|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since the identification of the NPHS2 gene, various investigators have demonstrated that its mutation is an important cause of steroid-resistant nephrotic syndrome.
|
19395786 |
2009 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS2 gene encoding the protein podocin have recently been found in a recessive form of steroid-resistant nephrotic syndrome.
|
16874699 |
2006 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
|
24509478 |
2014 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 analysis has a clinical value in both childhood- and adult-onset SRNS patients.
|
20947785 |
2011 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As such, the aim of this study was to screen for podocin mutations in Turkish patients with SRNS.
|
16810518 |
2006 |
|
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 |
Biomarker
|
disease |
BEFREE |
Podocin is a key protein involved in the pathogenesis of steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis (FSGS) and is characterized by a high rate of early recurrence after renal transplantation (RTx) in children and adults.
|
23982418 |
2013 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%).
|
24519673 |
2014 |
|
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 |
This study aimed to screen for podocin mutations in SRNS Egyptian children and their parents.
|
28385484 |
2018 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome.
|
22080622 |
2012 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS2 gene are a major cause of steroid-resistant nephrotic syndrome, a severe human kidney disorder.
|
24596097 |
2014 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
|
24715228 |
2014 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of NPHS2 and WT1 was carried out in a single-center cohort of 20 children with FRNS/SDNS, ten children with uncomplicated SSNS (control), and 22 children with SRNS (control).
|
17216259 |
2007 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome.
|
21499232 |
2011 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, podocin mutations do not appear to be a major cause of SRNS in Greek children, although the study cohort was small.
|
19371226 |
2009 |
|
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 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
|
27885584 |
2017 |
|
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 |
Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.
|
23242530 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Mutations in NPHS2, which encodes for podocin, an integral membrane protein of the glomerular epithelial cells (podocytes), represent a frequent cause of steroid-resistant nephrotic syndrome worldwide.
|
24674236 |
2014 |
|
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome.
|
23913389 |
2013 |
|
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 |