Finnish congenital nephrosis is an autosomal recessive disease caused by mutations of the nephrin gene.
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Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. |
2. |
Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. |
3. |
Aya K et al. (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. |
4. |
Beltcheva O et al. (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. |
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Liu L et al. (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. |
6. |
Wartiovaara J et al. (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. |
7. |
Jones N et al. (2006) Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. |
8. |
Lenkkeri U et al. (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. |
9. |
OMIM.ORG article Omim 256300 |