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 …
has been hypothesized in idiopathic focal segmental glomerulosclerosis (FSGS). In vitro …
Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome
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 …
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 …
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 …
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
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with
NPHS2 mutation. Background Mutations in NPHS2, encoding podocin, are a prevalent …
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 …
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 …
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 …
disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive …
Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood
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 …
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 …
resistant nephrotic syndrome in childhood with a central role for the podocytes in the …