نتایج جستجو برای: nphs2
تعداد نتایج: 351 فیلتر نتایج به سال:
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 to this treatment. They are at risk of extrarenal complications of the nephrotic syndrome and may develop end-stage renal disease, which occurs in up to 50% of white children after a follow-up of 5 yr and 80% of Afri...
podocin facilitates nephrin signaling. J Biol Chem 276: 41543–41546, 2001 7. Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T: Molecular basis of the functional podocin-nephrin complex: Mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12: 3397–3405, 2003 8. Huber TB, Schermer B, Muller RU, Hohne M, Ba...
BACKGROUND AND OBJECTIVES The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and the uncharacterized relative frequency of mutations in these genes in pediatric and adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile the clinical and genetic data of eight podocyte genes a...
The earliest descriptions of a genetic basis for the nephrotic syndrome concerned clinical phenotypes of relatively limited variability apparently as a result of classical Mendelian disorders with monogenic inheritance. Paradigmatic was the description by Tryggvason and his colleagues1 of the genetic basis of the Finnish type of congenital nephrotic syndrome (CNS) caused by autosomal recessive ...
BACKGROUND Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCepsilon1) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported. METHOD In order to better assess the spectrum o...
Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to immunosuppressive agents and 20 SRNS controls...
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