两例希腊先天性肾病综合征患者中的新型及已知肾足蛋白基因（NPHS1）突变，包括一种复杂基因型。 - Suppr

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

作者信息

Fylaktou Irene, Megremis Spyridon, Mitsioni Andromachi, Kitsiou-Tzeli Sofia, Kosma Konstantina, Bitsori Maria, Stefanidis Constantinos J, Kanavakis Emmanuel, Traeger Synodinos Joanne

机构信息

Medical Genetics, Athens University, "Aghia Sofia" Children's Hospital, Thivon and Levadeias, Ampelokipoi 11527, Athens, Greece.

出版信息

J Genet. 2013 Dec;92(3):577-81. doi: 10.1007/s12041-013-0290-7.

DOI:10.1007/s12041-013-0290-7

PMID:24371179

Abstract

摘要

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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.两例希腊先天性肾病综合征患者中的新型及已知肾足蛋白基因（NPHS1）突变，包括一种复杂基因型。

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.先天性肾病综合征中nephrin基因（NPHS1）的突变谱

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Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.在全球先天性肾病综合征患者队列中对 NPHS1 进行突变分析。

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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.先天性肾病综合征（NPHS1）：芬兰患者不同突变导致的特征

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Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.一大群先天性肾病综合征患儿中发现的13种新的NPHS1突变

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.肾病综合征中NPHS1和NPHS2突变的基因型/表型相关性表明肾小球滤过存在功能上的相互关系。

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Eur J Pediatr. 2011 Dec;170(12):1529-34. doi: 10.1007/s00431-011-1450-5. Epub 2011 Apr 16.

Genetics in clinical practice: nephrotic and proteinuric syndromes.临床实践中的遗传学：肾病和蛋白尿综合征。

Nephron Exp Nephrol. 2011;118(1):e1-8. doi: 10.1159/000320878. Epub 2010 Nov 11.

A method and server for predicting damaging missense mutations.一种预测有害错义突变的方法及服务器。

Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248.

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.足细胞裂孔隔膜蛋白基因突变导致儿童及成人局灶节段性肾小球硬化症。

Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7.

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.使用SIFT算法预测编码非同义变体对蛋白质功能的影响。

Nat Protoc. 2009;4(7):1073-81. doi: 10.1038/nprot.2009.86. Epub 2009 Jun 25.

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.一种干扰功能性微结构域组装的nephrin突变导致复发性肾病综合征的易感性。

Hum Mol Genet. 2009 Aug 15;18(16):2943-56. doi: 10.1093/hmg/ddp232. Epub 2009 May 14.

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.希腊患类固醇抵抗性肾病综合征儿童的NPHS2基因中的核苷酸变异

Genet Test Mol Biomarkers. 2009 Apr;13(2):249-56. doi: 10.1089/gtmb.2008.0083.

Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation.一名患有先天性肾病综合征和心脏畸形患者的足突蛋白突变

Pediatr Int. 2008 Dec;50(6):828-30. doi: 10.1111/j.1442-200X.2008.02744.x.

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Nephrin基因突变可导致儿童期起病的激素抵抗型肾病综合征。

J Am Soc Nephrol. 2008 Oct;19(10):1871-8. doi: 10.1681/ASN.2008010059. Epub 2008 Jul 9.

Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.采用酶切错配分析（ECMA）方案筛选人类基因中的微小改变。

Mol Biotechnol. 2007 Nov;37(3):212-9. doi: 10.1007/s12033-007-0065-6. Epub 2007 Aug 3.

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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

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