在岗研究生导师情况介绍
所系名称健康科学研究所
性别女
专业名称生物化学与分子生物学
技术职务研究员
行政职务无
Mail地址ldhu@sibs.ac.cn
指导博士
生总数0指导硕士
生总数3已毕业学生通讯地址上海市重庆南路225号
目前博士
生数0目前硕士
生数1目前在校生邮政编码200025
研究方向人类疾病发生的分子机制
研究工作利用生物信息和实验手段阐明疾病相关基因在疾病发生发展过程中的作用，为疾病的诊断和有效防治奠定基础。独立承担两项自然科学基金面上项目,一项自然基金重点项目，一项国家科技攻关计划课题“识别人类基因组功能性变异”。
获奖情况
200３年上海市科技进步一等奖（第二完成人）
指导研究
生情况
协助指导博士生5名、硕士生3名
个人简介1989年7月毕业于南开大学物理系、生物物理专业学士
1989年8月到1996年1月天津市肿瘤研究所，实习研究员、助理研究员
1996年2月-1997年7月德国马克斯－普朗克分子遗传所访问学者
1997年12月到2002年3月中国科学院上海生物工程研究中心助理研究员、副研究员
2004年1月到2004年3月英国剑桥MRC分子生物学实验室访问学者
2002年4月至今中国科学院上海生命科学研究院上海交通大学医学院健康科学研究所
副研究员、研究员
2007年3月到2008年6月英国剑桥MRC分子生物学实验室访问学者
近期论文1.YinS,DengW,HuL,KongX.Theimpactofnucleosomepositioningontheorganizationofreplicationoriginsineukaryotes.BiochemBiophysResCommun.2009Jul31;385(3):363-8.
2.ZhangZ,XinD,WangP,ZhouL,HuL,KongX,HurstLD.Noisysplicing,morethanexpressionregulation,explainswhysomeexonsaresubjecttononsense-mediatedmRNAdecay.BMCBiol.2009May14;7:23.
3.WangZQ,SiL,TangQ,LinD,FuZ,ZhangJ,CuiB,ZhuY,KongX,DengM,XiaY,XuH,LeW,HuL,KongX.Gain-of-functionmutationofKITligandonmelaninsynthesiscausesfamilialprogressivehyperpigmentation.AmJHumGenet.2009May;84(5):672-7.
4.YinS,DengW,ZhengH,ZhangZ,HuL,KongX.Evidencethatthenonsense-mediatedmRNAdecaypathwayparticipatesinXchromosomedosagecompensationinmammals.BiochemBiophysResCommun.2009Jun5;383(3):378-82.
5.ShiX,CuiB,WangZ,WengL,XuZ,MaJ,XuG,KongX,HuL.RemovalofHsf4leadstocataractdevelopmentinmicethroughdown-regulationofgammaS-crystallinandBfspexpression.BMCMolBiol.2009Feb19;10:10.
6.WangP,YinS,ZhangZ,XinD,HuL,KongX,HurstLD.Evidenceforcommonshortnaturaltranssense-antisensepairingbetweentranscriptsfromproteincodinggenes.GenomeBiol.2008Dec2;9(12):R169.[Epubaheadofprint]
7.ShiY,ShiX,JinY,MiaoA,BuL,HeJ,JiangH,LuY,KongX,HuL.MutationscreeningofHSF4in150age-relatedcataractpatients.MolVis.2008;14:1850-5.Epub2008Oct20.
8.XinD,HuL,KongX.Alternativepromotersinfluencealternativesplicingatthegenomiclevel.PLoSONE.2008Jun18;3(6):e2377.
9.ZhouP,WangZ,ZhangJ,HuL,KongX.IdentificationofanovelGPR143deletioninaChinesefamilywithX-linkedcongenitalnystagmus.MolVis.2008May30;14:1015-9.
10.ZhangH,ZhangQ,WangL,ChenH,LiY,CuiT,HuangW,ZhangL,YanF,WangL,XuY,HuL,KongX.AssociationofIL4RgenepolymorphismswithasthmainChinesepopulations.HumMutat.2007Oct;28(10):1046.
11.WangZQ,TianSH,ShiYZ,ZhouPT,WangZY,ShuRZ,HuL,KongX.AsingleCtoTtransitioninintron5ofLMBR1geneisassociatedwithtriphalangealthumb-polysyndactylysyndromeinaChinesefamily.BiochemBiophysResCommun.2007Apr6;355(2):312-7.Epub2007Feb2.
12.ZhuY,ZhangW,HuoZ,ZhangY,XiaY,LiB,KongX,HuL.Anovellocusformaternallyinheritedhumangingivalfibromatosisatchromosome11p15.HumGenet.2007Mar;121(1):113-23.Epub2006Oct31.
13.WangXF,XiaoMZ,ShiJN,ZhangHB,HuLD,KongXY.[IRF6genemutationanalysisinavanDerWoudesyndromefamilyinHenanprovince]ShanghaiKouQiangYiXue.2005Jun;14(3):234-7.Chinese.
14.LuY,YuY,ZhuZ,XuH,JiJ,BuL,LiuB,JiangH,LinY,KongX,HuL.Identificationofanewtargetregionbylossofheterozygosityat5p15.33insporadicgastriccarcinomas:genotypeandphenotyperelated.CancerLett.2005Jun28;224(2):329-37.Epub2005Jan26.
15.YeL,LiX,KongX,WangW,BiY,HuL,CuiB,LiX,NingG.HypomethylationinthepromoterregionofPOMCgenecorrelateswithectopicoverexpressioninthymiccarcinoids.JEndocrinol.2005May;185(2):337-43.
16.WeiS,YangS,LinD,LiM,ZhangX,BuL,ZhengG,HuL,KongX,ZhangX.Anovellocusfordisseminatedsuperficialporokeratosismapstochromosome18p11.3.JInvestDermatol.2004Nov;123(5):872-5.
17.CuiB,ZhangH,LuY,ZhongW,PeiG,KongX,HuL.Refinementofthelocusfornon-syndromicsensorineuraldeafness(DFN2).JGenet.2004Apr;83(1):35-8.
18.ZhengG,HuL,HuangW,ChenK,ZhangX,YangS,SunJ,JiangY,LuoG,KongX.CYLDmutationcausesmultiplefamilialtrichoepitheliomainthreeChinesefamilies.HumMutat.2004Apr;23(4):400.
19.ChangQ,PangJC,LiJ,HuL,KongX,NgHK.MolecularanalysisofPinX1inmedulloblastomas.IntJCancer.2004Mar20;109(2):309-14.
20.JiangH,JinY,BuL,ZhangW,LiuJ,CuiB,KongX,HuL.AnovelmutationinGJA3(connexin46)forautosomaldominantcongenitalnuclearpulverulentcataract.MolVis.2003Oct24;9:579-83.
21.YuC,MengX,ZhangS,ZhaoG,HuL,KongX.A3-nucleotidedeletioninthepolypyrimidinetractofintron7oftheDFNA5genecausesnonsyndromichearingimpairmentinaChinesefamily.Genomics.2003Nov;82(5):575-9.
22.WangX,LiuJ,ZhangH,XiaoM,LiJ,YangC,LinX,WuZ,HuL,KongX.NovelmutationsintheIRF6geneforVanderWoudesyndrome.HumGenet.2003Oct;113(5):382-6.Epub2003Aug14.
23.HuLD,ZhengGY,JiangHS,XiaY,ZhangY,KongXY.Mutationanalysisof20SARSvirusgenomesequences:evidencefornegativeselectioninreplicaseORF1bandspikegene.ActaPharmacolSin.2003Aug;24(8):741-5.
24.ZhongW,CuiB,ZhangY,JiangH,WeiS,BuL,ZhaoG,HuL,KongX.Linkageanalysissuggestsalocusofichthyosisvulgarison1q22.JHumGenet.2003;48(7):390-2.Epub2003Jun28.
25.LiJ,HuLD,WangWJ,ChenYG,KongXY.Linkageanalysisofthecandidategenesoffamilialrestlesslegssyndrome.YiChuanXueBao.2003Apr;30(4):325-9.
26.ShiYZ,WangDP,HuLD,ZhaoGP,WangYZ,KongXY,LiSR.Ahigh-resolutiongeneticandphysicalmapofamousecoatabnormalitylocus(Uncv).ShengWuHuaXueYuShengWuWuLiXueBao(Shanghai).2003May;35(5):397-402.
27.BuL,JinY,ShiY,ChuR,BanA,EibergH,AndresL,JiangH,ZhengG,QianM,CuiB,XiaY,LiuJ,HuL,ZhaoG,HaydenMR,KongX.MutantDNA-bindingdomainofHSF4isassociatedwithautosomaldominantlamellarandMarnercataract.NatGenet.2002Jul;31(3):276-8.Epub2002Jun24.
28.BuL,YanS,JinM,JinY,YuC,XiaoS,XieQ,HuL,XieY,SolitangY,LiuJ,ZhaoG,KongX.ThegammaS-crystallingeneismutatedinautosomalrecessivecataractinmouse.Genomics.2002Jul;80(1):38-44.
29.XiaoS,BuL,ZhuL,ZhengG,YangM,QianM,HuL,LiuJ,ZhaoG,KongX.Anewlocusforhereditarygingivalfibromatosis(GINGF2)mapsto5q13-q22.Genomics.2001Jun1;74(2):180-5.
30.XiaoS,YuC,ChouX,YuanW,WangY,BuL,FuG,QianM,YangJ,ShiY,HuL,HanB,WangZ,HuangW,LiuJ,ChenZ,ZhaoG,KongX.Dentinogenesisimperfecta1withorwithoutprogressivehearinglossisassociatedwithdistinctmutationsinDSPP.NatGenet.2001Feb;27(2):201-4.
31.XiaoS,WangX,QuB,YangM,LiuG,BuL,WangY,ZhuL,LeiH,HuL,ZhangX,LiuJ,ZhaoG,KongX.Refinementofthelocusforautosomaldominanthereditarygingivalfibromatosis(GINGF)toa3.8-cMregionon2p21.Genomics.2000Sep15;68(3):247-52.
32.RiesewijkAM,HuL,SchulzU,TariverdianG,HöglundP,KereJ,RopersHH,KalscheuerVM.MonoallelicexpressionofhumanPEG1/MESTisparalleledbyparent-specificmethylationinfetuses.Genomics.1997Jun1;42(2):236-44.
33.RiesewijkAM,BlagitkoN,SchinzelAA,HuL,SchulzU,HamelBC,RopersHH,KalscheuerVM.EvidenceagainstamajorroleofPEG1/MESTinSilver-Russellsyndrome.EurJHumGenet.1998Mar-Apr;6(2):114-20.
