Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The NPHS2 gene, encoding the slit diaphragm protein podocin, accounts for genetic and sporadic forms of nephrotic syndrome (NS).
|
31368174 |
2019 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling.
|
30241959 |
2019 |
Nephrotic Syndrome
|
0.700 |
Biomarker
|
group |
BEFREE |
Mutations in the <i>NPHS1, NPHS2, LAMB2</i>, and the <i>WT1</i> genes are responsible for causing nephrotic syndrome (NS) in two third of the early onset cases.
|
30013592 |
2018 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The present study has been performed to screen single nucleotide polymorphisms (SNPs) of the NPHS2 gene in a group of 90 Indian children suffering with NS (30 SSNS, 30 SRNS and 30 Controls) by PCR method followed by direct exon sequencing.
|
28712774 |
2017 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The role of podocin variants in nephrotic syndrome may be more varied than previously thought.
|
27573339 |
2017 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In conclusion, the inducible R140Q-podocin mouse model is an auspicious model of the most common genetic cause of human nephrotic syndrome, with a spontaneous disease course strongly reminiscent of the human disorder.
|
29049388 |
2017 |
Nephrotic Syndrome
|
0.700 |
Biomarker
|
group |
BEFREE |
Intraprotein interactions were assessed in wild-type podocin and in some of its mutants that are associated with idiopathic NS.
|
27193387 |
2016 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
|
26420286 |
2015 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
|
25599733 |
2015 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
SRNS-causing mutations of NPHS2 and WT1 were detected in 7 of 33 patients (21%), including those with nephrotic syndrome manifesting before one year old: five of seven patients.
|
24856380 |
2014 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
This study was aimed at screening for known NPHS2 mutations in Indians with nephrotic syndrome.
|
24674236 |
2014 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We conclude that NPHS2 mutations should be investigated to help decide the course of treatment in nephrotic syndrome patients.
|
23913389 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
|
24072153 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
We found that the most common genetic cause of NS in our cohort was a homozygous mutation in the NPHS2 gene, found in 11 of the 49 families (22%).
|
23595123 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
|
23645318 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases.
|
23778422 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In a patient with nephrotic syndrome and podocin mutation, urinary and serum CD80 as well as suPAR were measured using commercially available kits.
|
24089165 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism.
|
23515051 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Gain-of-function mutations in the transient receptor potential (TRP) cation channel subfamily C member 6 (TRPC6) gene and mutations in the NPHS2 gene encoding podocin result in nephrotic syndromes.
|
23657570 |
2013 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Of the 38 Hungarian patients screened, seven carried NPHS2 mutations on both alleles, of whom two-diagnosed with proteinuria through school screening programs at the age of 9.7 and 14 years, respectively-did not develop nephrotic syndrome in childhood.
|
23242530 |
2013 |
Nephrotic Syndrome
|
0.700 |
Biomarker
|
group |
BEFREE |
Our results show a low prevalence of disease causing mutations in the NPHS1 (22% early onset, 5.5% overall) and NPHS2 (3.3% early onset and 3.4% overall) genes in the Pakistani NS children as compared to the European populations.
|
22565185 |
2012 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Foothold of NPHS2 mutations in primary nephrotic syndrome.
|
22120861 |
2012 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |
Nephrotic Syndrome
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation.
|
19495806 |
2009 |
Nephrotic Syndrome
|
0.700 |
Biomarker
|
group |
BEFREE |
A loss of podocin and a decrease in its resynthesis can influence the outcome of renal diseases with nephrotic syndrome, such as minimal change glomerulonephritis, focal segmental glomerulosclerosis (FSGS) and membranous nephropathy.
|
19562271 |
2009 |