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 |
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome).
|
18462046 |
2008 |
Focal glomerulosclerosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Direct effect of plasma permeability factors from patients with idiopatic FSGS on nephrin and podocin expression in human podocytes.
|
15942677 |
2005 |
Focal glomerulosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thirty-two genetic mutations of NPHS1 gene were identified in FSGS patients, including 12 synonymous mutations, 17 missense mutations, 1 splicing mutation, and 2 intron mutations, of which c.G3315A (p.S1105S) was the most common variant (261/309).
|
31216994 |
2019 |