感音神经性聋分子生物学研究进展
罗伟
1:解放军四一四医院耳鼻咽喉科 南京210015
摘要关键词基金项目(Foundation):作者参考文献1 HmaniM ,GhorbelA ,BoulilaElgaiedA ,etal.AnovellocusforUshersyndrometypeⅡ,USH2B ,mapstochromosome3atp23-24.2[J].EurJHumGenet,1999,7:363.
2 GaspariniP ,EstivillX ,FortinaP .Vestibularandhearinglossingeneticandmetabolicdisorder[J].CurrOpinNeurol,1999,12:35.
3 KubischC ,SchroederBC ,FriedrichT ,etal.KCNQ4,anovelpotassiumchannelexpressedinsensoryouterhaircells,ismutatedindominantdeafness[J].Cell,1999,96:437.
4 HassonT ,HeintzelmanMB ,SantosSacchiJ ,etal.ExpressionincochlearandretinoofmyosinVIIa,thegeneproductdefectiveinUshersyndrometype1B[J].ProcNatlAcadSciUSA ,1995,92:9815.
5 MasmoudiS ,CharfedineI ,HmaniM ,etal.Pendredsyndrome:pheno typicvariabilityintwofamiliescarryingthesamePDSmissensemuta tion[J].AmJMedGenet,2000,90:38.
6 YajimaI ,SatoS ,KimuraT ,etal.AnL1elementintronicinsertionintheblack-eyedwhite(Mitf[mi-bw])gene:thelossofasingleMitfiso formresponsibleforthedefectandinnereardeafness[J].HumMolGenet,1999,8:1431.
7 FukushimaK ,KasaiN ,UekiY ,etal.Ageneforfluctuating,progressiveautosomaldominantnonsyndromichearingloss,DFNA16,mapstochro mosome2q23-24.3[J].AmJHumGenet,1999,65:141.
8 SeidmanMD .Effectsofdietaryrestricitionandantioxidiantsonpresby acusis[J].Laryngoscope,2000,110:727.
9 SeidmanMD ,KhanMJ ,BaiU ,etal.Biologicactivityofmitochondrialmetabolitiesonagingandage-relatedhearingloss[J].AmJOtol,2000,21:161.
10 YamasobaT ,SchachtJ ,ShojiF ,etal.Attenuationofcochleardamagefromnoisetraumabyanironchelator,afreeradicalscavengerandglialcellline-derivedneurotrophicfactorinvivo[J].BrainRes,1999,815:317.
11 JohnsonDF ,PrezantTR ,LubavinB ,etal.Isolationofoverexpressedyeastgeneswhichpreventsaminoglycosidetoxicity[J].HearRes,1998,120:62.
12 EstivillX ,GoveaN ,BarceloE ,etal.Familialprogressivesensorineu raldeafnessismainlyduetothemtDNAA1555Gmutationandisen hancedbytreatmentofaminoglycosides[J].AmJHumGenet,1998,62:27.
13 HutchinT .Sensorineuralhearinglossandthe1555GmitochondrialDNAmutation[J].ActaOtolaryngol,1999,119:48.
14 CasanoRA ,JohnsonDF ,BykhovskayaY ,etal.Inheritsusceptibilitytoaminoglycosideototoxicity:geneticheterogeneityandclinicimplications[J].AmJOtolaryngol,1999,20:151.
15 EnsinkRJ ,VerhoevenK ,MarresHA ,etal.Earlyonsetsensorineuralhearinglossandlateonsetneurologicalcompliantscausedbyamito chondrialmutationatposition7472[J].ArchOtolaryngolHeadNeckSurg,1998,124:886.
16 SkvorakGierschAB ,MortonCC .Geneticcauseofnonsyndromichea ringloss[J].CurrOpinPediatr,1999,11:551.
17 GillH ,MichaelsL ,PhelpsPD ,etal.HistopathologicalfindingssuggestthediagnoiseinanatypicalcaseofPendredsyndrome[J].ClinOtola ryngol,1999,24:523.
18 EudyJD ,WestonMD ,YaoS ,etal.Mutationofageneencodingapro teinwithextracellularmatrixmotifsinUshersyndrometypeⅡa[J].Science,1998,280:175