Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous missense mutation of L361P in exon 8 of NPHS2 was detected in one of 23 children with sporadic SRNS, whereas it was not found in 53 controls.
|
15769810 |
2005 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in the NPHS2 gene, which encodes podocin, recently have been shown to be strongly associated with a recessive form of steroid-resistant nephrotic syndrome.
|
14730545 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NPHS2, encoding podocin, are a prevalent cause of autosomal-recessive steroid-resistant nephrotic syndrome (SRNS).
|
15327385 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is now well recognized that podocin mutations are found in 10%-30% of sporadic cases of steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis.
|
15503167 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We generated podocin-deficient (Nphs2-/-) mice to investigate the function of podocin, a protein expressed at the insertion of the slit diaphragm in podocytes and defective in a subset of patients with steroid-resistant nephrotic syndrome and focal and segmental glomerulosclerosis.
|
14701729 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 mutation analysis was performed in 338 patients from 272 families with SRNS: 81 families with AR SRNS, 172 patients with sporadic SRNS, and 19 patients with diffuse mesangial sclerosis (DMS).
|
15253708 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, patients with SRNS due to NPHS2 mutations are not protected from recurrence of proteinuria after RTx.
|
15015071 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results demonstrate that there is also NPHS2 mutation in Chinese familial SRNS.
|
15322893 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding podocin, NPHS2, is mutated in patients with autosomal-recessive steroid-resistant nephrotic syndrome (SRN).
|
15496146 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.
|
15042551 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study is the first systematic investigation of NPHS2 gene mutations in Turkish children with familial SRNS.
|
15504144 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report, the cases of 3 siblings with steroid-resistant nephrotic syndrome who carry NPHS2 mutations (R238S and P118L) are presented.
|
15264208 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NPHS2, the gene encoding podocin, are associated with inherited and sporadic cases of steroid-resistant nephrotic syndrome.
|
14675423 |
2004 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We isolated genomic DNA from 36 Japanese children with chronic renal insufficiency caused by SRNS or heavy proteinuria, and analyzed all eight exons and exon-intron boundaries of NPHS2 using the polymerase chain reaction and direct sequencing.
|
12687458 |
2003 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Familial forms of focal segmental glomerulosclerosis (FSGS) are caused by mutations in genes at 1q25-31 (gene for steroid-resistant nephrotic syndrome 2 [NPHS2]), 11q21-22, 19q13 (gene for alpha-actinin 4 and NPHS1), and at additional unidentified chromosomal loci.
|
12776268 |
2003 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the NPHS2 gene are responsible for autosomal-recessive steroid-resistant nephrotic syndrome.
|
14633131 |
2003 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ten children with non-familial steroid-resistant nephrotic syndrome along with focal-segmental glomerulosclerosis were tested for mutations in the WT-1 and NPHS2 genes.
|
12608558 |
2003 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The levels of Podocin, the gene mutated in autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), and Nephrin, the gene mutated in congenital nephrotic syndrome of the Finnish type (NPHS1), are slightly reduced in kr(enu)/kr(enu) podocytes.
|
12217315 |
2002 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because NPHS2 mutations were found in nearly 30% of these patients with "sporadic" SRINS, mutational analysis should also be performed in these patients.
|
11805166 |
2002 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene NPHS2 that encode a protein named podocin have recently been found in a recessive form of SRNS.
|
11805168 |
2002 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In vitro permeability activity (P(alb)) was determined in sera of five patients with autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), an inherited condition indistinguishable from idiopathic FSGS on clinical grounds, but in which proteinuria is determined by homozygous mutations of podocin, a key component of the glomerular podocyte.
|
12089392 |
2002 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrate that podocin mutations in nonfamilial cases of steroid-resistant nephrotic syndrome are frequent and may be due in one case to a founder effect.
|
11729243 |
2001 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
|
10742096 |
2000 |