Recombinant Human Nephrin (NPHS1), partial

1. 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. PMID: 28160156
2. Angiotensin II has a role in increasing glomerular permeability by beta-arrestin mediated nephrin endocytosis PMID: 28004760
3. 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. PMID: 27874074
4. Outcomes of renal replacement therapy in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry PMID: 27761660
5. 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. PMID: 28228401
6. Two novel putatively deleterious NPHS1 variants were identified in children with steroid-resistant nephrotic syndrome. PMID: 28476686
7. 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. PMID: 27882743
8. Case Reports: NPHS1 mutations in four Brazilian cases of congenital nephrotic syndrome. PMID: 26560236
9. 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 PMID: 25711261
10. there is a link found of the glomerular protein nephrin and the antihypertensive action of angiotensin receptor antagonists in the treatment of hypertension. PMID: 25622599
11. A novel nonsense mutation in NPHS1 linking aortic stenosis associated with congenital nephropathy, is reported. PMID: 26174680
12. Activated IQGAP1, as an intracellular partner of nephrin, is involved in actin cytoskeleton organization and functional regulation of podocytes. PMID: 25652011
13. NPHS1 rs437168 variant is associated with nephrotic syndrome in children. PMID: 25599733
14. Coding variants in NPHS1 are associated with both risk for and protection from common forms of nephropathy in African Americans. PMID: 24948143
15. Phosphorylation of nephrin is important for the survival status of podocytes. PMID: 24515388
16. No pathogenic NPHS1 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis. PMID: 24856380
17. 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. PMID: 24848282
18. 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. PMID: 24413855
19. The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros. PMID: 24337247
20. An Iranian boy with Finnish-type congenital nephrotic syndrome was homozygous for a 1 bp duplication near the splice acceptor site of exon 17 of the NPHS1 gene (intron 16: c.2213-2dupA homozygous mutation). His parents were heterozygous. PMID: 24089175
21. Congenital nephrotic syndrome associated mutations in the NPHS1 gene in two Greek patients. PMID: 24371179
22. In diabetic glomerulosclerosis, glomeruli with crescents contained a mixture of crescentic cells expressing either claudin 1 or nephrin. Rare crescentic cells coexpressed nephrin and claudin 1. PMID: 24529330
23. Mutations in NPHS1 gene occur in Iranian children with steroid sensitive nephrotic syndrome and steroid resistant nephrotic syndrome. PMID: 24498843
24. summarize the current knowledge of the functions of nephrin and Neph-family proteins and transcription factors and agents that control nephrin and Neph3 gene expression. PMID: 24219158
25. The planar cell polarity pathway contributes to podocyte development by regulating nephrin turnover during junctional remodeling as the cells differentiate. PMID: 23824190
26. Nck may facilitate dynamic signaling events at the slit diaphragm by promoting Fyn-dependent phosphorylation of nephrin. PMID: 23188823
27. we discovered 10 different mutations, 3 of them novel, consisting of 1 splice site mutation (IVS 7 + 1 G 1 T) and 2 missense mutations (p.Y977C and p.L215R). PMID: 22584503
28. In the glomeruli of CNS patients carrying mutations in NPHS1, where SD formation is disrupted, the expression of SIRPalpha as well as Neph1 and nephrin was significantly decreased, indicating that SIRPalpha is closely associated with the nephrin complex PMID: 22747997
29. Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells. PMID: 22718751
30. A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. PMID: 22565185
31. Finding lesuggest that NPHS1 mutations are also present in sporadic Chinese CNS cases. PMID: 22653594
32. finding that nephrinuria is observed in a majority of these normoalbuminuric patients demonstrates that it may precede microalbuminuria PMID: 22615747
33. Nephrin ligation resulted in abnormal morphology of actin tails in human podocytes when Ship2, Filamin or Lamellipodin were individually knocked down. PMID: 22194892
34. The expression of nephrin in different clinical types of hepatitis B virus-associated membranous nephropathy was significantly different. Expression in patients with nephrotic syndrome was significantly lower than in patients without nephrotic syndrome. PMID: 22176966
35. Two novel mutations of c.2783C>A and c.2225T>C in NPHS1 were found to be causative in this Chinese CNF family with no known Finnish ancestry PMID: 22009864
36. 1,25(OH)(2)D(3) stimulates nephrin expression in podocytes by acting on a VDRE in the proximal nephrin promoter. PMID: 21803771
37. Data show that the main slit diaphragm proteins, nephrin and podocin, are affected from the earlier stages of lupus nephritis and their expression correlates with disease histology. PMID: 21478284
38. Podocyte-specific protein nephrin gene expression is decreased in women with preeclampsia. PMID: 19528353
39. PKC alpha mediates beta-arrestin2-dependent nephrin endocytosis in hyperglycemia. PMID: 21321125
40. PKCalpha is involved in reduction of nephrin surface expression; activation of PKCalpha is a pathomechanistic key event during the development of diabetic nephropathy PMID: 20419132
41. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS1. PMID: 21125408
42. NPHS1 mutations are associated with congenital nephrotic syndrome. PMID: 20172850
43. podocyte protein kidney anion exchanger 1 interacts with nephrin and kinase to maintain the structure and function of the glomerular basement membrane. PMID: 20576809
44. Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L). PMID: 20457601
45. The presence of the different genotypes of NPHS1 (AA genotype of rs401824 and GG genotype of rs437168) was associated with susceptibility to membranous glomerulonephritis and with remission of proteinuria during disease progression after therapy. PMID: 20138859
46. NPHS1 mutations associated with an earlier onset of congenital nephrotic syndrome and worse renal outcomes than NPHS2 mutations. PMID: 20507940
47. By means of gel supershift and chromatin immunoprecipitation assays we have shown that the protein factor from podocyte nuclear extracts able to recognize and bind the target sequence is the Sp1 zinc-finger protein. PMID: 19816048
48. Nephrin is an active component of insulin vesicle machinery that may affect its vesicle-actin interaction and mobilization to the plasma membrane. PMID: 19833886
49. evaluated the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino-acid residue in orthologs, and defined domains PMID: 19812541
50. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site. PMID: 19746264

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HGNC: 7908

OMIM: 256300

KEGG: hsa:4868

STRING: 9606.ENSP00000368190

UniGene: Hs.122186