… The initial studies on podocin mutations in sporadic NS ( 11,… of the actual impact of podocin
mutations on sporadic NS … results of a screening for podocin mutations in a sufficiently vast …

… in association with other mutants NPHS2 allele or acting in synergism … podocin mutants
have shown that defects in cell sorting process predominate over structural alterations of podocin…

… of the spectrum), with the exception of WT1 mutations, which … podocin mutation, or the presence
of two R138Q mutations, … presence of at least one missense mutation (other than R138Q) …

… that minimal change disease and FSGS are different points on the same disease spectrum.
In the study, patients with the same genetic defect exhibited a range of pathologies from …

… We observe that identical mutations lead to onset of SRNS within a range of several years
and speculate that additional factors modify the NPHS2 phenotype. These findings will be …

Mutations in the NPHS2 gene, encoding podocin, are responsible for familial autosomal
recessive and sporadic cases of steroid-resistant nephrotic syndrome. We have successfully …

… , we observed a stable reduction of proteinuria below the nephrotic range. In the remaining
population of podocin mutation carriers, the mean age at which end-stage renal failure …

… spectrum of … a disease allele, then recessive NPHS2 mutations also are rare in this study
as well. Our findings in patient TOR2679, who had compound heterozygous NPHS2 mutations …

… We screened 19 families with early-onset SRNS for mutations in NPHS2 and WT1 and
identified four disease-causing mutations (three in NPHS2 and one in WT1) prior to planned …

… with homozygous or compound heterozygous mutations in NPHS2 was 3.4 yr (range, 0.3 to
24.0 yr), compared with 5.0 yr (range, 0.0 to 19.0) for the patients without mutations. Data on …