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… (More)
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceDiffuse mesangial sclerosis (disorder)EdemaGrowth retardation
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Broader (1)

Nephrosis, congenital

Papers overview

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Highly Cited
2013
Highly Cited
2013
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
BACKGROUND AND OBJECTIVES Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a… (More)
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2010
2010
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients… (More)
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Highly Cited
2010
Highly Cited
2010
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
BACKGROUND AND OBJECTIVES Mutations in podocyte genes are associated with steroid-resistant nephrotic syndrome (SRNS), mostly… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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Highly Cited
1998
Highly Cited
1998
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive… (More)
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