cores and systematic analysis of over 1 000 core samples from two wells. Basic geological conditions for shale oil accumulation are proposed based on the unconventional geological theory of oil and gas. The shale rock system mainly developed interbedded formation of felsic shale, calcareous and dolomitic shale and carbonates; high quality hydrocarbon source rock formed in the stable and closed environment is the material base for shale oil enrichment; intergranular pores in analcite, intercrystalline pores in dolomite and interlayer micro-fractures make tight carbonate, calcareous and dolomitic shale and felsic shale effective reservoirs, with brittle mineral content of more than 70%; high abundance laminated shale rock in the lower section of Ek_2~1 is rich in shale oil, with a total thickness of 70 m, burial depth between 2 800 to 4 200 m, an average oil saturation of 50%, a sweet spot area of 260 km^2 and predicted resources of over 5×10~8 t. Therefore, this area is a key replacement domain for oil exploration in the Kongdian Formation of the Cangdong sag. At present, the KN9 vertical well has a daily oil production of 29.6 t after fracturing with a 2 mm choke. A breakthrough of continental shale oil exploration in a lacustrine basin is expected to be achieved by volume fracturing in horizontal wells. | ZHAO Xianzheng ZHOU Lihong PU Xiugang JIN Fengming HAN Wenzhong XIAO Dunqing CHEN Shiyue SHI Zhannan ZHANG Wei YANG Fei | 2018 | Petroleum Exploration and Development2018，45，3： | 8 |
| 11 | Tumor microenvironments self-activated nanoscale metal-organic frameworks for ferroptosis based cancer chemodynamic/photothermal/chemo therapy显示文摘Ferroptosis,as a newly discovered cell death form,has become an attractive target for precision cancer therapy.Several ferroptosis therapy strategies based on nanotechnology have been reported by either increasing intracellular iron levels or by inhibition of glutathione(GSH)-dependent lipid hydroperoxidase glutathione peroxidase 4(GPX4).However,the strategy by simultaneous iron delivery and GPX4 inhibition has rarely been reported.Herein,novel tumor microenvironments(TME)-activated metal-organic frameworks involving Fe&Cu ions bridged by disulfide bonds with PEGylation(FCSP MOFs)were developed,which would be degraded specifically under the redox TME,simultaneously achieving GSH-depletion induced GPX4 inactivation and releasing Fe ions to produce ROS via Fenton reaction,therefore causing ferroptosis.More ROS could be generated by the acceleration of Fenton reaction due to the released Cu ions and the intrinsic photothermal capability of FCSP MOFs.The overexpressed GSH and H2O2 in TME could ensure the specific TME self-activated therapy.Better tumor therapeutic efficiency could be achieved by doxorubicin(DOX)loading since it can not only cause apoptosis,but also indirectly produce H2O2 to amplify Fenton reaction.Remarkable anti-tumor effect of obtained FCSP@DOX MOFs was verified via both in vitro and in vivo assays. | Yu Liang Li Zhang Chao Peng Shiyu Zhang Siwen Chen Xin Qian Wanxian Luo Qing Dan Yongyan Ren Yingjia Li Bingxia Zhao | 2021 | Acta Pharmaceutica Sinica B2021，11，10： | 7 |
| 12 | Study on the promotion of lymphocytes in patients with COVID-19 by broad-spectrum chemokine receptor inhibitor vMIP-Ⅱ and its Mechanism of signal transmission in vitro显示文摘Dear Editor,COVID-19 cases showed a significant decrease in the number of peripheral CD4^(+) and CD8^(+)T cells accompanied by overactivation of cells.1 HHV8-derived viral macrophage inflammatory protein vMIP-Ⅱ is the only broad-spectrum chemokine receptor inhibitor that binds to three subtribes of chemokine receptors,which can significantly increase the specific cell immune response in infected organisms and have an effect of reducing plasma viral load on the viremia period.24 Here we report the effect of vMIP-Ⅱ in COVID-19. | Shiyu Li Shuting Liu Zhenyou Jiang Lixia Feng Yong Gao Youyu Chen Anding Xu Wenhua Huang Nuofu Zhang Hanxiao Sun | 2021 | Signal Transduction and Targeted Therapy2021，6，4： | 5 |
| 13 | T cell-depleting nanoparticles ameliorate bone loss by reducing activated T cells and regulating the Treg/Th17 balance显示文摘Estrogen deficiency is one of the most frequent causes of osteoporosis in postmenopausal women.Under chronic inflammatory conditions caused by estrogen deficiency,activated T cells contribute to elevated levels of proinflammatory cytokines,impaired osteogenic differentiation capabilities of bone marrow mesenchymal stem cells(BMMSCs),and disturbed regulatory T cell(Treg)/Th17 cell balance.However,therapeutic strategies that re-establish immune homeostasis in this disorder have not been well developed.Here,we produced T cell-depleting nanoparticles(TDNs)that ameliorated the osteopenia phenotype and rescued the osteogenic deficiency of BMMSCs in ovariectomized(OVX)mice.TDNs consist of monocyte chemotactic protein-1(MCP-1)-encapsulated mesoporous silica nanoparticles as the core and Fas-ligand(FasL)as the corona.We showed that the delicate design of the TDNs enables rapid release of MCP-1 to recruit activated T cells and then induces their apoptosis through the conjugated FasL both in vitro and in vivo.Apoptotic signals recognized by macrophages help skew the Treg/Th17 cell balance and create an immune tolerant state,further attenuating the osteogenic deficiency of BMMSCs and the osteopenia phenotype.Mechanistically,we found that the therapeutic effects of TDNs were partially mediated by apoptotic T cell-derived extracellular vesicles(ApoEVs),which promoted macrophage transformation towards the M2 phenotype.These findings demonstrate that TDNs may represent a promising strategy for treating osteoporosis and other immune disorders. | Xiaoshan Yang Fuxing Zhou Pingyun Yuan Geng Dou Xuemei Liu Siying Liu Xiangdong Wang Ronghua Jin Yan Dong Jun Zhou Yajie Lv Zhihong Deng Shiyu Liu Xin Chen Ying Han Yan Jin | 2021 | Bioactive Materials2021，6，10： | 4 |
| 14 | STUDY ON THE OVERALL PRESSURE BALANCE OF A DOWNFLOW CIRCULATING FLUIDIZED BED SYSTEM显示文摘A pressure balance model for a circulating fluidized bed unit that incorporates a downer has been pro- posed. The model predictions were validated with the experimental data obtained from a special cold-model circulating fluidized bed. Comparison of the operation stability between a CFB downer and a CFB riser has been carried out. Only one critical gas velocity exists in the CFB-riser for a given riser solids flux, while there can be many critical gas velocities for the operation of a CFB downer. Therefore, it is possible to achieve high solids concentration in a CFB downer if ap- propriate operating conditions are used. | Hengzhi Chen Dawei Yang Hongzhong Li Shiyu Tan | 2006 | China Particuology2006，4，3： | 4 |
| 15 | Overexpression of SIRT3 disrupts mitochondrial proteostasis and cell cycle progression显示文摘 | Xiaofei Wang Haiping Tang Yuling Chen Binghuan Chi Shiyu Wang Yang Lv Di WU Renshan Ge Haiteng Deng | 2016 | Protein & Cell2016，7，4： | 3 |
| 16 | Effect of Acetic Acid Prehydrolysis on Unbleached Bamboo Pulp Production显示文摘Bamboo was used as raw material for unbleached pulp production.An acetic acid prehydrolysis process was employed before the pulping process.The effect of acetic acid prehydrolysis on pulp properties was investigated.The results showed that some components,such as hemicellulose and extractives,were degraded or dissolved in the prehydrolysis process prior to kraft pulping.SEM images of the substrate after treatment indicated that the parenchyma cell wall was thinner,and the size of pores between fiber bundle cell walls was larger.The pulping results showed that acetic acid prehydrolysis could improve the pulp quality and make the pulp easier to bleach.The brightness of the pulp reached 59.6%ISO with a single oxygen delignification step.The acetic acid prehydrolysis decreased pulp viscosity and fiber length,but not significantly.The amount of parenchyma cells in the pulp was reduced,which was beneficial for papermaking and improving mechanical strength of paper.This procedure has good potential for unbleached pulp production. | YangYang Peng ChenYin Chen Ying Wang ShiYu Fu | 2018 | Paper And Biomaterials2018，3，3： | 3 |
| 17 | Breakthrough Technologies for the Biorefining of Organic Solid and Liquid Wastes显示文摘有机固液废弃物包含大量能量、养分和水分,不应仅视其为废物。数十年来,人们一直对城市固体废物进行回收、堆制和燃烧,并从中提取能量和有价值的物质。污水的首要管理策略是治理和排放。随着技术的进步,通过新方法使利用固体废物和废水成为可能。考虑到废物特殊的化学、物理和生物性质,需要整合多种技术以使废物的能量和价值回收最大化。为此,生物炼制是完全利用废物中的能量和价值的一个合适的方法。研究证明,不可回收废弃物和生物固体可通过不同方法转化为可利用的热能、电能、燃料和化学品,并且液体废物或能帮助农作物和藻类的成长,为能量回收和食物生产提供不同的选择。本文针对有机固液废物提出新型生物炼制方案,这些废物来源于城市废料、食品和生物加工厂以及动物生产设施。四大新型突破性科技——真空辅助高温厌氧消化、扩展鱼菜共生系统、含油废物经甘油裂解制取生物柴油和微波辅助热化学转化,均可运用于生物炼制方案中,从而成功将废物转化,用以生产化学品、化肥、能量(沼气、合成气、生物柴油和生物油)、食物、饲料,得到干净的水并显著减少污染物的排放。 | Paul Chen Erik Anderson Min Addy Renchuan Zhang Yanling Cheng Peng Peng Yiwei Ma Liangliang Fan Yaning Zhang Qian Lu Shiyu Liu Nan Zhou Xiangyuan Deng Wenguang Zhou Muhammad Omar Richard Griffith Faryal Kabir Hanwu Lei Yunpu Wang Yuhuan Liu Roger Ruan | 2018 | Engineering2018，4，4： | 3 |
| 18 | Engineered neutrophil apoptotic bodies ameliorate myocardial infarction by promoting macrophage efferocytosis and inflammation resolution显示文摘Inflammatory response plays a critical role in myocardial infarction(MI)repair.The neutrophil apoptosis and subsequent macrophage ingestion can result in inflammation resolution and initiate regeneration,while the therapeutic strategy that simulates and enhances this natural process has not been established.Here,we constructed engineered neutrophil apoptotic bodies(eNABs)to simulate natural neutrophil apoptosis,which regulated inflammation response and enhanced MI repair.The eNABs were fabricated by combining natural neutrophil apoptotic body membrane which has excellent inflammation-tropism and immunoregulatory properties,and mesoporous silica nanoparticles loaded with hexyl 5-aminolevulinate hydrochloride(HAL).The eNABs actively targeted to macrophages and the encapsulated HAL simultaneously initiated the biosynthesis pathway of heme to produce anti-inflammatory bilirubin after intracellular release,thereby further enhancing the anti-inflammation effects.In in vivo studies,the eNABs efficiently modulated inflammation responses in the infarcted region to ameliorate cardiac function.This study demonstrates an effective biomimetic construction strategy to regulate macrophage functions for MI repair. | Lili Bao Geng Dou Ran Tian Yajie Lv Feng Ding Siying Liu Ruifeng Zhao Lu Zhao Jun Zhou Lin Weng Yan Dong Bei Li Shiyu Liu Xin Chen Yan Jin | 2022 | Bioactive Materials2022，7，3： | 3 |
| 19 | A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing:An indication of primary immunodeficiency显示文摘Objective: To investigate immune-related genetic background in bilateral sudden sensorineural hearing loss(SSNHL).Case report and methods: The case is a 45-year-old man presenting with a 7-year history of bilateral profound SSNHL. Blood biochemical testing demonstrated increased levels of total cholesterol(5.88 mmol/L). Tests for hepatitis B showed a positive antibody against the hepatitis B core antigen. Complement C3 was below the normal value, and complement C4 and Ig G were in the lower range of normal values. CT images showed a normal inner ear and vestibular aqueduct but round window membranous ossification on both sides. A total number of 232 immuneassociated genes were sequenced using the next generation sequencing technique.Results: Mutations were detected in 5 genes, including the phosphoinositide 3-kinase catalytic subunit delta(PIK3CD), caspase recruitment domain-containing protein 9(CARD9), complement factor H-related(CFHR2), immunoglobulin lambda-like polypeptide 1 Protein(IGLL1),and transmembrane channel-like gene family 8(TMC8). In the PIK3 CD gene, a C896 T substitute in exon 7 was detected. This mutation causes primary immunodeficiency and is an autosomal dominant disease.Conclusion: The PIK3 CD C896T mutation responsible for primary immunodeficiency may contribute to the onset of bilateral SSNHL with subsequent rapid progression. | Jing Zou Xiangqiang Duan Guiliang Zheng Zhen Zhao Shiyue Chen Pu Dai Hongliang Zheng | 2016 | Journal of Otology2016，11，2： | 3 |
| 20 | Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature显示文摘Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. | Xin Fan Sen Zhao Chenxi Yu Di Wu Zihui Yan Lijun Fan Yanning Song Yi Wang Chuan Li Yue Ming Baoheng Gui Yuchen Niu Xiaoxin Li Xinzhuang Yang Shiyu Luo Qiang Zhang Xiuli Zhao Hui Pan Mei Li Weibo Xia Guixing Qiu Pengfei Liu Shuyang Zhang Jianguo Zhang Zhihong Wu James R.Lupski Jennifer E.Posey Shaoke Chen Chunxiu Gong Nan Wu | 2021 | Journal of Genetics and Genomics2021，48，5： | 2 |
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