Associated Papers
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.
Dorison A et al.
Journal of the American Society of Nephrology : Jasn, 2023
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
25407002 (PubMed )
Supplement: ejhg2014252x1.doc
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
Nishibori Y et al.
Kidney International, 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Boute N et al.
Nephrologie, 2002
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N et al.
Nature Genetics, 2000
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