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Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice

Zoological Research 2024年第5期45卷 1073-1087页

作者： Jing-wei Ye Tanveer Abbas Jian-Teng Zhou Jing Chen Meng-Lei Yang xiong-heng Huang Huan Zhang Hui ma Ao ma Bo Xu Ghulam Murtaza Qing-Hua Shi Bao-Lu Shi Division of Reproduction and Genetics First Affiliated Hospital of University of Science and Technology of ChinaHefei National Laboratory for Physical Sciences at MicroscaleSchool of Basic Medical SciencesDivision of Life Sciences and MedicineBiomedical Sciences and Health Laboratory of Anhui ProvinceInstitute of Health and MedicineHefei Comprehensive National Science CenterUniversity of Science and Technology of ChinaHefeiAnhui 230026China Institute of Andrology Nanjing Drum Tower HospitalAffiliated Hospital of Nanjing University Medical SchoolNanjingJiangsu 210008China

Infertility represents a significant health concern,with sperm quantity and quality being crucial determinants of male ***(OAT)is characterized by reduced sperm motility,lower sperm concentration,and morphological abnormalities in sperm heads and *** variants in several genes have been implicated in OAT,its genetic etiologies and pathogenetic mechanisms remain inadequately *** this study,we identified a homozygous nonsense mutation(c.916C>T,***306*)in the coiled-coil domain containing 146(CCDC146)gene in an infertile male patient with *** mutation resulted in the production of a truncated CCDC146 protein(amino acids 1-305),retaining only two out of five coiled-coil *** validate the pathogenicity of the CCDC146 mutation,we generated a mouse model(Ccdc146^(mut/mut))with a similar mutation to that of the ***,the Ccdc146mut/mut mice exhibited infertility,characterized by significantly reduced sperm counts,diminished motility,and multiple defects in sperm heads and ***,the levels of axonemal proteins,including DNAH17,DNAH1,and SPAG6,were significantly reduced in the sperm of Ccdc146^(mut/mut) ***,both human and mouse CCDC146 interacted with intraflagellar transport protein 20(IFT20),but this interaction was lost in the mutated versions,leading to the degradation of *** study identified a novel deleterious homozygous nonsense mutation in CCDC146 that causes male infertility,potentially by disrupting axonemal protein *** findings offer valuable insights for genetic counseling and understanding the mechanisms underlying CCDC146 mutant-associated infertility in human males.

关键词： Oligoasthenoteratozoospermia Human infertility Sperm flagellum CCDC146 Intraflagellar transport IFT20

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scRNA-seq reveals that origin recognition complex subunit 6 regulates mouse spermatogonial cell proliferation and apoptosis via activation of Wnt/β-catenin signaling

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Asian Journal of Andrology 2024年第1期26卷 46-56页

作者： Shi-wei Liu Jia-qiang Luo Liang-Yu Zhao Ning-Jing Ou Chao-Yang Yu-Xiang Zhang Hao-wei Bai Hong-Fang Sun Jian-xiong Zhang Chen-Cheng Yao Peng Li Ru-Hui Tian Zheng Li Zi-Jue Zhu Department of Andrology Center for Men's HealthUrologic Medical CenterShanghai General HospitalShanghai Jiao Tong University School of MedicineShanghai 200080China State Key Lab of Reproductive Medicine Nanjing Medical UniversityNanjing 211166China Shanghai Key Lab of Reproductive Medicine Shanghai Jiao Tong University School of MedicineShanghai 200080China Department of Urology Guangdong Provincial Key Laboratory of Biomedical ImagingThe Fifth Affiliated HospitalSun Yat-sen UniversityZhuhai 519000China Department of Urology First Affiliated Hospital of Nanjing Medical UniversityNanjing 210029China

The regulation of spermatogonial proliferation and apoptosis is of great significance for maintaining *** single-cell RNA sequencing(scRNA-seq)analysis of the testis was performed to identify genes upregulated in *** scRNAseq analysis,we identified the spermatogonia upregulated gene origin recognition complex subunit 6(Orc6),which is involved in DNA replication and cell cycle regulation;its protein expression in the human and mouse testis was detected by western blot and *** explore the potential function of Orc6 in spermatogonia,the C18-4 cell line was transfected with control or Orc6 ***,5-ethynyl-2-deoxyuridine(EdU)and terminal deoxynucleotidyl transferase dUTP nick end labeling(TUNEL)assays,flow cytometry,and western blot were used to evaluate its effects on proliferation and *** was revealed that ORC6 could promote proliferation and inhibit apoptosis of C18-4 *** RNA sequencing and bioinformatics analysis indicated that Orc6 was involved in the activation of wingless/integrated(Wnt)/β-catenin *** blot revealed that the expression ofβ-catenin protein and its phosphorylation(Ser675)were significantly decreased when silencing the expression of *** findings indicated that Orc6 was upregulated in spermatogonia,whereby it regulated proliferation and apoptosis by activating Wnt/β-catenin signaling.

关键词： cell proliferation ORCG scRNA-seq analysis spermatogonia Wnt/β-catenin signaling

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Molecular dynamics simulations on the interactions between nucleic acids and a phospholipid bilayer

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Chinese Physics B 2024年第2期33卷 512-521页

作者：徐耀黄舒伟丁泓铭马余强 National Laboratory of Solid State Microstructures and Department of Physics Collaborative Innovation Center of Advanced MicrostructuresNanjing UniversityNanjing 210093China Center for Soft Condensed matter Physics and Interdisciplinary Research School of Physical Science and TechnologySoochow UniversitySuzhou 215006China

Recently,lipid nanoparticles(LNPs)have been extensively investigated as non-viral carriers of nucleic acid vaccines due to their high transport efficiency,safety,and straightforward production and ***,the molecular mechanism underlying the interactions between nucleic acids and phospholipid bilayers within LNPs remains *** this study,we employed the all-atom molecular dynamics simulation to investigate the interactions between single-stranded nucleic acids and a phospholipid *** findings revealed that hydrophilic bases,specifically G in single-stranded RNA(ssRNA)and single-stranded DNA(ssDNA),displayed a higher propensity to form hydrogen bonds with phospholipid head ***,ssRNA exhibited stronger binding energy than ***,divalent ions,particularly Ca2+,facilitated the binding of ssRNA to phospholipids due to their higher binding energy and lower dissociation rate from ***,our study provides valuable insights into the molecular mechanisms underlying nucleic acidphospholipid interactions,with potential implications for the nucleic acids in biotherapies,particularly in the context of lipid carriers.

关键词： RNA DNA lipid bilayer molecular dynamics interface interaction divalent cation

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A 256 Gb/s electronic−photonic monolithically integrated transceiver in 45 nm CMOS

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Journal of Semiconductors 2024年第7期45卷 7-10页

作者： Ang Li Qianli ma Yujun Xie Yongliang xiong Yingjie ma Han Liu Ye Jin Menghan Yang Guike Li Haoran Yin Minye Zhu Yang Qu Peng Wang Daofa Wang wei Li Liyuan Liu Nan Qi Ming Li Key Laboratory of Optoelectronic materials and Devices Institute of SemiconductorsChinese Academy of SciencesBeijing 100083China Institute of Semiconductors Chinese Academy of SciencesBeijing 100083China Center of materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijing 100190China School of Electronic Electrical and Communication EngineeringUniversity of Chinese Academy of SciencesBeijing 100049China

With the explosive development of artificial intelligence(AI),machine learning(ML),and high-performance comput-ing(HPC),the ever-growing data movement is asking for high density interconnects with higher bandwidth(BW),lower power and lower latency[1−3].The optical I/O leverages silicon photonic(SiPh)technology to enable high-density large-scale integrated photonics.

关键词： Gb/s transceiver monolithic

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Experimental study on shock interaction control of double wedge in high-enthalpy hypersonic flow subject to plasma synthetic jet

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Chinese Journal of Aeronautics 2024年第4期37卷 151-165页

作者： Xuzhen XIE qiang LIU Yan ZHOU Zhenbing LUO wei XIE Guanghui BAI Kai LUO Qiu WANG Jianjun WU College of Aerospace Science and Engineering National University of Defense TechnologyChangsha 410073China China Academy of Launch Vehicle Technology Beijing 100076China Institute of Mechanics Chinese Academy of SciencesBeijing 100190China

The hypersonic shock-shock interaction flow field at double-wedge geometries controlled by plasma synthetic jet actuator is experimentally studied in a ma = 8 high-enthalpy shock tunnel with the purpose of exploring a novel technique for reducing surface heat flux in a real flight environment. The results demonstrate that increasing the discharge energy is advantageous in eliminating the shock wave, shifting the shock wave interaction point, and shortening the control response time. The oblique shock wave can be completely removed when the actuator's discharge energy grows from 0.4 J to 11.5 J, and the displacement of the shock wave interaction point increases by 124.56%, while the controlled response time is shortened by 30 μs. Besides, the reduction in diameter of the jet exit is firstly proved to have a negative impact on energy deposition in a working environment with incoming flow, which reduces the discharge energy and hence decreases the control effect. The shock wave control response time lengthens when the jet exits away from the second wedge. Along with comparing the change in wall heat flux at the second wedge over time, the control effect of plasma synthetic jet actuator with and without inflation is also analyzed. When plasma synthetic jet works in inflatable mode, both the ability to eliminate shock waves and the shifting effect of the shock wave interaction point are increased significantly, and the wall heat flux is also reduced.

关键词： Hypersonic flow High-enthalpy flow Plasma synthetic jet Shock wave Flow control

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椭圆函数背景下Gerdjikov-Ivanov方程的多呼吸子

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物理学报 2024年第4期73卷 9-20页

作者：姚慧张海强熊玮玥上海理工大学理学院上海200093

作为非线性发展方程的一种特殊局域解,呼吸子具有包络振荡结构,且这种振荡呈现周期性变化.根据呼吸子在分布方向和演化方向的周期性,呼吸子主要有3种类型,即Kuznetsov-ma呼吸子(Kuznetsov-ma breather,KMB)、Akhmediev呼吸子(Akhmediev ... 详细信息

作为非线性发展方程的一种特殊局域解,呼吸子具有包络振荡结构,且这种振荡呈现周期性变化.根据呼吸子在分布方向和演化方向的周期性,呼吸子主要有3种类型,即Kuznetsov-ma呼吸子(Kuznetsov-ma breather,KMB)、Akhmediev呼吸子(Akhmediev breather,AB)和一般呼吸子(general breather,GB).近年来,周期背景下的呼吸子现象在许多非线性物理领域被观察到,比如在非线性光纤光学、流体力学等.研究表明背景周期波的调制不稳定性可以激发呼吸子的产生,且周期背景下的呼吸子具有非常丰富的物理性质和相互作用.因此,最近在周期背景下呼吸子的时空结构和相互作用引起了广泛关注.Gerdjikov-Ivanov方程可以被用来描述在量子场理论、弱非线性色散水波、非线性光学等领域中的非线性物理现象.构造该模型的各种类型的解是非常有意义的工作.据了解,在椭圆函数背景下的多呼吸子之前还未被研究过.本文首先利用修正的平方波(modified squared wave,MSW)函数法和行波变换法获得该方程的椭圆函数解.然后,在椭圆函数解初始条件下得到该方程Lax对的通解.基于椭圆函数的转换公式以及积分公式,将势函数周期解化简为只含有weierstrass椭圆函数.然后,利用达布变换构造出在椭圆函数背景下呼吸子的具体表达形式.在椭圆函数背景下,推导出3种不同类型的呼吸子,包括GB,KMB和AB.最后,给出3种呼吸子的时空结构三维图,并且展示它们之间相互作用的过程.

关键词： Gerdjikov-Ivanov方程椭圆函数达布变换呼吸子

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Early Triassic Legoupil Formation in Schmidt Peninsula,Antarctic Peninsula:Provenance and Depositional Settings

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Journal of Earth Science 2024年第2期35卷 317-331页

作者： Chao Zhang Ying-Chun Cui Chen-Guang Liu Fang-Hua Cui Lu-Yuan Wang wei-qiang Zhang School of Resources and Environmental Engineering Shandong University of TechnologyZibo255049China MNR Key Laboratory for Polar Science Polar Research Institute of ChinaShanghai201209China Key Laboratory of marine Sedimentology and Environmental Geology First Institute of OceanographyState Oceanic AdministrationQingdao266061China Laboratory for marine Geology Qingdao National Laboratory for Marine Science and TechnologyQingdao266061China Key Laboratory of Mineral Resources Evaluation in Northeast Asia Ministry of Land and ResourcesChangchun130061China

Geochemical compositions can be used to determine the tectonic setting of sedimentary basins,while where the link of source to sink is no longer preserved,detrital zircon age patterns can aid in resolving the original basin *** metasedimentary Legoupil Formation,located at Cape Legoupil and the Schmidt Peninsula,could give a hint for the tectonic evolution of Antarctic *** this contribution,we constrain the sedimentary provenance of the Legoupil Formation through geochemistry and detrital zircon U-Pb *** petrography and geochemical features indicate that the provenance of the Legoupil Formation could be felsic *** zircon grains record a steady supply of Permian and Ordovician material into the Legoupil *** youngest concordant zircon ages of 262 ma suggest that the depositional time of Legoupil Formation is no older than Late *** detrital zircon age spectrum of Legoupil Formation suggests that the Legoupil Formation sediments should be derived from regional sources endemic to western Gondwana prior to its *** with the previous studies,geochemistry and detrital zircons reflect an active continental margin tectonic setting and the detrital zircon spectra of Legoupil Formation are similar to the ones deposited in forearc tectonic setting.

关键词： Schmidt Peninsula Legoupil Formation Trinity Peninsula Group detrital zircons Antarctic Peninsula geochemistry

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Planning and construction of xiong’an New Area(city of over 5 million people):Contributions of China’s geologists and urban geology

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China Geology 2024年第3期7卷 382-408页

作者： Bo Han Zhen ma Liang-jun Lin Hong-wei Liu Yi-hang Gao Yu-bo Xia Hai-tao Li Xu Guo Feng ma Yu-shan Wang Ya-long Zhou Hong-qiang Li Tianjin Center China Geological Survey(North China Center of Geoscience Innovation)Ministry of Natural ResourcesTianjin 300170China xiong’an Urban Geological Research Center China Geological SurveyMinistry of Natural ResourcesTianjin 300170China Tianjin Key Laboratory of Coast Geological Processes and Environmental Safety Tianjin 300170China China Institute of Geo-Environment Monitoring Beijing 100081China Institute of Hydrogeology and Environmental Geology Chinese Academy of Geological SciencesShijiazhuang 050061China Center for Hydrogeology and Environmental Geology China Geological SurveyMinistry of Natural ResourcesBaoding 071051China Institute of Geophysical&Geochemical Exploration Chinese Academy of Geological SciencesLangfang 065000China Chinese Academy of Geological Sciences Beijing 10037China

China established xiong’an New Area in hebei Province in 2017,which is planned to accommodate about 5 million people,aiming to relieve Beijing City of the functions non-essential to its role as China’s capital and to expedite the coordinated development of the Beijing-Tianjin-hebei *** 2017 to 2021,the China Geological Survey(CGS)took the lead in multi-factor urban geological surveys involving space,resources,environments,and disasters according to the general requirements of“global vision,international standards,distinctive Chinese features,and future-oriented goals”in xiong’an New Area,identifying the engineering geologic conditions and geologic environmental challenges of this *** achievements also include a 3D engineering geological structure model for the whole area,along with“one city proper and five clusters”,insights into the ecology and the background endowment of natural resources like land,geothermal resources,groundwater,and wetland of the area before engineering construction,a comprehensive monitoring network of resources and environments in the area,and the“Transparent xiong’an”geological information platform that is open,shared,dynamically updated,and three-dimensionally ***’s geologists and urban geology have played a significant role in the urban planning and construction of xiong’an New Area,providing whole-process geological solutions for urban planning,construction,operation and *** future urban construction of xiong’an New Area will necessitate the theoretical and technical support of earth system science(ESS)from various aspects,and the purpose is to enhance the resilience of the new type of city and to provide support for the green,low-carbon,and sustainable development of this area.

关键词： Low Carbon New City Planning and construction Land Geothermal resources Groundwater Wetland Underground space Geologic disasters Site stability Natural resource Ecosystem Geological safety Transparent xiong’an Resilient city xiong’an New Area

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Fine mapping and characterization of stripe rust resistance gene YrAYH in near-isogenic lines derived from a cross involving wheat landrace Anyuehong

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The Crop Journal 2024年第3期12卷 826-835页

作者： Li Long Jue Li Linyu Huang Huiling Jin Fangnian Guan Haipeng Zhang Sasa Zhao Hao Li Zhien Pu wei Li Qiantao Jiang Yuming wei Jian ma Houyang Kang Shoufen Dai Pengfei Qi qiang Xu Mei Deng youliang Zheng Yunfeng Jiang matthew James Moscou Guoyue Chen State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China Sichuan Agricultural UniversityChengdu 611130SichuanChina Triticeae Research Institute Sichuan Agricultural UniversityChengdu 611130SichuanChina College of Resources Sichuan Agricultural UniversityChengdu 611130SichuanChina The Sainsbury Laboratory Norwich Research ParkNorwich NR47UHEnglandUK United States Department of Agriculture-Agricultural Research Service Cereal Disease LaboratorySt.PaulMN 55108USA

Stripe rust,caused by Puccinia striiformis ***(Pst),is a devastating disease in wheat *** and characterizing new resistance genes/QTL is crucial for wheat breeding *** this study,we fine-mapped and characterized a stripe rust resistance gene,YRAYH,on chromosome arm 5BL in the Chinese wheat landrace Anyuehong(AYH).Evaluations of stripe rust response to prevalent Chinese Pst races in near-isogenic lines derived from a cross of Anyuehong and Taichung 29 showed that YrAYH conferred a high level of resistance at all growth *** mapping using a large segregating population of 9748 plants,narrowed the YRAYH locus to a 3.7 Mb interval on chromosome arm 5BL that included 61 annotated *** analysis of two NIL pairs identified 64 upregulated differentially expressed genes(DEGs)in the resistant NILs(NILs-R).Annotations indicated that many of these genes have roles in plant disease resistance *** a combined approach of fine-mapping and transcriptome sequencing,we identified a serine/threonine-protein kinase SRPK as a candidate gene underlying YrAYH.A unique 25 bp insertion was identified in the NILs-R compared to the NILs-S and previously published wheat *** InDel marker was developed and co-segregated with *** trait evaluation of the NILs suggested that YrAYH not only reduces the impact of stripe rust but was also associated with a gene that increases plant height and spike length.

关键词： Candidate gene analysis Crop protection Puccinia striiformis Transcriptome analyses

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Stepped-up development of accelerator mass spectrometry method for the detection of ^(60)Fe with the HI-13 tandem accelerator

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Nuclear Science and Techniques 2024年第4期35卷 136-143页

作者： Yang Zhang Sheng-Quan Yan Ming he Qing-Zhang Zhao Wen-Hui Zhang Chao-Xin Kan Jian-Ming Zhou Kang-Ning Li Xiao-Fei Wang Jian-Cheng Liu Zhao-Hua Peng Zhuo Liang Ai-Ling Li Jian Zheng Qi-Wen Fan Yun-Ju Li you-Bao Wang Zhi-Hong Li Yang-Ping Shen Ding Nan wei Nan Yu-qiang Zhang Jia-Ying-Hao Li Jun-Wen Tian Jiang-Lin Hou Chang-Xin Guo Zhi-Cheng Zhang Ming-Hao Zhu Yu-Wen Chen Yu-Chen Jiang Tao Tian Jin-Long ma Yi-Hui Liu Jing-Yu Dong Run-Long Liu Mei-Yue-Nan ma Yong-Shou Chen wei-Ping Liu Bing Guo China Institute of Atomic Energy P.O.Box 275(10)Beijing 102413China College of Science Southern University of Science and TechnologyShenzhen 518055China School of Physics Xi’an Jiaotong UniversityXi’an 710049China

The Moon provides a unique environment for investigating nearby astrophysical events such as *** samples retain valuable information from these events,via detectable long-lived“fingerprint”radionuclides such as^(60)*** this work,we stepped up the development of an accelerator mass spectrometry(AMS)method for detecting^(60)Fe using the HI-13tandem accelerator at the China Institute of Atomic Energy(CIAE).Since interferences could not be sufficiently removed solely with the existing magnetic systems of the tandem accelerator and the following Q3D magnetic spectrograph,a Wien filter with a maximum voltage of±60 kV and a maximum magnetic field of 0.3 T was installed after the accelerator magnetic systems to lower the detection background for the low abundance nuclide^(60)Fe.A 1μm thick Si_(3)N_(4) foil was installed in front of the Q3D as an energy *** particle detection,a multi-anode gas ionization chamber was mounted at the center of the focal plane of the ***,an^(60)Fe sample with an abundance of 1.125×10^(-10)was used to test the new AMS *** results indicate that^(60)Fe can be clearly distinguished from the isobar^(60)*** sensitivity was assessed to be better than 4.3×10^(-14)based on blank sample measurements lasting 5.8 h,and the sensitivity could,in principle,be expected to be approximately 2.5×10^(-15)when the data were accumulated for 100 h,which is feasible for future lunar sample measurements because the main contaminants were sufficiently separated.

关键词： Accelerator mass spectrometry Wien filter Isobar separation Supernovae Chang'e-5 lunar samples

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