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Biallelic mutations in spermatogenesis and centriole-associated 1 like(SPATC1L)cause acephalic spermatozoa syndrome and male infertility

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Asian Journal of Andrology 2022年第1期24卷 67-72页

作者： You-Zhu li Na li Wen-Sheng liu Yan-wei Sha Rong-Feng Wu Ya-ling Tang Xing-Shen Zhu xiao-li wei xiao-Ya Zhang Yi-Feng Wang Zhong-Xian Lu Fu-Xing Zhang Reproductive Medicine Center The First Affiliated Hospital of Xiamen UniversityXiamen 361003China Intensive Care Unit Fujian Medical University Xiamen Humanity HospitalXiamen 361009China Obstetrics and Gynecology Center Department of Obstetrics and GynecologyZhujiang HospitalSouthern Medical UniversityGuangzhou 510280China School of Pharmaceutical Sciences State Key Laboratory of Cellular Stress BiologyXiamen UniversityXiamen 361102China Department of Andrology United Diagnostic and Research Center for Clinical GeneticsWomen and Children’s Hospital and School of MedicineXiamen UniversityXiamen 361005China Department of Obstetrics and Gynecology First Affiliated Hospital of Xiamen UniversityXiamen 361003China Department of General Surgery First Affiliated Hospital of Xiamen UniversityXiamen 361003China

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients,and genetic defects have been recognized as the main cause of acephalic spermatozoa *** and centrioleassociated 1 like(SPATC1L)is indispensable for maintaining the integrity of sperm head-to-tail connections in mice,but its roles in human sperm and early embryonic development remain largely ***,we conducted whole-exome sequencing(WES)of 22 infertile men with acephalic spermatozoa *** in silico analysis of the candidate variants was conducted,and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven *** identified biallelic mutations in SPATC1L(c.910C>T:***304Cys and c.994G>T:***332X)from a patient whose sperm displayed complete *** SPATC1L variants are rare and ***1L is mainly expressed at the head–tail junction of elongating *** containing pathogenic variants decreased the level of SPATC1L in ***,none of the patient’s four attempts at intracytoplasmic sperm injection(ICSI)resulted in a transplantable embryo,which suggests that SPATC1L defects might affect early embryonic *** conclusion,this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa ***,WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.

关键词： acephalic spermatozoa syndrome biallelic mutations spermatogenesis and centriole-associated 1 like whole-exome sequencing

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Novel CDH1 germline mutations identified in Chinese gastric cancer patients

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World Journal of Gastroenterology 2013年第6期19卷 909-916页

作者： Qin-Hua Chen wei Deng xiao-wei li Xiu-Fang liu Jing-Mei Wang li-Feng Wang Nong xiao Qiong He Ya-Ping Wang Yi-Mei Fan Department of Medical Genetics Medical SchoolNanjing University Jiangsu Key Laboratory of Molecular Medicine Department of Pathology Drum Tower Hospital Affiliated to Medical SchoolNanjing University Department of Oncology Drum Tower Hospital Affiliated to Medical SchoolNanjing University Lujiang Hospital

AIM:To give a comprehensive report of E-cadheringene (CDH1) variations in a population at a high risk for gastric cancer (GC).METHODS:The samples consisted of 178 men and 58 women with a mean age of 62.3 ± 9.4 years and an age range of 30-84 years.A total of 240 cancerfree controls were recruited (mean age of 61.8 ± 10.1 years,age range of 26-82 years).Samples were screened for CDH1 germline mutations by high-resolution melting analysis or directly *** reporter assay,RNA splicing assay and bioinformatic analysis were used to evaluate the effect of ***:Four novel CDH1 sequence alterations were identified in GC patients including a G>T transition 49 bp before the start codon;a three-nucleotide deletion,c.44_46del TGC;one missense mutation,c.604G>A (V202I);and one variation in the intron,c.1320+7A>*** addition,polymorphism frequencies were observed for CDH1-164delT,-161C>A,-73A>C,c.48+6C>T,c.48+62_48+63delinsCGTGCCCCAGCCC,c.894C>T (A298A),c.1224G>A (A408A),c.1888C>G (L630V),c.2076T>C (A692A),and c.2253C>T (N751N) which is similar to the data reported in http://***/projects/SNP/.RNA splicing analysis suggested that the c.1320+7A>G and c.1224G>A variations did not affect exon splicing *** reporter assay demonstrated that the c.-49T variation might be helpful for E-cadherin transcription,though the increase in transcription activity is limited (only 33%).SIFT score and PolyPhen analysis both demonstrated that the L630V missense mutation probably damages protein function,while the V202I variant does ***:This study reveals novel mutations in sporadic GC patients which had been poorly investigated for susceptibility genes.

关键词： Gastric cancer Germline mutation CDH1 Luciferase reporter assay RNA splicing analysis

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Biphasic Cholinergic Modulation of Reverberatory Activity in Neuronal

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Neuroscience Bulletin 2023年第5期39卷 731-744页

作者： xiao-wei li Yi Ren Dong-Qing Shi Lei Qi Fang Xu Yanyang xiao Pak-Ming Lau Guo-Qiang Bi CAS Key Laboratory of Brain Function and Disease School of Life SciencesDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefeiAnhui 230027China CAS Key Laboratory of Brain Connectome and Manipulation Interdisciplinary Center for Brain Informationthe Brain Cognition and Brain Disease Institute(BCBDI)Shenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research InstitutionsShenzhen 518055China

Acetylcholine(ACh)is an important neuromod-ulator in various cognitive ***,it is unclear how ACh influences neural circuit dynamics by altering cellular ***,we investigated how ACh influ-ences reverberatory activity in cultured neuronal *** found that ACh suppressed the occurrence of evoked reverberation at low to moderate doses,but to a much lesser extent at high ***,high doses of ACh caused a longer duration of evoked reverberation,and a higher occur-rence of spontaneous *** whole-cell recording from single neurons,we found that ACh inhibited excita-tory postsynaptic currents(EPSCs)while elevating neu-ronal firing in a dose-dependent ***,all ACh-induced cellular and network changes were blocked by muscarinic,but not nicotinic receptor *** computational modeling,we found that simulated changes in EPSCs and the excitability of single cells mimicking the effects of ACh indeed modulated the evoked network reverberation similar to experimental ***,ACh modulates network dynamics in a biphasic fashion,probably by inhibiting excitatory synaptic transmission and facilitating neuronal excitability through muscarinic signaling pathways.

关键词： Acetylcholine Neuronal network Reverberation Synaptic current Excitability

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Cloning and Expression Analysis of Rice Sucrose Transporter Genes OsSUT2M and OsSUT5Z

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Journal of Integrative Plant Biology 2008年第1期50卷 62-75页

作者： Ai-Jun Sun Hong-lin Xu Wan-Kui Gong Hong-li Zhai Kun Meng Yong-Qin Wang xiao-li wei Gui-Fang xiao Zhen Zhu State Key Laboratory of Plant Genomics Institute of Genetics and Developmental Biology the Chinese Academy of Sciences Beijing 100101 China Graduate School of the Chinese Academy of Sciences Beijing 100049 China

Two sucrose transporter （SUT） cDNAs, OsSUT2M and OsSUT5Z, were isolated from rice （Oryza sativa L.） by reverse transcription polymerase chain reaction （RT-PCR）. Sequencing results indicate they are 1 531 bp and 1 635 bp in length including complete open reading frame 1 506bp and 1 608 bp, which encode 502 amino acids and 536 amino acids, respectively. The TopPred program suggested that both sucrose transporter proteins, OsSUT2M and OsSUT5Z, consist of potentially 12 transmembrane domains. Semi-quantitative RT-PCR was carried out to investigate the gene expression patterns of OsSUT2M and OsSUT5Z. In vegetative organs, transcripts of OsSUT2M were higher in source leaf blades than in other organs at the same development stage, whereas transcripts of OsSUT5Z were less traceable in all organs investigated. In reproductive organs, both transcripts of these two genes were high in panicles from the booting stage to 7 days after flowering （DAF） and then sharply declined. The potential physiology functions of these two sucrose transporters are discussed.

关键词： cDNA cloning expression pattern OsSUT2M OsSUT5Z rice sucrose transporter.

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Metallurgy of aluminum-inspired formation of aluminosilicate-coated nanosilicon for lithium-ion battery anode

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Rare Metals 2022年第6期41卷 1880-1888页

作者： Yu Zhou Peng-Hu Niu Zhong-Hua li Pan-Pan Zhang Ming-Ru Su Ai-Chun Dou xiao-wei li Yun-Jian liu School of Material Science and Engineering.Jiangsu University Zhenjiang 212013China

Modification of Si anode with various coating matrixes is a promising strategy to resolve the unsta-ble solid electrolyte interphase ***,the com-plex preparation process and inherently weak interaction between Si and other matrixes impede its practical *** by the metallurgical process of aluminum,an aluminosilicate matrix was prepared as coating layer on the surface of Si nanoparticles after heat *** nanoparticles with a uniform native oxide layer were used as seed crystals for the adsorption of aluminum *** strong symbiosis and bond between alumina and silica,such as mullite(3Al_(2)O_(3)·2SiO_(2))or kaolin(Al2O_(3)·SiO_(2)·2H_(2)O),provide homogeneous and durable contact coating *** as-produced Si/SiO_(2)·Al_(2)O_(3)composite delivers a charge capacity of 1440 mAh·g^(-1)at 100 mA·g^(-1)and remains 879 mAh·g^(-1)at 3 A·g^(-1).After 200 cycles,the capacity retention remains high at 76%.The enhanced properties were ascribed to SiO_(2)·Al_(2)O_(3)syner-gistic composite coating layer,which could hinder the interfacial side chemical reaction and buffer volume change of Si.

关键词： lithium-ion batteries Silicon anode Alumina coating Interface stability

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Concentrated Fluoride-medium Route to Synthesis of One-dimensional Fluoroaluminophosphate Chain (C_4H_(15)N_3)[AlPO_4F_2]

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Chemical Research in Chinese Universities 2010年第5期26卷 699-701页

作者： liU Yang HAN Yi-de li Yi SONG xiao-wei li Ji-yang YU Ji-hong XU Ru-ren State Key Laboratory of Inorganic Synthesis and Preparative Chemistry College of Chemistry Jilin University Changchun 130012 P. R. China

A new one-dimensional（ID） fluoroaluminophosphate chain（C4H15N3）[AlPO4F2]（denoted AIPO-CJ28） was synthesized in the concentrated fluoride synthetic medium with a gel composition of 1.0Al（OPr^1）a：1.0H3PO4： 5.4DETA：1.3HF：2.0H2O（DETA=diethylenetriamine）. The reagents were mixed directly without introducing additional water solvent. The 1D chain is constructed by alternating AlO2F2 arid doubly bridging PO4 tetrahedra to form the simplest serrate chain. AIPO-CJ28 can be transformed to another 1D aluminophosphate chain A1PO-CSC upon further crystallization at 230 ℃.

关键词： Fluoroaluminophosphate Concentrated fluoride-medium Phase transformation Chain structure

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Clonality analysis of neuroendocrine cells in gastric adenocarcinoma

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World Journal of Gastroenterology 2013年第32期19卷 5340-5346页

作者： ling-ling Wang Gen-You Yao Zhong-Sheng Zhao xiao-li wei Ru-Jun Xu Institute of Pathology and Forensic Medicine Zhejiang University Pathology Department Hangzhou First People’s Hospital Zhejiang Provincial People’s Hospital Hangzhou First People’s Hospital

AIM:To achieve a better understanding of the origination of neuroendocrine(NE)cells in gastric ***:In this study,120 cases of gastric adenocarcinoma were ***,frozen section-immunohistochemistrical samples were selected from a large quantity of neuroendocrine ***,laser capture microdissection was used to get target cells from gastric adenocarcinoma and whole genome amplification was applied to get a large quantity of DNA for further ***,genome-wide microsatellite abnormalities[microsatellite instability(MSI),loss of heterozygosity (LOH)]and p53 mutation were detected by polymerase chain reaction(PCR)-single-strand conformation polymer-phism-silver staining and PCR-sequencing in order to identify the clonality of NE ***:The total incidence rate of MSI was 27.4%,while LOH was 17.9%.Ten cases had a highest concordance for the two types of *** other samples had similar microsatellite changes,except for cases 7 *** p53 mutations exhibited in sample 4,14,21 and 27,and there were different mutations between two kinds of cells in case *** case 17,mutation took place only in adenocarcinoma cells.p53 mutation was closely related with degree of differentiation,tumor-node-metastasis stage,vessel invasion and lymph node *** brief,NE and adenocarcinoma cells showed the same MSI,LOH or p53 mutation in most cases(27/30).In the other three cases,different MSI,LOH or p53 mutation ***:NE and the gastric adenocarcinoma cells may mainly derive from the same stem cells,but the remaining cases showing different origin needs further investigation.

关键词： Neuroendocrine differentiation Clonal analysis Gastric adenocarcinoma Neuroendocrine cells

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Cell-wall Invertases from Rice are Differentially Expressed in Caryopsis during the Grain Filling Stage

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Journal of Integrative Plant Biology 2008年第4期50卷 466-474页

作者： Yong-Qin Wang xiao-li wei Hong-lin Xu Cheng-lin Chai Kun Meng Hong-li Zhai Ai-Jun Sun Yong-Gang Peng Bin Wu Gui-Fang xiao Zhen Zhu State Key Laboratory of Plant Genomics Institute of Genetics and Developmental Biology the Chinese Academy of Sciences Beijing 100101 China Graduate School of the Chinese Academy of Sciences Beijing 100049 China

Cell-wall invertase plays an important role in sucrose partitioning between source and sink organs in higher plants. To investigate the role of cell-wall invertases for seed development in rice （Oryza sativa L.）, cDNAs of three putative cell- wall invertase genes OsCIN1, OsCIN2 and OsCIN3 were isolated. Semi-quantitative reverse transcription-polymerase chain reaction analysis revealed different expression patterns of the three genes in various rice tissues/organs. In developing caryopses, they exhibited similar temporal expression patterns, expressed highly at the early and middle grain filling stages and gradually declined to low levels afterward. However, the spatial expression patterns of them were very different, with OsCIN1 primarily expressed in the caryopsis coat, OsCIN2 in embryo and endosperm, and OsCIN3 in embryo. Further RNA in situ hybridization analysis revealed that a strong signal of OsCIN2 mRNA was detected in the vascular parenchyma surrounding the xylem of the chalazal vein and the aleurone layer, whereas OsCIN3 transcript was strongly detected in the vascular parenchyma surrounding the phloem of the chalazal vein, cross-cells, the aleurone layer and the nuceUar tissue. These data indicate that the three cell-wall invertase genes play complementary/synergetic roles in assimilate unloading during the grain filling stage. In addition, the cell type-specific expression patterns of OsCIN3 in source leaf blades and anthers were also investigated, and its corresponding physiological roles were discussed.

关键词： cell-wall invertase gene expression Oryza sativa RNA in situ hybridization seed development.

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Process Analysis of Double Circuit Transmission line Trip-out on the Same Tower Due to lightning

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高压电器 2011年第9期47卷 31-36,43页

作者： DUAN Da-peng REN Zhi-gang WANG Peng YE Kuan CHANG xiao-qi li wei Beijing Electric Power Research Institute Beijing 100075 China

In recent years,several failures of double circuit transmission line on the same tower due to lightning were happened in Beijing power *** it can be reclosed successful,the lightning strike caused a grave threat to the power grid *** cause of the accident and the accident process were studied for the sake of further understanding of the impact of lightning on power *** an example,110 kV double circuit transmission line(Xilong-line) was *** first,the system topology was *** the analysis on relay protection actions and the fault recorder data,over voltage on the insulator strings was *** on the analysis and the calculation,accident cause and the process were presented ***,it comes to the conclusion that the lightning failure was caused by *** wave of the lightning over voltage would spread to the not grounded neutral point of the transformers,and make the neutral protective gap breakdown,then cause freewheeling with the frequency of 50 *** results of the relay protection,the double circuit transmission line all tripped ***,the causes of the accident were proposed that included terrain features,large corner towers,strong thunderstorm weather and poor grounded contact of the tower.

关键词： double circuit transmission lines on the same tower lightning trip-out at the same time fault recorder over-voltage calculation lightning protection

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LRP6 Bidirectionally Regulates Insulin Sensitivity through Insulin Receptor and S6K Signaling in Rats with CG-IUGR

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Current Medical Science 2023年第2期43卷 274-283页

作者： Xue-mei XIE Qiu-li CAO Yu-jie SUN Jie ZHANG Kai-li liU Ying-fen QIN Wen-jun LONG Zuo-jie LUO xiao-wei li Xing-huan liANG Guan-dou YUAN xiao-ping LUO Xiu-ping XUAN Department of Endocrinology the First Affiliated Hospital of Guangxi Medical UniversityNanning530021China Department of Pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Division of Hepatobiliary Surgery the First Affiliated Hospital of Guangxi Medical UniversityNanning530021China

Objective Intrauterine growth restriction followed by postnatal catch-up growth(CG-IUGR)increases the risk of insulin resistance-related ***-density lipoprotein receptor-related protein 6(LRP6)plays a substantial role in glucose ***,whether LRP6 is involved in the insulin resistance of CG-IUGR is *** study aimed to explore the role of LRP6 in insulin signaling in response to *** The CG-IUGR rat model was established via a maternal gestational nutritional restriction followed by postnatal litter size *** mRNA and protein expression of the components in the insulin pathway,LRP6/β-catenin and mammalian target of rapamycin(mTOR)/S6 kinase(S6K)signaling,was *** tissues were immunostained for the expression of LRP6 andβ-***6 was overexpressed or silenced in primary hepatocytes to explore its role in insulin *** Compared with the control rats,CG-IUGR rats showed higher homeostasis model assessment for insulin resistance(HOMA-IR)index and fasting insulin level,decreased insulin signaling,reduced mTOR/S6K/insulin receptor substrate-1(IRS-1)serine307 activity,and decreased LRP6/β-catenin in the liver *** knockdown of LRP6 in hepatocytes from appropriate-for-gestational-age(AGA)rats led to reductions in insulin receptor(IR)signaling and mTOR/S6K/IRS-1 serine307 *** contrast,LRP6 overexpression in hepatocytes of CG-IUGR rats resulted in elevated IR signaling and mTOR/S6K/IRS-1 serine307 *** LRP6 regulated the insulin signaling in the CG-IUGR rats via two distinct pathways,IR and mTOR-S6K ***6 may be a potential therapeutic target for insulin resistance in CG-IUGR individuals.

关键词： intrauterine growth restriction followed by postnatal catch-up growth insulin signaling lipoprotein receptor-related protein 6 Wnt signaling mammalian target of rapamycin/S6 kinase signaling

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