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A novel mutation of NPHS2 identified in a Chinese family
Yu, ZH; Ding, J; Guan, N; Shi, Y; Zhang, JJ; Huang, JP; Yao, Y; Yang, JY
关键词steroid-resistant nephrotic syndrome NPHS2 podocin focal segmental glomerulosclerosis Chinese
刊名PEDIATRIC NEPHROLOGY
2004-11-01
DOI10.1007/s00467-004-1585-y
19期:11页:1285-1289
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics ; Urology & Nephrology
研究领域[WOS]Pediatrics ; Urology & Nephrology
关键词[WOS]FOCAL SEGMENTAL GLOMERULOSCLEROSIS ; RESISTANT NEPHROTIC SYNDROME ; PODOCIN MUTATIONS ; GLOMERULAR PROTEIN ; CHILDREN ; FEATURES ; NEPHRIN ; GENE
英文摘要

Since the identification of the NPHS2 gene, which encodes podocin, several groups from European, Middle Eastern, and North American countries have reported NPHS2 mutations in families with steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulosclerosis (FSGS). Families with SRNS have also been reported in China with a population of more than 1.3 billion. However, to our knowledge, there is no mutational analysis of the NPHS2 gene in familial SRNS or FSGS in China. We identified a novel mutation of NPHS2 (467_468insT and 503G>A) in a Chinese family with autosomal recessive SRNS using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing techniques. The results demonstrate that there is also NPHS2 mutation in Chinese familial SRNS. Therefore, Chinese SRNS patients with a familial history of NS should also be screened for possible mutations of NPHS2. We also detected clearly decreased staining with a specific podocin C-terminal antibody (P35) and negative staining with a specific podocin N-terminal antibody (P21). These results were contrary to those predicted from the mutated sites. Further studies are needed to explore the mechanism and impact of the mutant gene on the expression and localization of the relevant protein.

语种英语
WOS记录号WOS:000224615000018
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被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61845
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
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GB/T 7714
Yu, ZH,Ding, J,Guan, N,et al. A novel mutation of NPHS2 identified in a Chinese family[J]. PEDIATRIC NEPHROLOGY,2004,19(11):1285-1289.
APA Yu, ZH.,Ding, J.,Guan, N.,Shi, Y.,Zhang, JJ.,...&Yang, JY.(2004).A novel mutation of NPHS2 identified in a Chinese family.PEDIATRIC NEPHROLOGY,19(11),1285-1289.
MLA Yu, ZH,et al."A novel mutation of NPHS2 identified in a Chinese family".PEDIATRIC NEPHROLOGY 19.11(2004):1285-1289.
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