Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistantnephrotic syndrome

M Carraro, G Caridi, M Bruschi, M Artero… - Journal of the …, 2002 - journals.lww.com
A plasma factor displaying permeability activity in vitro and possibly determining proteinuria
has been hypothesized in idiopathic focal segmental glomerulosclerosis (FSGS). In vitro …

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

G Mollet, J Ratelade, O Boyer, AO Muda… - Journal of the …, 2009 - journals.lww.com
Podocin is a critical component of the glomerular slit diaphragm, and genetic mutations lead
to both familial and sporadic forms of steroid-resistant nephrotic syndrome. In mice …

[HTML][HTML] In situ evaluation of podocin in normal and glomerular diseases

I Horinouchi, H Nakazato, T Kawano, KI Iyama… - Kidney international, 2003 - Elsevier
In situ evaluation of podocin in normal and glomerular diseases. Background Mutations of
the NPHS2 gene are responsible for autosomal-recessive steroid-resistant nephrotic …

Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects

S Weber, B Tönshoff - Transplantation, 2005 - journals.lww.com
Focal segmental glomerulosclerosis (FSGS) is the primary renal disease in approximately
one-tenth of pediatric patients receiving a renal allograft. Recurrence of proteinuria after …

[HTML][HTML] In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

SY Zhang, A Marlier, O Gribouval, T Gilbert, L Heidet… - Kidney international, 2004 - Elsevier
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with
NPHS2 mutation. Background Mutations in NPHS2, encoding podocin, are a prevalent …

[HTML][HTML] New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis

F Vincenti, GM Ghiggeri - American Journal of Transplantation, 2005 - Elsevier
Recurrent focal glomerulosclerosis (FSGS) in renal al-lografts has remained a frustrating
and enigmatic dis-ease. Recent studies on gene mutations encoding podocin and other …

[HTML][HTML] Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

Y Nishibori, LI Liu, M Hosoyamada, H Endou, A Kudo… - Kidney international, 2004 - Elsevier
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the
plasma membrane. Background Podocin is a membrane-integrated protein that is located at …

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

K Tory, DK Menyhárd, S Woerner, F Nevo… - Nature …, 2014 - nature.com
Monogenic disorders result from defects in a single gene. According to Mendel's laws, these
disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive …

Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood

G Caridi, R Bertelli, F Scolari… - Kidney …, 2003 - kidney-international.org
To the Editor: Podocin is a key component of the podocyte slit diaphragm. Mutations of
podocin cause recessive steroid-resistant nephrotic syndrome that evolves to renal failure in …

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis

M Löwik, E Levtchenko, D Westra… - Nephrology dialysis …, 2008 - academic.oup.com
Background. Focal segmental glomerulosclerosis (FSGS) is a major cause of steroid-
resistant nephrotic syndrome in childhood with a central role for the podocytes in the …