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. …
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 …
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…
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 …
… , 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 …
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 …
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 …
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 …
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…
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 …
Kaplan-Meier survival curve shows the proportion of patients who had NPHS1 or NPHS2 mutations …
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