NPHS2 mutation analysis was performed in 338 patients from 272 families with SRNS: 81 families with AR SRNS, 172 patients with sporadic SRNS, and 19 patients with diffuse mesangial sclerosis (DMS).
Genetic mutations in the NPHS2 gene, which encodes podocin, recently have been shown to be strongly associated with a recessive form of steroid-resistant nephrotic syndrome.
It is now well recognized that podocin mutations are found in 10%-30% of sporadic cases of steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis.
A significant decrease of the p65 subunit protein of NF-kappaB but not in p50 was documented by both EMSA (N= 7) and Western blotting (N= 5) in five of five SRNS patients but not in control subjects or SSNS patients; there was a decrease in mRNA expression as shown by ELISA-linked RT-PCR.
A significant decrease of the p65 subunit protein of NF-kappaB but not in p50 was documented by both EMSA (N= 7) and Western blotting (N= 5) in five of five SRNS patients but not in control subjects or SSNS patients; there was a decrease in mRNA expression as shown by ELISA-linked RT-PCR.
A significant decrease of the p65 subunit protein of NF-kappaB but not in p50 was documented by both EMSA (N= 7) and Western blotting (N= 5) in five of five SRNS patients but not in control subjects or SSNS patients; there was a decrease in mRNA expression as shown by ELISA-linked RT-PCR.
The expression of the nuclear transcription factors activating protein-1 (AP-1) and nuclear factor-kappaB (NF-kappaB) as well as that of lymphokines interleukin (IL)-2, IL-4, and interferon-gamma (IFN-gamma) were compared in T cells obtained from normal subjects, children with steroid-sensitive nephrotic syndrome (SSNS) and children with steroid-resistant nephrotic syndrome (SRNS) before any treatment was given.
The expression of the nuclear transcription factors activating protein-1 (AP-1) and nuclear factor-kappaB (NF-kappaB) as well as that of lymphokines interleukin (IL)-2, IL-4, and interferon-gamma (IFN-gamma) were compared in T cells obtained from normal subjects, children with steroid-sensitive nephrotic syndrome (SSNS) and children with steroid-resistant nephrotic syndrome (SRNS) before any treatment was given.
A significant decrease of the p65 subunit protein of NF-kappaB but not in p50 was documented by both EMSA (N= 7) and Western blotting (N= 5) in five of five SRNS patients but not in control subjects or SSNS patients; there was a decrease in mRNA expression as shown by ELISA-linked RT-PCR.
A significant decrease of the p65 subunit protein of NF-kappaB but not in p50 was documented by both EMSA (N= 7) and Western blotting (N= 5) in five of five SRNS patients but not in control subjects or SSNS patients; there was a decrease in mRNA expression as shown by ELISA-linked RT-PCR.
A heterozygous missense mutation of L361P in exon 8 of NPHS2 was detected in one of 23 children with sporadic SRNS, whereas it was not found in 53 controls.
To address this question, we screened a worldwide cohort of 164 cases of sporadic SRNS for mutations in all 10 exons of the WT1 gene by multiplex capillary heteroduplex analysis and direct sequencing.