|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
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 |
|
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 |
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 |
In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene.
|
10652016 |
2000 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
CTD_human |
Cloning of rat nephrin: expression in developing glomeruli and in proteinuric states.
|
10792613 |
2000 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset.
|
10839769 |
2000 |
|
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 |
CTD_human |
The recently identified gene NPHS1 with its mutations causing congenital nephrotic syndrome of the Finnish type (CNF) is highly promising in providing new understanding of pathophysiology of proteinuria.
|
11012881 |
2000 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nephrin gene (NPHS1) lead to congenital nephrosis, suggesting that nephrin is essential for the glomerular filtration barrier.
|
11158218 |
2001 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is caused by mutations in a novel NPHS1 gene, which encodes for a cell adhesion protein, nephrin.
|
11730159 |
2001 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) is caused by mutations in the NPHS1 gene.
|
11884936 |
2002 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.
|
12047969 |
2002 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NPHS1, which encodes nephrin, recently has been identified as the gene in which mutations cause congenital nephrotic syndrome of the Finnish type (CNF).
|
12324903 |
2002 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study provides further evidence that loss of function of the nephrin gene is the main cause of congenital nephrotic syndrome of the Finnish type in Italian patients.
|
12495287 |
2003 |
|
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 |
Genetic mutations in NPHS1 gene, which encodes nephrin, have been found to cause congenital nephrotic syndrome.
|
14730545 |
2004 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nephrin gene (NPHS1) are responsible for congenital nephrotic syndrome of the Finnish type (NPHS1).
|
14764915 |
2004 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that congenital nephrotic syndrome may be secondary to mutations of one of these three genes and that some patients have a digenic inheritance of NPHS1 and NPHS2 mutations.
|
15503167 |
2004 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most patients with Finnish-type CNS in Europe and the United States have NPHS1 mutations.
|
15780077 |
2005 |