Nephrosis, congenital

Known as: Congenital nephrosis, Congenital nephrotic syndrome, familial nephrotic syndrome 
A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We… (More)
  • figure 1
Is this relevant?
Highly Cited
2004
Highly Cited
2004
NPHS1 encodes the structural protein nephrin, which has a crucial role in the filtration barrier of the glomerular podocyte… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2004
Review
2004
We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive… (More)
Is this relevant?
Highly Cited
2001
Highly Cited
2001
NPHS1 has recently been identified as the gene whose mutations cause congenital nephrotic syndrome of the Finnish type. The… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
CD2-associated protein (CD2AP) is an adapter molecule that can bind to the cytoplasmic domain of nephrin, a component of the… (More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
We describe here the size and location of nephrin, the first protein to be identified at the glomerular podocyte slit diaphragm… (More)
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1993
Highly Cited
1993
THE Pax genes comprise a family of transcription factors active in specific tissues during embryonic development and are… (More)
Is this relevant?