|
Septicemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
These two DNA probes should greatly facilitate epidemiological studies to assess the importance of CNF-producing strains as agents of diarrhoea and septicaemia.
|
8006936 |
1994 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Metformin treatment of T2DM rats produced dose-dependent significant reductions in urinary albumin and nephrin concentrations, glomerular basement membrane thickness (GBMT), and the foot process fusion rate (FPFR) compared with control T2DM model rats, whereas renal expression of nephrin protein and Nphs1 mRNA was dose-dependently increased by metformin treatment.
|
27248136 |
2017 |
|
Urinary tract infection
|
0.020 |
Biomarker
|
group |
BEFREE |
While further examination of CNF-1 may reveal a role in UTI pathogenesis, our data casts doubt on the role of CNF-1 in the pathogenesis of UPEC UTI.
|
28545489 |
2017 |
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
0.020 |
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 |
|
Nephrosis
|
0.020 |
Biomarker
|
disease |
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 |
|
Ichthyosis linearis circumflexa
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients.
|
22565185 |
2012 |
|
Nuclear non-senile cataract
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients.
|
22565185 |
2012 |
|
Diabetes
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.
|
19746264 |
2009 |
|
Diabetes Mellitus
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.
|
19746264 |
2009 |
|
Diabetes
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controls.
|
18449463 |
2007 |
|
Diabetes Mellitus
|
0.020 |
GeneticVariation
|
group |
BEFREE |
We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controls.
|
18449463 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controls.
|
18449463 |
2007 |
|
Ichthyosis linearis circumflexa
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients.
|
17211152 |
2007 |
|
Nuclear non-senile cataract
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutational analyses of NPHS1 and NPHS2 were performed to verify this hypothesis in sporadic nephrotic syndrome (NS) patients.
|
17211152 |
2007 |
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
0.020 |
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 |
|
Nephrosis
|
0.020 |
Biomarker
|
disease |
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 |
|
Urinary tract infection
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Strains from prostatitis patients were significantly more likely to express hemolysin than were strains causing complicated UTI (73% vs. 43%; P = .02) and more often demonstrated hybridization with the cytotoxic necrotizing factor-1 (CNF-1) probe (63%) than did strains from women (44%-48%).
|
9237713 |
1997 |
|
Chronic kidney disease stage 5
|
0.040 |
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 |
|
Chronic kidney disease stage 5
|
0.040 |
Biomarker
|
disease |
BEFREE |
Genotyping for TRPC6, ACTN4, CD2AP, WT1, INF2, NPHS2 and NPHS1 was performed in all patients with primary FSGS and ESRD registered on the waiting list for kidney transplantation of a large German transplant center (n = 26 out of 478 registered patients).
|
22732337 |
2012 |
|
Chronic kidney disease stage 5
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NPHS1, NPHS2, or WT1 may be responsible for severe forms of nephrotic syndrome in children, progressing to end-stage renal failure.
|
15503167 |
2004 |
|
Chronic kidney disease stage 5
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NPHS1 or NPHS2, the genes encoding for nephrin and podocin, lead to early onset of heavy proteinuria, and rapid progression to end-stage renal disease, suggesting that both proteins are essential for the integrity of the glomerular filter.
|
14570703 |
2003 |
|
Diabetic Nephropathy
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.
|
19746264 |
2009 |
|
Diabetic Nephropathy
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients.
|
18449463 |
2007 |
|
Diabetic Nephropathy
|
0.050 |
AlteredExpression
|
disease |
LHGDN |
Expression of human nephrin mRNA in diabetic nephropathy.
|
14736962 |
2004 |
|
Diabetic Nephropathy
|
0.050 |
Biomarker
|
disease |
LHGDN |
This study does not support an involvement of the coding region of the nephrin gene in the pathogenesis of diabetic nephropathy in type 1 diabetic patients.
|
12631336 |
2003 |