However, this homozygous variant was also found in 1 of 44 normal controls, suggesting that the mutation is a polymorphism. Two silent variants (T954C and A1038G) in exon 8 of this gene were also identified in some of the patients and normal controls, indicating that the silent variants ...
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'...
mutation,L361P(1082T>C)thatisnovel,inexon8ofNPHS2,wasdetectedin1of23patie nts(4.3%), whereasitwasnotfoundin106controlchromosomes.SixNPHS2polymorphisms(288C> ;T,IVS3-46C> T,IVS3—21C>T,IVS7— 74C>G,954T>Cand1038A>G)werealsoidentifiedinsomeofthepatients ...
研究表明,FSGS分为原发性和次发性,只有原发性FSGS患者肾移植术后会发生复发,其成因还有待明确,而次发性FSGS主要由遗传因素(次发性FSGS 的主要成因:主要由肾小球相关基因出现特异性点突变引起)、病原菌入侵 (如HIV,人类小病毒B19、猴病毒SV40、巨细...
%Objective To explore the clinical features of steroid resistant nephrotic syndrome caused by NPHS2 gene mutation. Methods The clinical data of two pediatric patients with steroid resistant nephrotic syndrome were retrospectively analyzed. The pertinent literatures were reviewed. Results Both patients were ...
A high recurrence rate of focal segmental glomerulosclerosis (FSGS) is one of the most frequent events after kidney transplantation, with a risk of graft loss in more than 50% of the affected patients, but patients with a homozygous podocin mutation (NPHS2) are at low risk of FSGS recurrence...
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet. 2014; 46(3): 299-304. [Ban A. Abdulmajeed, Shatha Hussain Ali and Sally Ahmed Kadhim. (2019); ADENINE-TO-CYTOSINE 637 SINGLE NUCLEOTIDE POLYMORPHISM OF NPHS2 EXON ...
Objective To examine mutation of NPHS2 gene in 30 sporadic Chinese children with steroid - resistant nephrotic syndrome (SRNS) ,and to investigate the poss... 虞萍,张瑶,陆婉维,... - 《中华实用儿科临床杂志》 被引量: 0发表: 2012年 激素抵抗肾病综合征的临床及遗传机制研究 NPHS2基因基因突变遗传机...
中国南方汉族人家族性激素耐药型肾病综合征家系NPHS2基.doc,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(
withmassiveproteinuria.NPHS2geneG755一Amutationmayoneof the geneticsuSceptible factorsfor type 2diabeteswithmassiVe proteinuria。 【ll,ey word】 NPHS2, diabetes melIitus,1ype 2 diabetic nephropathy, gene poIymorphism,pOlymerase chain reaction-rcstriction行agment—lengthpolymorphism, ...