|
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 Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset.
|
10839769 |
2000 |
|
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 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is a genetic disease caused by mutations in a podocyte protein nephrin, which leads to constant heavy proteinuria from birth.
|
15954901 |
2005 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome.
|
16703378 |
2006 |
|
Nephrosis, congenital
|
0.500 |
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 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses.
|
19153070 |
2009 |
|
Nephrosis, congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessive disease caused by mutations in a major podocyte protein, nephrin.
|
20020158 |
2010 |
|
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 |
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 |
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 |
An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations.
|
30215773 |
2019 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome.
|
18614772 |
2008 |
|
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 |
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 |
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 |
Furthermore, we conducted functional analysis of NPHS1 mutations in Japanese patients with congenital nephrotic syndrome using this simple method, which revealed that all pathogenic mutations impaired trafficking to the protein plasma membrane.
|
24142548 |
2014 |
|
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 |
Here, we performed mutation analysis of NPHS1 by exon sequencing in a worldwide cohort of 32 children with CNS from 29 different families.
|
18503012 |
2008 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, 3D organoid glomeruli from a congenital nephrotic syndrome patient with compound heterozygous NPHS1 mutations reveal reduced protein levels of both NEPHRIN and PODOCIN.
|
30514835 |
2018 |
|
Nephrosis, congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, mutational analyses of NPHS1 and NPHS2 were performed in a Chinese child with CNS.
|
25729976 |
2015 |
|
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 |