期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

肾病综合征激素耐药与NPHS2基因 被引量：11

Steroid-resistant nephrotic syndrome and NPHS2 gene
原文传递
导出
作者 余自华 丁洁
机构地区 北京大学第一医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2005年第2期154-156,共3页 Chinese Journal of Pediatrics
基金 国家自然科学基金 ( 30371495 39770780 和39970775) 留学回国人员科研启动基金(2003 14)
关键词 肾病综合征 激素耐药 NPHS2基因 高胆固醇血症 低蛋白血症
分类号 R726.9 [医药卫生—儿科]
  • 相关文献

参考文献20

  • 1余自华,丁洁,管娜,石岩,张敬京,黄建萍,姚勇,杨霁云.一个中国汉族人家族性激素耐药型肾病综合征家系NPHS2基因新突变[J].中华儿科杂志,2004,42(2):108-112. 被引量：25
  • 2余自华,丁洁,黄建萍,姚勇,肖慧捷,张敬京,刘景城,杨霁云.散发性儿童激素耐药型肾病综合征NPHS2基因突变[J].中华肾脏病杂志,2004,20(6):413-417. 被引量：15
  • 3Fuchshuber A, Jean G, Gribouval O, et al. Mapping a gene(SRNI) to chromosome 1q25-q31 in idiopathic nephrotic syndrome cortfirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet, 1995, 4 : 2155-2158.
  • 4Katie SM, Uetz B, Ronner V, et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Sec Nephrol ,2002, 13: 388-393.
  • 5Caridi G, Bertelli R, C-arrea A, et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroidresistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol ,2001, 12: 2742-2746.
  • 6Ruf RG, Lichtenberger A, Katie SM, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol, 2004,15:722-732.
  • 7Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroidresistant nephrotic syndrome. Nat Genet, 2000, 24: 349-354.
  • 8Frishberg y, Rinat C, Megged O, et al. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol, 2002,13 : 400-405.
  • 9Koziell A, Grech V, Hussain S, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet ,2002, 11: 379-388.
  • 10Tsukaguchi H, Sudhakar A, Le TC, et al. NPHS2 mutations in lateonset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest, 2002,110 : 1659-1666.

二级参考文献21

  • 1Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet, 2000, 24:349-354.
  • 2Karle SM, Uetz B, Ronner V, et al. Novel mutations in NPHS2detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol, 2002, 13:388-393.
  • 3Caridi G, Bertelli R, Di Duca M, et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol, 2003,14: 1278-1286.
  • 4Frishberg Y, Rinat C, Megged O, et al. Mutations in NPHS2encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol, 2002, 13: 400-405.
  • 5Maruyama K, Iijima K, Ikeda M, et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.Pediatr Nephrol, 2003, 18:412-416.
  • 6Wang F,Ding J,Guo S,et al.Phenotypic and genotypic features of Alport syndrome in Chinese children.Pediatr Nephrol,2002,17:1013-1020.
  • 7Xiao WZ,Oefner PJ.Denaturing high-performance liquid chromatography:a review.Hum Mutat,2001,17:439-474.
  • 8den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet, 2001, 109: 121-124.
  • 9Wu MC, Wu JY, Lee CC, Tsai CH, Tsai FJ. A novel polymorphism (c288C ＞ T) of the NPHS2 gene identified in a Taiwan Chinese family. Hum Mutat, 2001, 17: 81-82.
  • 10Haga H, Yamada R, Ohnishi Y, et al. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190, 562 genetic variations in the human genome. Singlenucleotide polymorphism. J Hum Genet, 2002, 47: 605-610.

共引文献33

同被引文献136

引证文献11

二级引证文献68

中华儿科杂志
2005年 第2期

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