Congenital nephrotic syndrome type 01 (Finnish type)
Finnish congenital nephrosis is an autosomal recessive disease caused by mutations of the nephrin gene.
Systematic
References:
| 1. |
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. |
Aya K et al. (2000) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. [^] |
| 3. |
Beltcheva O et al. (2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. [^] |
| 4. |
Liu L et al. (2001) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. [^] |
| 5. |
Liu G et al. (2003) Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. [^] |
| 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 [^] |
