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Strong association of SLCIA1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

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Asian Journal of Andrology 2017年第4期19卷 486-492页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Hao Sun Ke-Qin Lin Xiao-Qin Huang Kai Huang jia-you chu Zhao-Qing Yang Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive Medical Research Centre People's Hospital of Shiyan Shiyan 442000 China

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism （SNP） association studies （GWAS） have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility （asthenozoospermia, oligozoospermia, and oligoasthenozoospermia） in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited, rs6476866 in SLCIA1 （P = 1.919E-4, OR = 0.5905, 95% Ch 0.447-0.78） and rs10129954 in DPF3 （P = 0.0023, OR = 2.199, 95% Ch 1.311-3.689） were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 （P= 0.0016, OR = 1.479, 95% CI： 1.075-2.033） and between oligoasthenozoospermia and rs2477686 in PEXIO （P= 0.0011, OR = 2.935, 95% Ch 1.492-5.775）. In addition, six SNPs （rs215702 in LSMS, rs6476866 in SLCIA1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEXIO, and rs10841496 in PED3A） were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

关键词： candidate SNPs Han Chinese idiopathic male infertility semen quality

HLA polymorphism of the Zhuang population reflects the common HLA characteristics among Zhuang-Dong language-speaking populations

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第6期12卷 428-435页

作者： Li SHI Xiao-qin HUANG Lei SHI Yu-fen TAO Yu-feng YAO Liang YU Ke-qin LIN Wen YI Hao SUN Katsushi TOKUNAGA jia-you chu Institute of Medical Biology Chinese Academy of Medical Sciences & Peking Union Medical College Kunming 650118 China Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan

A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.

关键词： Human leukocyte antigen (HLA) alleles Haplotypes Zhuang population

维普期刊数据库

Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Journal of Genetics and Genomics 2013年第10期40卷 543-548页

作者： Xiao-Chen Chen Hao Sun Chang-Jun Zhang Ying Zhang Ke-Qin Lin Liang Yu Lei Shi Yu-Fen Tao Xiao-Qin Huang jia-you chu Zhao-Qing Yang Department of Medical Genetics Institute of Medical BiologyChinese Academy of Medical Sciences and Peking Union Medical College935 Jiaoling RoadKunming 650118YunnanChina Reproductive Medicine Center Hubei University of MedicineShiyan 442000China

The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2）（Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI）（Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.

关键词： CAG Gene Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

维普期刊数据库

Pulse-doubling perovskite nanowire lasers enabled by phonon-assisted multistep energy funneling

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Light(Science & Applications) 2024年第8期13卷 1645-1654页

作者： chunhu Zhao jia Guo jiahua Tao Junhao chu Shaoqiang Chen Guichuan Xing Hunan Provincial Key Laboratory of Carbon Neutrality and Intelligent Energy School of Resource&EnvironmentHunan University of Technology and Business410205 ChangshaChina Engineering Research Center for Nanophotonics and Advanced Instrument Ministry of EducationSchool of Physics and Electronic ScienceEast China Normal University200241 ShanghaiChina Joint Key Laboratory of the Ministry of Education Institute of Applied Physics and Materials EngineeringUniversity of Macao999078 MacaoChina

Laser pulse multiplication from an optical gain medium has shown great potential in miniaturizing integrated optoelectronic *** multiple quantum wells(MQWs)structures have recently been recognized as an effective gain media capable of doubling laser pulses that do not rely on external optical *** the light amplifications enabled with pulse doubling are reported based on the perovskite MQWs thin films,the micronanolasers possessed a specific cavity for laser pulse multiplication and their corresponding intrinsic laser dynamics are still ***,a single-mode double-pulsed nanolaser from self-assembled perovskite MQWs nanowires is realized,exhibiting a pulse duration of 28 ps and pulse interval of 22 ps based on single femtosecond laser pulse *** is established that the continuous energy building up within a certain timescale is essential for the multiple population inversion in the gain medium,which arises from the slowing carrier localization process owning to the stronger exciton–phonon coupling in the smaller-n ***,the double-pulsed lasing is achieved from one fast energy funnel process from the adjacent small-n QWs to gain active region and another slow process from the spatially separated *** report may shed new light on the intrinsic energy relaxation mechanism and boost the further development of perovskite multiple-pulse lasers.

关键词： doubling energy phonon

Hepatocyte growth factor enhances the ability of dental pulp stem cells to ameliorate atherosclerosis in apolipoprotein E-knockout mice

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World Journal of Stem Cells 2024年第5期16卷 575-590页

作者： Han Duan Ning Tao Lin Lv Kai-Xin Yan Yong-Gang you Zhuang Mao Chang-Yao Wang Xue Li jia-Yan Jin chu-Tse Wu Hua Wang School of Life Sciences Hebei UniversityBaoding 071002Hebei ProvinceChina Beijing Institute of Radiation Medicine Beijing 100850China Department of Cardiology The Sixth Medical CentreChinese People’s Liberation Army General HospitalBeijing 100037China Department of Orthopaedics The Fourth Medical CentreChinese People’s Liberation Army General HospitalBeijing 100853China Third Cadet Regiment School of Basic Medical ScienceAir Force Medical UniversityXi’an 710032Shaanxi ProvinceChina

BACKGROUND Atherosclerosis(AS),a chronic inflammatory disease of blood vessels,is a major contributor to cardiovascular *** pulp stem cells(DPSCs)are capable of exerting immunomodulatory and anti-inflammatory effects by secreting cytokines and exosomes and are widely used to treat autoimmune and inflam-mation-related *** growth factor(HGF)is a pleiotropic cytokine that plays a key role in many inflammatory and autoimmune *** To modify DPSCs with HGF(DPSC-HGF)and evaluate the therapeutic effect of DPSC-HGF on AS using an apolipoprotein E-knockout(ApoE-/-)mouse model and an in vitro cellular *** ApoE-/-mice were fed with a high-fat diet(HFD)for 12 wk and injected with DPSC-HGF or Ad-Null modified DPSCs(DPSC-Null)through tail vein at weeks 4,7,and 11,respectively,and the therapeutic efficacy and mechanisms were analyzed by histopathology,flow cytometry,lipid and glucose measurements,real-time reverse transcription polymerase chain reaction(RT-PCR),and enzyme-linked immunosorbent assay at the different time points of the *** in vitro inflammatory cell model was established by using RAW264.7 cells and human aortic endothelial cells(HAOECs),and indirect co-cultured with supernatant of DPSC-Null(DPSC-Null-CM)or DPSC-HGF-CM,and the effect and mechanisms were analyzed by flow cytometry,RT-PCR and western *** factor-κB(NF-κB)activators and inhibitors were also used to validate the related signaling *** DPSC-Null and DPSC-HGF treatments decreased the area of atherosclerotic plaques and reduced the expression of inflammatory factors,and the percentage of macrophages in the aorta,and DPSC-HGF treatment had more pronounced *** treatment had no effect on serum lipoprotein *** FACS results showed that DPSCs treatment reduced the percentages of monocytes,neutrophils,and M1 macrophages in the peripheral blood and ***-Null-CM and DPSC-HGF-CM reduced adhesion molecule expression in tu

关键词： Atherosclerosis Apolipoprotein E-knockout mice Cell therapy Dental pulp stem cells Hepatocyte growth factor

Regulation of alternative splicing of Bcl-x by IL-6,GM-CSF and TPA

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Cell Research 2004年第6期14卷 473-479页

作者： Chang you LI, jia you chu, jian Kun YU, Xiao Qin HUANG, Xiao Juan LIU, Li SHI, Yan chun CHE, Jiu Yong XIE Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming 650118, China. Department of Physiology, Faculty of Medicine, University of Manitoba, 420 BMSB, 730 William Ave., Winnipeg, MB R3E 3J7, Canada. Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China

The splicing of many alternative exons in the precursor messenger RNA (pre-mRNA) is regulated by extracellular factors but the underlying molecular bases remain unclear. Here we report the differential regulation of Bcl-x pre-mRNA splicing by extracellular factors and their distinct requirements for pre-mRNA elements. In K562 leukemia cells, treatment with interleukin-6 (IL-6) or granulocyte-macrophage colony stimulating factor (GM-CSF) reduced the proportion of the Bcl-xL variant mRNA while treatment with 12-O-tetradecanoylphorbol 13-acetate (TPA) had no effect. In U251 glioma cells, however, TPA efficiently increased the Bcl-xL level. These regulations were also seen for a transfected splicing reporter mini-gene. Further analyses of deletion mutants indicate that nucleotides 1-176 of the downstream intron are required for the IL-6 effect, whereas additional nucleotides 177-284 are essential for the GM-CSF effect. As for the TPA effect, only nucleotides 1-76 are required in the downstream intron. Thus,

关键词： alternative splicing bcl-x gene cytokine TPA pre-mRNA element.

The Relationship Between the Atmospheric Environment and Road Traffic Fatalities — Shandong Province, China, 2012–2021

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China CDC weekly 2024年第13期6卷 267-271页

作者： Tao Wang Jie chu Zhiying Yao Li Yang Zilong Lu Ge Tian Xiaolei Guo Cunxian jia Department of Epidemiology School of Public HealthCheeloo College of MedicineShandong UniversityJinanShandong ProvinceChina Department for Chronic and Non-Communicable Disease Control and Prevention Shandong Center for Disease Control and PreventionJinanShandong ProvinceChina

Introduction:This study aims to analyze the potential impact of the meteorological environment and air pollutants on road traffic ***:Road traffic fatality data in Shandong Province from 2012 to 2021 were obtained from the Population Death Information Registration Management *** and air pollutant data for the same period were collected from the *** Oceanic and Atmospheric Administration and the Ecological Environment Monitoring Center of Shandong Province,***’s correlation and ridge regression were used to analyze the impact of the meteorological environment and air pollutants on road traffic ***:From 2012 to 2021,there were 163,863 road traffic fatality *** results of the ridge regression analysis showed that the daily average temperature was negatively correlated with total fatalities and passengers and positively correlated with pedestrians,nonmotorized drivers,and motorized *** daily minimum temperature was negatively correlated with total fatalities and positively correlated with motorized *** daily maximum temperature was positively correlated with both pedestrian and nonmotorized *** daily accumulated precipitation was negatively correlated with *** duration was positively correlated with both nonmotorized and motorized *** particulate matter(PM_(10))and nitrogen dioxide(NO_(2))were positively correlated with total fatalities,pedestrians,and nonmotorized *** dioxide(SO_(2))was positively correlated with total fatalities but negatively correlated with nonmotorized drivers,passengers,and motorized ***:Atmospheric factors associated with the occurrence of road traffic fatalities include air temperature,daily accumulated precipitation,sunshine duration,and air pollutants such as PM_(10),NO_(2),and SO_(2).

关键词： Ecological dioxide sunshine

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肿瘤基因组中体细胞性改变的研究进展

世界华人消化杂志 2007年第28期15卷 3029-3034页

作者：杨壹羚褚嘉祐中国医学科学院北京协和医学院医学生物学研究所遗传室云南省昆明市650118

大部分人类肿瘤是由基因组中的体细胞性改变所导致的癌基因激活或抑癌基因失活所引发的.本文总结了近年来肿瘤基因组中体细胞性改变的研究状况,我们主要关注人类基因组计划为肿瘤相关基因的鉴定所带来的机遇并讨论以全基因组分析为基础... 详细信息

大部分人类肿瘤是由基因组中的体细胞性改变所导致的癌基因激活或抑癌基因失活所引发的.本文总结了近年来肿瘤基因组中体细胞性改变的研究状况,我们主要关注人类基因组计划为肿瘤相关基因的鉴定所带来的机遇并讨论以全基因组分析为基础的研究进展.

关键词：肿瘤基因组体细胞性改变人类基因组计划突变

Complete-basis-reprogrammable coding metasurface for generating dynamicallycontrolled holograms under arbitrary polarization states

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Opto-Electronic Advances 2024年第9期7卷 65-80页

作者： Zuntian chu Xinqi Cai Ruichao Zhu Tonghao Liu Huiting Sun Tiefu Li Yuxiang jia Yajuan Han Shaobo Qu jiafu Wang Shaanxi Key Laboratory of Artificially-Structured Functional Materials and Devices Air Force Engineering UniversityXi’an 710051China Suzhou Laboratory Suzhou 215000China Zhijian Laboratory Rocket Force University of EngineeringXi’an 710025China.

Reprogrammable metasurfaces,which establish a fascinating bridge between physical and information domains,can dynamically control electromagnetic(EM)waves in real time and thus have attracted great attentions from researchers around the *** control EM waves with an arbitrary polarization state,it is desirable that a complete set of basis states be controlled independently since incident EM waves with an arbitrary polarization state can be decomposed as a linear sum of these basis *** this work,we present the concept of complete-basis-reprogrammable coding metasurface(CBR-CM)in reflective manners,which can achieve independently dynamic controls over the reflection phases while maintaining the same amplitude for left-handed circularly polarized(LCP)waves and right-handed circularly polarized(RCP)*** LCP and RCP waves together constitute a complete basis set of planar EM waves,dynamicallycontrolled holograms can be generated under arbitrarily polarized wave *** dynamically reconfigurable metaparticle is implemented to demonstrate the CBR-CM’s robust capability of controlling the longitudinal and transverse positions of holograms under LCP and RCP waves ***’s expected that the proposed CBR-CM opens up ways of realizing more sophisticated and advanced devices with multiple independent information channels,which may provide technical assistance for digital EM environment reproduction.

关键词： basis vector control reprogrammable metasurface dynamically-controlled holograms arbitrary polarization state broadband