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Connexin蛋白与耳聋 被引量:11

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摘要 耳聋是一种常见的人类感觉系统疾病,病因复杂、发生率高、治疗闲难。对耳聋的病因、致病机制以及防治措施的研究具有重大意义。随着分子生物学技术的发展,人们对于耳聋的认识不断深入,其中Connexin蛋白因在遗传性耳聋中的作用而被广泛研究。
出处 《中华耳科学杂志》 CSCD 北大核心 2013年第1期156-159,共4页 Chinese Journal of Otology
基金 河北省自然基金面上项目(C2008000906)
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参考文献26

  • 1Forge A, Becker D, Casalotti S, et al. Connexins and gap junction in the inner ear. Audiol Neurotol, 2002,7(3) : 141-145.
  • 2Hoang Dinh E, Ahmad S, Chang Q, et al. Diverse deafness mecha- nisms of connexin mutations revealed by studies using in vitro ap- proaches and mouse models. Brain Res, 2009,24(1277): 52-69.
  • 3Nakagawa S, Maeda S, Tsukihara T. Structural and functional stud- ies of gap junction channels.Current Opinion in Structural Biology, 2010, 20(4):423-430.
  • 4Tang Q, Dowd TL, Bargiello VK ,et al. Conformational changes in a pore-forming region underlie voltage-dependent"loop gating" of an unapposed connexin hemichannel.Gen Physiol,2009,133(6): 555-570.
  • 5Musa H, Fenn E, Crye M, et al. Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions . Physiol, 2004, 557(3): 863-878.
  • 6Oh S, Verselis VK, Bargiello TA. Charges dispersed over the perme- ation pathway determine the charge selectivity and conductance of a Cx32 chimeric hemichannel. Physiol, 2008, 586(10):2445-2461.
  • 7Zonta F, Polles G, Zanotti G, et al. Permeation Pathway of Homomer- ic Connexin 26 and Connexin 30 Channels Investigated by Molecu- lar Dynamics . Biomolecular Structure & Dynamics, 2012, 29(5): 985-998.
  • 8Oshima A, Tani K, Toloue MM, et al. Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction Channels. Mol.Biol, 2011,405(3):724-735.
  • 9Gemel J, Lin X, Veenstra RD, et al. N-terminal residues in Cx43 and Cx40 determine physiological properties of gap junction chan- nels, but do not influence heteromeric assembly with each other or with Cx26. Cell Sei, 2006, 119(11):2258-2268.
  • 10Kyle JW, Minogue PJ, Thomas BC, et al. An intact connexin N-ter- minus is requiredfor function but not gap junction formation .Cell Sci ,2008,121 ( 16):2744-2750.

二级参考文献41

  • 1戴朴,于飞,康东洋,张昕,刘新,米文宗,曹菊阳,袁慧军,杨伟炎,吴柏林,韩东一.线粒体DNA1555位点和GJB2基因及SLC26A4基因的诊断方法及临床应用[J].中华耳鼻咽喉头颈外科杂志,2005,40(10):769-773. 被引量:91
  • 2戴朴,刘新,于飞,朱庆文,袁永一,杨淑芝,孙勍,袁慧军,杨伟炎,黄德亮,韩东一.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5. 被引量:167
  • 3Cryns K,Van Camp G.Deafness genes and their diagnostic applications[J].Audiol Neurootol,2004,9:2.
  • 4Kenneson A,Van Naarden Braun K,Boyle C.GJB2(connexin 26)variants and nonsyndromie Sensorineural hearing loss:A Huge review[J].Genet Med,2002,4:258.
  • 5Van Laer L,Coucke P,Mueller RF,et al.A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment[J].J Med Genet,2001,38:515.
  • 6Ohtsuka A,Yuge I,Kimura S,et al.GJB2 deafness gene shows a specific spectrum of mutations in Japan,including a frequent founder mutation[J].Hum Genet,2003,112:329.
  • 7Yan D,Park HJ,Ouyang XM,et al.Evidence of a founder effect for the 235delC mutation of GJB2(connexin 26)in east Asians[J].Hum Genet,2003,114:44.
  • 8Snoeckx RL,Huygen PLM,Feldmann D,et al.GJB2 mutations and degree of hearing loss:A mutticenter study[J].Am J Hum Genet,2005,77:945.
  • 9Cryns K,Orzan E,Murgia A,et al.A genotype-phenotype correlation for GJB2(connexin 26)deafness[J].J Med Genet,2004,41:147.
  • 10Hilgert N,Huentelman MJ,Thorburn AQ,et al.Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene[J].Eur J Hum Genet,2009,17:517.

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