|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We generated two models for congenital NS, a morpholino injected model targeting nphs1 (nephrin), which is mutated in the Finnish-type congenital NS.
|
28759637 |
2017 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To determine the frequency of inherited NS, 62 cases (representing 49 families with NS) from Saudi Arabia were screened for mutations in NPHS1, NPHS2, LAMB2, PLCE1, CD2AP, MYO1E, WT1, PTPRO and Nei endonuclease VIII-like 1 (NEIL1).
|
23595123 |
2013 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
The results demonstrate that NPHS1 and NPHS2 mutations are also present in Chinese sporadic NS patients, suggesting that genetic changes of nephrin and podocin may play pathogenetic roles in some patients with sporadic steroid resistant NS.
|
17211152 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant NS, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel.
|
30171708 |
2018 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
The NPHS1 kidneys do not express nephrin, and antibodies against this major glomerular filter protein have been observed in NPHS1 children with recurrent NS.
|
17519780 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.
|
16518627 |
2006 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Patients with nephrotic syndrome and WT1 or NPHS1 mutations with neonatal onset (within 30 days) were eligible.
|
30963316 |
2019 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
|
25599733 |
2015 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
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 |
|
Nephrotic Syndrome
|
0.400 |
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
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients.
|
17211152 |
2007 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients.
|
22565185 |
2012 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier.
|
25557780 |
2015 |
|
Nephrotic Syndrome
|
0.400 |
Therapeutic
|
group |
RGD |
Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies.
|
15942045 |
2005 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
LHGDN |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.
|
16968734 |
2006 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fifteen episodes of recurrent nephrotic syndrome occurred in 13 (25%) of 51 grafts transplanted to 45 Finnish children with NPHS1.
|
11884936 |
2002 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome.
|
12961083 |
2003 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
LHGDN |
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
|
12495287 |
2003 |
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth.
|
9660941 |
1998 |
|
Nephrotic Syndrome
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |