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Finnish congenital nephrotic syndrome

Known as: NPHS1, Nephrotic Syndrome - NPHS1 Associated, NEPHROTIC SYNDROME, CONGENITAL 
Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three… 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceDiffuse mesangial sclerosis (disorder)EdemaGrowth retardation

Broader (1)

Nephrosis, congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2… 
Highly Cited
2004
Highly Cited
2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
BACKGROUND Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic… 
Review
2004
Review
2004
Signaling at the slit diaphragm.
Diseases of the glomerular filter of the kidney are a leading cause of end-stage renal failure. Recent studies have emphasized… 
Highly Cited
2003
Highly Cited
2003
Nephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling
ABSTRACT Mutations of NPHS1 or NPHS2, the genes encoding nephrin and podocin, as well as the targeted disruption of CD2… 
Highly Cited
2003
Highly Cited
2003
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
Hereditary nephrotic syndrome is a heterogeneous disease, characterized by heavy proteinuria and renal failure. Mutations of… 
Highly Cited
2002
Highly Cited
2002
Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin.
BACKGROUND Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) is caused by mutations in the NPHS1 gene. NPHS1 codes… 
Highly Cited
2002
Highly Cited
2002
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic… 
Highly Cited
2001
Highly Cited
2001
Interaction with Podocin Facilitates Nephrin Signaling*
Mutations of NPHS1 orNPHS2, the genes encoding for the glomerular podocyte proteins nephrin and podocin, cause steroid-resistant… 
Highly Cited
2000
Highly Cited
2000
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
BACKGROUND Congenital nephrotic syndrome (NPHS1) is a rare disease inherited as an autosomally recessive trait. The NPHS1 gene… 
Highly Cited
1999
Highly Cited
1999
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the… 
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