|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Kidney Int 2005; 67: 1248-1255) that suggested that the mutation of NPHS1 was not a major cause of CNS in Japanese patients.
|
19321760 |
2009 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found bi-allelic mutations in 36 of the 62 families (58%) confirming in a worldwide cohort that about one-half of CNS is caused by NPHS1 mutations.
|
20172850 |
2010 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS.
|
29663071 |
2018 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
|
22009864 |
2011 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study provides further evidence that loss of function of the nephrin gene is the main cause of congenital nephrotic syndrome of the Finnish type in Italian patients.
|
12495287 |
2003 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NPHS1, which encodes nephrin, recently has been identified as the gene in which mutations cause congenital nephrotic syndrome of the Finnish type (CNF).
|
12324903 |
2002 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in NPHS1 gene, which encodes nephrin, have been found to cause congenital nephrotic syndrome.
|
14730545 |
2004 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene.
|
10652016 |
2000 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessive disease caused by mutations in a major podocyte protein, nephrin.
|
20020158 |
2010 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1).
|
19194555 |
2009 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we conducted functional analysis of NPHS1 mutations in Japanese patients with congenital nephrotic syndrome using this simple method, which revealed that all pathogenic mutations impaired trafficking to the protein plasma membrane.
|
24142548 |
2014 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most patients with Finnish-type CNS in Europe and the United States have NPHS1 mutations.
|
15780077 |
2005 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that congenital nephrotic syndrome may be secondary to mutations of one of these three genes and that some patients have a digenic inheritance of NPHS1 and NPHS2 mutations.
|
15503167 |
2004 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.
|
12047969 |
2002 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin.
|
16941028 |
2006 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome.
|
18614772 |
2008 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, mutational analyses of NPHS1 and NPHS2 were performed in a Chinese child with CNS.
|
25729976 |
2015 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
|
17519780 |
2007 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 mutations were the most frequent cause of nephrotic syndrome among both families with congenital nephrotic syndrome (39.1%) and infantile nephrotic syndrome (35.3%), whereas NPHS1 mutations were solely found in patients with congenital onset.
|
17371932 |
2007 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed mutation analysis of NPHS1 in a worldwide cohort of 20 families (23 children) with CNS.
|
22584503 |
2012 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most commonly mutated gene in CNS patients was NPHS1 (46.3 %) versus NPHS2 (13.6 %) and WT1 (13.6 %) in INS patients.
|
25720465 |
2015 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is caused by mutations in a novel NPHS1 gene, which encodes for a cell adhesion protein, nephrin.
|
11730159 |
2001 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we performed mutation analysis of NPHS1 by exon sequencing in a worldwide cohort of 32 children with CNS from 29 different families.
|
18503012 |
2008 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset.
|
10839769 |
2000 |