期刊文献+

V-ATPase与耳聋相关的研究进展 被引量:1

下载PDF
导出
摘要 耳聋是影响人类健康和造成人类残疾的常见原因。造成耳聋的原因是多方面的。但是大致可以归为环境因素和遗传因素两大类,遗传因素为主要因素。先天性耳聋的发病率约为1/1000(新生儿)。在我国,每年有30000个患有先天性听力损害的婴儿出生。遗传性耳聋根据是否伴有耳外组织的异常或病变可分为综合征性耳聋(syndromie bearing loss,SHE)和非综合征性耳聋(nonsyndromic heatingloss,NSHL)。在发达国家的语前聋患者中,至少2/3的患者是遗传性耳聋。在遗传性耳聋患者中,NSHL约占70%,SHL约占30%。
出处 《中华耳科学杂志》 CSCD 北大核心 2014年第1期77-80,共4页 Chinese Journal of Otology
基金 北京市自然科学基金面上项目(7132177) 国家科技支撑计划课题(2012BAI09B02) 国家自然科学基金重点基金(81230020) 国家自然科学基金面上项目(81371098 81371096)
  • 相关文献

参考文献2

二级参考文献12

  • 1Kawasaki-Nishi S, Nishi T, Forgac M. Proton translocation driven by ATP hydrolysis in V-ATPases. FEBS Lett, 2003, 545: 76-85.
  • 2Wagner CA, Finberg KE, Breton S, et al. Renal vacuolar H^+-ATPase. Physiol Rev, 2004, 84: 1263-1314.
  • 3Harem LL, Alpern RJ. Cellular mechanisms of renal tubular acidification. //Seldin DW, Giebisch G. eds. The Kidney: Physiology and Pathophysiology. 3rd ed. Philadelphia: Lippincott Williams &Wilkins, 2000.
  • 4Gluck SL, Underhill DM, Iyori M, et al. Physiology and Biochemistry of the kidney vacuolar H^+-ATPase. Annu Rev Physiol, 1996, 58:427-445.
  • 5Karet FE, Finberg KE, Nelson RD, et al. Mutations in the gene encoding B1 subunit of H^+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet, 1999, 21: 84-90.
  • 6Stover EH, Borthwick K J, Bavalia C, et al. Novel ATP6V1BI and ATP6VOA4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet, 2002, 39: 796-803.
  • 7Li G, Alexander EA, Schwartz JH. Syntaxin isoform specificity in the regulation of renal H^+-ATPase exocytosis. J Biol Chem, 2003, 278: 19791-19797.
  • 8Alexander EA, Shih T, Schwartz JH. H ^+ secretion is inhibited by clostridial toxins in inner medullary collecting duct cell line. Am J Physiol, 1997(6 Pt 2), 273: F1054-F1057.
  • 9Kiianitsa K, Solinger JA, Heyer WD. NADH-coupled microplate photometric assay for kinetic studies of ATP- hydrolyzing enzymes with low and high specific activities. Anal Biochem, 2003, 321: 266-271.
  • 10Arata Y, Baleja JD, Forgac M. Localization of subunits D, E, and G in the yeast V-ATPase complex using cysteinemediated cross-linking to subunit B. Biochemistry, 2002, 41: 11301-11307.

共引文献5

同被引文献3

引证文献1

二级引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部