|
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 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of the human gene mutated in the congenital nephrotic syndrome of the Finnish type (NPHS1) has recently been reported, and its protein product has been termed nephrin.
|
10487848 |
1999 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total of 30 mutations have been reported in the nephrin gene in patients with congenital nephrotic syndrome worldwide.
|
11317351 |
2001 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common NPHS1 gene mutations, Fin-major and Fin-minor, both lead to an absence of nephrin and podocyte slit diaphragms, as well as a clinically severe form of NPHS1, the Finnish type of congenital nephrotic syndrome.
|
10972661 |
2000 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type [CNF] is an autosomal recessive disorder leading to death in early childhood, if treated conservatively without early renal transplantation.
|
8693927 |
1996 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type.
|
18309348 |
2008 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Crb2 expression was not altered in the other patients with congenital nephrotic syndrome with NPHS1 mutations.
|
27942854 |
2017 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS.
|
26668027 |
2016 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
|
9915943 |
1999 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This gives additional support for the necessity for genetic examination of mutations in the NPHS1 gene in Chinese children with sporadic CNS.
|
22653594 |
2012 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human ortholog encodes a transmembrane protein containing five extracellular immunoglobulin-like domains that is structurally related to human NEPHRIN, a protein associated with congenital nephrotic syndrome.
|
11416156 |
2001 |