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简介：AbstractHepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease. To inform genetic counseling in a family with two affected GSD brothers, we performed a genetic analysis. The GSD in the older brother was confirmed by histological examination of a liver biopsy, which showed glycogen accumulation in liver cells. A liver biopsy was not available from the younger brother. The two patients and their parents were analyzed by whole exome sequencing. A pathogenic mutation in a gene encoding a regulatory subunit of PhK, PHKA2 located on chromosome Xp22, was identified as c.G3373A (p.E1125K) and confirmed by Sanger sequencing. The proband’s maternal grandparents and the brothers and sisters of the proband’s maternal grandfather were physically examined and genetically tested by Sanger sequencing. Pedigree analysis showed that the mother was a carrier and that the two patients inherited the mutation from their undiagnosed maternal grandfather. Moreover, among the maternal grandfather and four granduncles, three of them possessed the same mutation and four suffered from fatty liver. This is the first report of this mutation causing X-linked liver glycogenosis in a Chinese family and shows that GSD IXa is a mild form of glycogenosis in terms of clinical symptoms, indicating that GSD may be undiagnosed or underestimated. Nevertheless, to provide appropriate intervention and genetic counseling, early identification of the genetic cause is imperative. This study was approved by the Ethics Committee of First Affiliated Hospital, Hunan University of Chinese Medicine (approval No. HN-LL-ZFKY-2018-001-01) on January 12, 2018.

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简介：Objective:Basedontheclinicalmanifestationsofahearinglosspatient,thePOU3F4genewastestedfordiagnosisofetiology.Methods:Acomprehensivephysicalexaminationwasperformedontheprobandtoexcludeabnormalitiesofotherorgans,anddetailedaudiologicaltestingandtemporalboneCTscanwerealsoperformed.GenomicDNAwasextractedusingtheproband’speripheralbloodleukocytes.Polymerasechainreactions(PCR)wereperformedinthecodingsequenceofthePOU3F4gene.DirectDNAsequencingwassubsequentlyappliedtoscreentheentirecodingregionofthePOU3F4gene.Results:Theprobandhadseveresensorineuralhearingloss.TemporalCTshowedbilateralcochlearincompletepartition,vestibuledysplasia,internalauditorycanalfundusexpansion,andcochlearinterlinkwiththeinternalauditorycanalfundus.Anovelmutation(c.530C>A(p.S177X))inthePOU3F4genewasfoundinthispatient,creatingannewstopcodonandwaspredictedtoresultinatruncatedproteinlackingnormalPOU3F4transcriptionfactorfunction.Conclusion:ThroughanalysisofthePOU3F4geneandclinicalmanifestationsinthepatient,weconcludethatanovelmutationmayhaveresultedinaprematurestopcodon,contributingtothemutationofPOU3F4gene.

简介：AbstractObjective:The asparagine-linked glycosylation 13 homolog (Alg13) has been identified as causative for congenital disorders of glycosylation type I with epilepsy. The aim of this study was to determine whether mice carrying a mutated version of Alg13 could be used as a model for epileptic encephalopathies or congenital disorders of glycosylation type I.Methods:A model of epileptic encephalopathy was established in C57BL/6 mice by introducing mutations in Alg13 via the clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated protein 9 (CRISPR/Cas9) system. All surgical procedures were approved by the Institutional Animal Care and Use Committee of Shanghai Jiao Tong University (A2016084) on October 8, 2016.Results:Mice with 3 different mutations, Alg13-54nt, Alg13-5nt and Alg13-4nt, all of which are located in Alg13 transcript variant 1, were created. The Alg13-5nt mice exhibited spontaneous seizures similar to patients with Alg13 mutations, suggesting that they could be used as a model for epilepsy. Western blot analysis demonstrated that Alg13-5nt mice had lower levels of Alg13 expression than wild-type mice. Video observations showed that two of the 17 Alg13-5nt mice had stage 5 seizures involving jumping and falling, while 12 had stage 3 seizures with head nodding.Conclusion:The Alg13 mouse model provides an outstanding tool for studying epileptic encephalopathies and investigating different aspects of defects in glycosylation or other post-translational modification that cannot be assessed in patients or cell culture systems.

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简介：有核心壳的合成nanoparticles组织的Cross-linked-cyclodextrinpolymer/Fe3O4在carboxymethyl-cyclodextrin的表面上经由生气连接反应被准备(厘米--CD)在-cyclodextrin的修改Fe3O4nanoparticles由把epichlorohydrin用作crosslinking的碱的答案代理人。准备合成nanoparticles的形态学，结构和磁性被传播电子显微镜学(TEM)调查，Fourier变换红外线(FTIR)spectrometry，X光检查衍射(XRD)测量，thermogravimetric分析(TGA)和颤动的样品magnetometry(VSM)分别地。

简介：Thesynthesisandcharacterizationoffournewsilicon-linkedlanthanocenecomplexeswithpendantphenylgroupsoncyclopentadienewerereported.Basedonthedataofelementalanalyses,MSandIR,thecomplexeswerepresumedtobeunsolvatedanddimericcomplexes[Me2Si(C5H3CMe2C6H5)2LnC1]2[Ln=Er(1),Gd(2),Sm(3),Dy(4)].InconjunctionwithAlEt3orsodiumhydrideastheco-catalyst,thesecomplexescouldefficientlycatalyzethepolymerizationofmethylmethacrylate(MMA).Whenthenanometricsodiumhydridewasusedasaco-catalyst,thecomplexeswerehighlyeffectiveforthepolymerizationofMMA.Atlowtemperatureandinshorttime,in[MeESi(C5H3CMe2C6H5)2LnC1]2/NaH(nanometric)system,thepolymerwasobtainedinmorethan80%yieldandthemolecularweightwasgreaterthan105.Theactivityreachedthatoforganolanthanidehydrideasasingle-componentcatalyst.In]MeESi(C5H3CMe2C6H5)2ErC1]2/Nail(nanometric)system,theeffectsofthemolarratioofMMA/catalystandcatalyst/co-catalyst,andthetemperatureonpolymerizationwerestudied.

简介：TounderstandtheDNA-methylationmediatedgenesilencingmechanisms,weanalyzedincellcultureofthepromoterfunctionoftheMAGE-A1gene,whichisfrequentlydemethylatedandover-expressedinhumanhepatocellularcarcinoma.WehaveestablishedthecorrelationoftheDNAmethylationofthepromoterCpGislandwithexpressionstatusofthisgeneinapaneloftheestablishedlivercancercelllines.ThecrucialCpGdinucleotide(s)withintheminimalpromotersubjectedtothecontrolmediatedbyDNAmethylationwithprofoundbiologicalfunctionswasalsodelineated.Furthermore,anovelsequence-specificDNA-proteininteractionatthe-30CpGdinucleotideupstreamofthegenewasfoundhavingavitalparttoplayintheDNAmethylationmediatedtranscriptionsilencingoftheMAGE-A1gene.OurresultswouldnotonlyprovidenewinsightsintotheDNAmethylationmediatedmechanismsovertranscriptionoftheMAGE-A1gene,butalsopavethewayforfurtherdefiningthecross-talkamongDNAmethylation,histonemodificationandchromatinremodelingindetail.

简介：Luminescentpolystyrenemicrosphereswereeasilyfabricatedfrompoly(styrene-co-methacrylicacid)andaqueousRE(III)chloridesolution(RE=Eu,Tb)inthepresenceof2,20-bipyridineassecondligand.Thenegativechargesofcarboxylgroupsonthesurfaceofmicrospherescoordinatedwithrareearthionsatfirst,suchascomplexescovalentlylinkedto2,20-bipyridine,resultinginstrongphotoluminescence.Variousmethods,includingtransmissionelectronmicroscope(TEM),scanningelectronmicroscope(SEM),energydispersivespectroscopy(EDS),Fouriertransforminfraredspectroscopy(FT-IR),andfluorescencespectrophotometer,wereusedtocharacterizetheresultantpolystyrenecompositemicrospheres.Thisworkhighlightstheideathatitisfaciletosynthesisluminescentmicrospheresbysurface-modifiedmethoddirectly.

简介：[摘要]本文介绍了双语教学基本概念及其在我院的开展情况，并以具体的课程为案例分析了国外高等教育教学体系中的优势及如何通过双语教学这一手段加强教学效果，实现与国外院校交流合作的同时进行教学改革。[关键词]双语教学优势高等教育教学改革一、简介我国一直强调把教育摆在优先发展的战略地位，提出了“科教兴国”的战略方针，将“面向现代化，面向世界，面向未来”作为中国教育的发展方向。中国教育的发展要与世界接轨，语言是主要的屏障，尤其在现行的教育体制下，要实现国际间院校的交流与合作，在高校推行“双语教学”已成为一种趋势，而“双语教学”这一概念及其在教学中的应用则应理性地对待和慎重地加以应用，否则势必本末倒置，利弊失衡。长江大学国际学院是长江大学承办中外合作办学任务的直属院系，作为与国外其他院校沟通与交流的桥梁，学院以“互动式教学、分层次授课、小班级辅导、导师制培养”的教学模式和“准军事管理、全天候带班、全方位服务、全过程育人”的管理模式，力求达到“培养国际化人才”的教学目标。目前学院主要与英国、韩国、爱尔兰等国家的同类院校建立了长期的合作关系，教学方面以“中英”、“中韩”双语教学为手段，引进国外的课程设置和教学大纲，结合国内学生的实际情况加以调整，选择合适的教材开展教学工作，以实现国际间院校的合作交流……

简介：AbstractBackground:Myocardial infarction occurs due to insufficient (ischemia) blood supply to heart for long time; plasmacytoma variant translocation 1 (PVT1) is a long non-coding RNAs (lncRNAs) involved in the pathogenesis of various diseases, including heart disease; However, few studies have explored its role. The present study evaluated the effects of lncRNA PVT1 on hypoxic rat H9c2 cells.Methods:Hypoxic injury was examined by measuring cell viability and apoptosis by using cell counting kit-8 activity and flow cytometry assays. Gene expressions after hypoxia were estimated by quantitative real time polymerase chain reaction and the signaling pathway were explored by Western blot analysis. RNA immunoprecipitation and luciferase reporter assays were applied to examine the interactions among genes. Data were analyzed using t-test with one-way or two-way analysis of variance.Results:The lncRNA PVT1 is up-regulated in hypoxia-stressed H9c2 cells and knockdown of PVT1 mitigates hypoxia-induced injury in H9c2 cells. PVT1 acts as a sponge for miR-135a-5p and knockdown of PVT1 attenuated the increased hypoxia-induced injury by up-regulating miR-135a-5p. Forkhead box O1 (FOXO1) was identified as a target of miR-135a-5p, and the expression was negatively regulated by miR-135a-5p. The exploration of the underlying mechanism demonstrated that knockdown of FOXO1 reversed PVT1/miR-135a-5p mediated hypoxia-induced injury in H9c2 cells.Conclusions:PVT1 plays a crucial role in hypoxia-injured H9c2 cells through sponging miR-135a-5p and then positively regulating FOXO1.