|
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 |
Biomarker
|
group |
HPO |
|
|
|
|
Nephrotic Syndrome
|
0.400 |
Biomarker
|
group |
MGD |
|
|
|
|
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 |
GeneticVariation
|
group |
LHGDN |
A missense mutation in the nephrin gene impairs membrane targeting.
|
12324903 |
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 |
LHGDN |
A familial childhood-onset relapsing nephrotic syndrome.
|
17290294 |
2007 |
|
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 |
Biomarker
|
group |
LHGDN |
Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
|
12495287 |
2003 |
|
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 |
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 |
CausalMutation
|
group |
CLINVAR |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.
|
25599733 |
2015 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and NS related to infections during pregnancy (virus, syphilis, toxoplasmosis).
|
15682315 |
2005 |
|
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |
|
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 |
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 |
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 |