Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin.
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.
Haplotype analysis suggests a single mutation origin for V260E and it was associated with a decline in kidney function over a 60-month period (p = 0.026). The V260E variant is a good predictor of autosomal recessive SRNS in black South African children and could provide useful information in a clinical setting.
Study identified three different polymorphisms in the NPHS2 gene in 7 patients with focal segmental glomerulosclerosis but none was detected in the Iranian cohort with steroid-resistant nephrotic syndrome.
The NPHS2 variant has been previously reported as likely pathogenic (rs61747728) and associated with Nephrotic Syndrome was also found in Alport syndrome patients.
This is the first study investigating the nephrotic syndrome related to NPHS2 gene in Azerbaijani population. The high prevalence of uncertain significance variants emphasises the importance of population studies in this region as such data are necessary for classifications of the detected genetic variants
Results found that in addition to mutations in COL4A5 type IV collagen gene nephrin and podocin polymorphisms aggravated kidney damage leading to focal segmental glomerulosclerosis (FSGS) with ruptures of the basement membrane and early renal failure. This study suggests a synergistic role for genes encoding basement membrane and slit diaphragm proteins as a cause of kidney injury due to FSGS.
ULK-1 with EGFR can predict early impairment in DN while PDCN can highlight progressive diabetic nephropathy (DN) risk EGFR and PDCN may interact synergistically with ULK-1 in autophagy dysregulation as a pathogenic mechanism of DN induction and progression.
Pathogenic and likely pathogenic mutations in NPHS1 NPHS2 PLCE1 genes were identified by genetic testing of South Indian children with steroid resistant nephrotic syndrome.
Study show that a rare p.R229Q association can be considered pathogenic if the variant in trans affects the 270-351 residues and alters but does not disrupt the oligomerization its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis but is expected to be rare in the general population. More than 15% of the p.R229Q association identified in patients are benign. (review)
In this article we review the emerging knowledge about the NPHS2 gene and translate these findings from the bench to practical advice for the clinical bedside
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