A total of 179 children with sporadic nephrotic syndrome were screened for podocin
mutations: 120 with steroid resistance, and 59 with steroid dependence/frequent relapses …

Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-
resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype …

Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of
steroid-resistant nephrotic syndrome. As a result of a screening for these gene alterations in …

Idiopathic nephrotic syndrome (INS) is the most frequent glomerular disease in childhood.
Most of the children respond to corticosteroid therapy whereas 10% of them fail to respond …

Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and is
emerging as a leading cause of uremia. Molecular studies in families with recessive NS …

In situ evaluation of podocin in normal and glomerular diseases. Background Mutations of
the NPHS2 gene are responsible for autosomal-recessive steroid-resistant nephrotic …

In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the
recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a …

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 …

Mutations in the NPHS2 gene, encoding podocin, are responsible for familial autosomal
recessive and sporadic cases of steroid-resistant nephrotic syndrome. We have successfully …

Podocin is identified as a product of the gene mutated in a patient with autosomal recessive
steroid-resistant nephrotic syndrome. Although podocin is reported to be located at the slit …