|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of the human gene mutated in the congenital nephrotic syndrome of the Finnish type (NPHS1) has recently been reported, and its protein product has been termed nephrin.
|
10487848 |
1999 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total of 30 mutations have been reported in the nephrin gene in patients with congenital nephrotic syndrome worldwide.
|
11317351 |
2001 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most common NPHS1 gene mutations, Fin-major and Fin-minor, both lead to an absence of nephrin and podocyte slit diaphragms, as well as a clinically severe form of NPHS1, the Finnish type of congenital nephrotic syndrome.
|
10972661 |
2000 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type [CNF] is an autosomal recessive disorder leading to death in early childhood, if treated conservatively without early renal transplantation.
|
8693927 |
1996 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type.
|
18309348 |
2008 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Crb2 expression was not altered in the other patients with congenital nephrotic syndrome with NPHS1 mutations.
|
27942854 |
2017 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS.
|
26668027 |
2016 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
|
9915943 |
1999 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This gives additional support for the necessity for genetic examination of mutations in the NPHS1 gene in Chinese children with sporadic CNS.
|
22653594 |
2012 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
The human ortholog encodes a transmembrane protein containing five extracellular immunoglobulin-like domains that is structurally related to human NEPHRIN, a protein associated with congenital nephrotic syndrome.
|
11416156 |
2001 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to confirm that the NPHS1 gene is responsible for congenital nephrotic syndrome in our population, applying homozygosity mapping.
|
17413422 |
2007 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations.
|
20507940 |
2010 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacement, and loss of slit-diaphragm structure.
|
12704574 |
2003 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders.
|
30778115 |
2019 |
|
Focal glomerulosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
To better study its progression, a transgenic mouse model was developed by expressing murine alpha-actinin-4 containing a mutation analogous to that affecting a human FSGS family in a podocyte-specific manner using the murine nephrin promoter.
|
12707390 |
2003 |
|
Focal glomerulosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In line with this, experimental validation did not result in altered proteinuria or significant changes in expression of the FSGS-relevant genes COL1A1 and NPHS1.
|
30921378 |
2019 |
|
Focal glomerulosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We examined expression patterns of nephrin protein and messenger RNA (mRNA) in renal biopsy specimens from patients with minimal lesion (n = 7), focal segmental glomerulosclerosis (FSGS; n = 14), or membranous nephropathy (MN; n = 7) and controls (n = 8) by immunohistochemistry, immunoelectron microscopy, in situ hybridization, and polymerase chain reaction (PCR) amplification of nephrin complementary DNA.
|
12407641 |
2002 |
|
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
|
26147534 |
2015 |
|
Focal glomerulosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The finding of mutations in a patient with adult-onset focal segmental glomerulosclerosis indicates that NPHS1 analysis could be considered in patients with later onset of the disease.
|
19812541 |
2009 |
|
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We present a 12-year-old girl with rapidly progressive FSGS and end-stage renal disease in her native kidneys associated with heterozygous mutations in NPHS1 and in NPHS2, suffering from early post-transplant recurrence.
|
27312921 |
2016 |
|
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
|
26156092 |
2015 |
|
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No pathogenic NPHS1 or LAMB2 mutations were found in our FSGS cohort.
|
24856380 |
2014 |
|
Focal glomerulosclerosis
|
0.400 |
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 |
|
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial forms of focal segmental glomerulosclerosis (FSGS) are caused by mutations in genes at 1q25-31 (gene for steroid-resistant nephrotic syndrome 2 [NPHS2]), 11q21-22, 19q13 (gene for alpha-actinin 4 and NPHS1), and at additional unidentified chromosomal loci.
|
12776268 |
2003 |
|
Focal glomerulosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Regarding GKD subtypes, patients with focal segmental glomerulosclerosis (FSGS), but not patients with minimal change disease (MCD), had a significantly higher mRNA expression of B7-1 and NPHS1 than healthy subjects (P = 0.012 and P = 0.030, respectively).
|
21414970 |
2011 |