期刊文献+

先天性甲状腺功能减退患者钠/碘转运体基因T354P的检测分析

下载PDF
导出
摘要 先天性甲状腺功能减退症(CH)是新生儿筛查中心常见的内分泌疾病,患病率为1:3000~1:4000,男女比例为1:2。目前有报道显示,碘转运障碍(ITD)是引起CH的重要病㈥之一,它是南于钠/碘转运同转运体基因突变导致甲状腺主动浓聚碘的功能缺陷所致。
出处 《浙江医学》 CAS 2012年第20期1693-1694,共2页 Zhejiang Medical Journal
基金 浙江省教育厅科研项目(Y200804085)
  • 相关文献

参考文献10

  • 1Christine Spitzwega, John C. Morrisb. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations[J]. Molecular and Cellular Endocrinology,2010,322: 56-63.
  • 2Kosugi S, Inoue S, Matsuda A, et al. Novel missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients[J]. J Clin Endocrinol Metab,1998,83( 9 ): 3373-3376.
  • 3Fujiwara H,Tatsumi K,Tanaka S,et al. A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect[J]. Thyroid, 2000, 10(6): 471-474.
  • 4Pohlenz J, Medeiros-Neto G,Gross J L,et al. Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene[J]. Biochem Biophys Res Commun,1997,17,240( 2 ): 488-491.
  • 5Kosugi S,Okamoto H,Tamada A,et al. A novel peculiar mutation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect[J]. J Clin Endoerinol Metab, 2002, 87(8): 3830-3836.
  • 6Fujiwara H,Tatsumi K,Miki K,et al. Congenital hypothyroidism caused by a mutation in the Na+/I - symporter[J]. Nat Genet, 1997,16(2}: 124-125.
  • 7Bert De Groef, Brigitte R Decallonne, Serge Van der Geyten, et al. Perchlorate versus other environmental sodium/iodide sym- porter inhibitors: potential thyroid-related health effects[J]. European Journal of Endocrinology,2006,155: 17-25.
  • 8Masao Miyagawa, Moritz Beyer, Bettina Wagner, et al. Cardiac reporter gene imaging using the human sodium/iodide symporter gene[J]. Cardiovascular Research,2005,65: 195-202.
  • 9T Kogai, K Taki, G A Brent. Enhancement of sodium/iodide symporter expression in thyroid and breast cancer [J]. Endocrine-Related Cancer,2006,13: 797-826.
  • 10Mohammad A.Abduljabbar,Ashraf M. Afifi. Congenital hypothyroidism[J].Journal of Pediatric Endocrinology and Metabolism, 2012,25(1-2): 13-29.

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