Genetic forms of nephrotic syndrome

P Niaudet - Pediatric nephrology, 2004 - Springer
… It is now well recognized that podocin mutations are found in 10%–30% of sporadic cases …
nephrotic syndrome after renal transplantation in patients with podocin mutations is very low. …

[HTML][HTML] Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life

F Hildebrandt, SF Heeringa - Kidney international, 2009 - Elsevier
podocin (NPHS2), a truncation mutation in a compound heterozygous state with any other
podocin mutation, or the presence of two R138Q mutations… least one missense mutation (other …

[HTML][HTML] NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

G Caridi, F Perfumo, GM Ghiggeri - Pediatric research, 2005 - nature.com
… 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

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome

B Hinkes, C Vlangos, S Heeringa… - Journal of the …, 2008 - journals.lww.com
mutations, with sequence variants, and with no podocin changes could not be distinguished
… , nephrotic syndrome in children with truncating or homozygous R138Q mutations manifests …

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome

RG Ruf, A Lichtenberger, SM Karle… - Journal of the …, 2004 - journals.lww.com
podocin, different groups have demonstrated that mutations in the … In addition, mutations in
the NPHS2 gene were recently … Initial reports suggested that children with NPHS2 mutations

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

N Boute, O Gribouval, S Roselli, F Benessy, H Lee… - Nature …, 2000 - nature.com
… The clinical hallmark is nephrotic syndrome characterized by heavy proteinuria, edemas, …
such disorder is congenital nephrotic syndrome of the Finnish type (CNF), caused by mutations

Podocin and nephrotic syndrome: implications for the clinician

P Niaudet - Journal of the American Society of Nephrology, 2004 - journals.lww.com
… episode of nephrotic syndrome should be tested for podocin mutation before … mutations.
Considering that 85% of children with INS are steroid-responsive and that podocin mutations are …

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children

Y Frishberg, C Rinat, O Megged… - Journal of the …, 2002 - journals.lww.com
Podocin has been shown to be highly expressed in the fetal … pattern consistent with congenital
nephrotic syndrome. It remains … findings in children with mutated NPHS2 might include the …

[HTML][HTML] An inducible mouse model of podocin-mutation-related nephrotic syndrome

M Tabatabaeifar, T Wlodkowski, I Simic, H Denc… - PloS one, 2017 - journals.plos.org
… In conclusion, the inducible R140Q-podocin mouse model is an auspicious model of …
nephrotic syndrome, with a spontaneous disease course strongly reminiscent of the human disorder

Genotype–phenotype correlations in non-Finnish congenital nephrotic syndrome

E Machuca, G Benoit, F Nevo, MJ Tête… - Journal of the …, 2010 - journals.lww.com
… and podocin mutations in … podocin mutations compared with nephrin gene mutations.
Kaplan-Meier survival curve shows the proportion of patients who had NPHS1 or NPHS2 mutations