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zApoL1 is essential for proper blood filtration in the zebrafish glomerulus and that zApoL1 affects the expression of nephrin
Nephrin signal bordered the lateral membrane of podocytes, which were columnar in shape
Using two models, zebrafish and mice, that the absence of nephrin results in poorly developed muscles and incompletely fused myotubes, respectively.
Mutation analysis showed that each patient carried a compound heterozygous mutation of NPHS1 gene. Patient 1 carried IVS 24 + 5 G > A and c2663G > A (p.R888K) mutations (Figs. 1 and 2). Patient 2 carried IVS6-1G > C and c1760T > G (p.L587R) mutations (Figs. 3 and 4). Each mutation was inherited from paternal and maternal DNA respectively.
Angiotensin II has a role in increasing glomerular permeability by beta-arrestin mediated nephrin endocytosis
This prospective observational study compare urine nephrin:creatinine ratio (NCR, ng/mg) with serum soluble fms-like tyrosine kinase-1:placental growth factor ratio (FPR, pg/pg) for preeclampsia (PE) prediction among unselected asymptomatic pregnant women in 2(nd) trimester.
Outcomes of renal replacement therapy in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry
WHSC1L1-L acts as a histone methyltransferase in podocytes and regulates nephrin gene expression, which may in turn contribute to the integrity of the slit diaphragm of the glomerular filtration barrier.
Two novel putatively deleterious NPHS1 variants were identified in children with steroid-resistant nephrotic syndrome.
On genetic analysis of NPHS1 a paternally derived heterozygous frame-shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156-2163 delTGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified.
Case Reports: NPHS1 mutations in four Brazilian cases of congenital nephrotic syndrome.
The classical form is CNF, which is caused by mutations in the nephrin gene (NPHS1), leading to massive proteinuria, hypoproteinemia and edema in the newborn period
there is a link found of the glomerular protein nephrin and the antihypertensive action of angiotensin receptor antagonists in the treatment of hypertension.
A novel nonsense mutation in NPHS1 linking aortic stenosis associated with congenital nephropathy, is reported.
Activated IQGAP1, as an intracellular partner of nephrin, is involved in actin cytoskeleton organization and functional regulation of podocytes.
NPHS1 rs437168 variant is associated with nephrotic syndrome in children.
biochemical reconstitution on supported lipid bilayers of protein clusters containing the adhesion receptor Nephrin and its cytoplasmic partners, Nck and N-WASP, is reported.
Coding variants in NPHS1 are associated with both risk for and protection from common forms of nephropathy in African Americans.
Phosphorylation of nephrin is important for the survival status of podocytes.
No pathogenic NPHS1 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis.
Proteinuria in patients with seropositive rheumatoid arthritis is associated with increased levels of urine nephrin excretion, the highest levels of nephrin excretion were registered in patients with glomerulonephritis and amyloidosis.
the frequency of identified disease causing mutations (NPHS1 and NPHS2) in children with steroid-resistant nephrotic syndome is 11.4%, and they show no response to treatment.
The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros.
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.
nephrosis 1, congenital, Finnish type (nephrin)
, renal glomerulus-specific cell adhesion receptor
, nephrosis 1 homolog, nephrin
, nephrin 1