与囊状纤维化相关的囊状纤维跨膜电导调节因子基因突变体研究进展
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关键词:
- 囊状纤维跨膜电导调节因子 /
- 囊状纤维化 /
- 基因突变体 /
- 氯离子 /
- 综述
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[1] 刘亭威,康健.中国人囊性纤维化临床特点分析[J].中国全科医学,2012,24(15),2807-2810. [2] Welsh MJ,Smith AE.Cystic Fibrosis[J].Sci Am,1995,273(6):52-59. [3] Riordan JR,Rommens JM,Kerem B,et al.Identification of the cystic fibrosis gene:cloning and characterization of complementary DNA[J].Science,1989,245(4922):1066-1073. [4] Kerem B,Rommens JM,Buchanan JA,et al.Identification of the cystic fibrosis gene:genetic analysis[J].Science,1989,245:1073-1080. [5] 吕涛,魏睦新,等.CFTR基因突变对生殖系统影响的研究进展[J].现代中西医结合杂志,2009,18(7):822-824. [6] Rommens JM,Iannuzzi MC,Kerem B,et al.Identification of the Cystic Fibrosis Gene:Chromosome Walking and Jumping[J].Science,1989,245:1059-1065. [7] Deen M,Santis G.Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.Hum Genet,1994,93(4):364-368. [8] 刘长卿,付积杰.肺囊性纤维化的CT诊断[J].中外医疗,2012,19(31):170-171. [9] 朱甫祥,宫贤弟,刘泽隆,等.TMD2前断裂CFTR翻译后的连接及氯离子通道功能[J].生物工程学报,2010,26(12):1710-1716. [10] Randak CO,Welsh MJ.Role of CFTR's intrinsic adenylate kinase activity in gating of the Cl- channel J Bioenery Biomembr[J].J Bioenerg Biomembr,2007,39(5/6):473-479. [11] 李慧,于波.囊性纤维化治疗的研究进展[J].医学综述,2010,16(3):357-359. [12] Sheppard DN,Welsh MJ.Structure and function of the CFTR chloride channel[J].Physiol Rev,1999,79(1 Suppl):S23-S45. [13] 黄沁,魏睦新.与慢性胰腺炎相关的囊性纤维化跨膜传导调节因子[J].江苏医药,2008,34(5):511-512. [14] IVla J.Stimulatory and inhibitory function of the R domin on CFTR Chloridechanel [J].News Physiol Sei,2000,15(6):154-158. [15] 郭晓强.CFTR型氯离子通道研究进展[J].生命科学,2007,19(2):189-193. [16] Smith JJ,Travis SM,Greenberg EP,et al.Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid[J].Cell,1996,85(2):229-236. [17] 侯曙光,林森,于波,等.木犀草素促进囊性纤维化跨膜电导调节冈子氯离子通道开放[J].中国临床药理学与治疗学,2008,13(3):249-253. [18] Rowe SM,Miller S,Sorscher EJ.Cystic fibrosis[J].N Engl J Med,2005,352(19):1992-2001. [19] Younger JM,Chen L,Ren HY,et al.Sequential qualitycontrol checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator[J].Cell,2006,126(3):571-582. [20] Stuhrmann M.Das klinische Spektrum von Fertilittsstrungen durch Mutationen im CFTR-Gen[J].Reproduktionsmedizin,1998,14(1):54-65. [21] Riordan JR.Assembly of functional CFTR chloride channels[J].Annu Rev Physiol,2005,67:701-718. [22] Tarran R,Button B,Picher M,et al.Normal and cystic fibrosis airway surface liquid homeostasis:the effect of phasic shear stress and viral infections[J].Biol Chem,2005,280(42):35751-35759. [23] Proesmans M,Vermeulen F,De Boeck K.What's new in cystic fibrosis From treating symplom to correction of the basic defect[J].Eur J Pediatr,2008,167(8):839-849. [24] Moskowitz SM,Chmiei JF,Sternen DL,et al.Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders[J].Genel Med,2008,10(12):851-868. [25] Ni WH,Jiang L,fei QJ,et al.The CFTR polymorphisms poly-T,TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens[J].Asian J Andro,2012,14(5):687-690. [26] 关菁,沈浣,韩红敬,等.CFTR在人类生殖与不孕中的作用[J].生殖与避孕,2010,30(6):423-428.
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