Mao J, Zhang Y, Du L, Dai Y, Gu W, Liu A, Shang S, Liang L (2007) NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatr Res 61:117-122Mao J,Zhang Y,Du L,et al.NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic ...
【Keywords】Nephroticsyndrome;Drugresistantce;NPHS2gene;Podoein;Chinese 原发性肾病综合征(NS)是儿童常见的肾小球 基金项目:国家自然科学基金(30170992,39770780, 39970775);北京市自然科学基金(7032029);留学回国人员科研启 动基金(2003—14号);北京大学人类疾病基因研究中心科研基金 ...
Mutation analysis for NPHS2 was carried out by single-strand conformation polymorphism (SSCP) analysis for exons 2–7, as described previously in Boute et al11, and by direct sequence analysis for exons 1 and 8. Exons of the NPHS1 gene were amplified by PCR using flanking intronic primers26...
中国南方汉族人家族性激素耐药型肾病综合征家系NPHS2基因突变 濮阳市油田总医院儿科 付 荣 陈新民 王庆华 陈胜平 余自华 叶礼燕 任榕娜 黄隽 王承峰 【摘要】 目的 分析中国南方汉族人家族性激素耐药型肾病综合征(SRNS家系朋瑁配基因突变及其特点。方法 研究对象为A、B、C 3个南方汉族人SRNS家系先证者及其姐和父...
gene actsasthe independent riskfactorsfor type 2 diabeticpatients withmassiveproteinuria.NPHS2geneG755一Amutationmayoneof the geneticsuSceptible factorsfor type 2diabeteswithmassiVe proteinuria。 【ll,ey word】 NPHS2, diabetes melIitus,1ype 2 diabetic ...
Rachmadi D, Melani A, Monnens A, et al; NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome. Open Journal of Pediatrics, 2015, 5, 27-33. Gbadegesin R, Bartkowiak B, Lavin PJ, Mukerji N, Wu G, Bowling B, Eckel J,...
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome Non-responsiveness of these children would be a risk with the possibility of mutational changes in podocyte genes (NPHS1, NPHS2, WT1, PLCE1). The ... ASK Ramanathan,M Vijayan,S Rajagopal,... ...
[Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome]. Chin J Contemp Pediatr, 2014, 16(1): 99-103. [张黎雯, 王乐平. 足细胞相关突 变基因致激素耐药型肾病综合征的机制研究进展[ J]. 中国 当代儿科杂志, ... LW Zhang...
including NPHS2 and NPHS1 intron-exon boundary sequences, as well as 700 bp of the 5' UTR from both genes in 27 steroid-resistant patients aged between 3 months and 18 years.Analysis of the NPHS2 gene revealed four missense mutations, one frameshift mutation and three variations in the 5'...
Gene detection verified a NPHS2 gene mutation. Both of them were hormone resistant at the beginning of onset and later hormone combined with different kinds ofimmunosuppressive therapy was still ineffective. Both of them entered the end-stage of renal disease 3 years after onset. Conclusions For ...