Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome.
|
15579507 |
2004 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1).
|
25557780 |
2015 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1.
|
12047969 |
2002 |
Finnish congenital nephrotic syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy.
|
10550324 |
1999 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
|
11317351 |
2001 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we correlated the NPHS1 gene mutations to the clinical features and renal findings in 46 Finnish NPHS1 children.
|
10972661 |
2000 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is a rare genetic disease caused by mutations in the NPHS1 gene encoding a major podocyte slit-diaphragm protein, nephrin.
|
16941028 |
2006 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS).
|
11854170 |
2002 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A subgroup of NTEC known as NTEC-2 produce a variant of CNF (CNF-2) whose gene is located on a plasmid known as Vir.
|
20060660 |
2010 |
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835).
|
9915943 |
1999 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
|
23595123 |
2013 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
|
28780565 |
2017 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
|
19812541 |
2009 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
|
22009864 |
2011 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss.
|
19423745 |
2009 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
|
23949594 |
2013 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.
|
25501161 |
2014 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
|
25407002 |
2015 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.
|
16518627 |
2006 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
|
24742477 |
2014 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.
|
9915943 |
1999 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
|
24902943 |
2014 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
|
25349199 |
2015 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.
|
10577936 |
1999 |