Recombinant Human Podocin (NPHS2), partial

1. In conclusion, the authors identified SNX9 as a facilitator of podocin endocytosis in severe podocyte injury and demonstrated the expression of SNX9 in the podocytes of both nephropathy model mice and human patients with irreversible glomerular disease. PMID: 28266622
2. Mutations of NPHS2 gene are common among Egyptian children with Steroid-resistant nephrotic syndrome. PMID: 28385484
3. C-terminal oligomerization of podocin can mediate both a dominant negative effect and interallelic complementation. Interallelic interactions of NPHS2 are not restricted to the R229Q variant and have to be considered in compound heterozygous individuals. PMID: 29660491
4. Heterozygous deletion in the NPHS2 gene involved in familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. PMID: 27573339
5. polymorphisms predicted in this study might be disease causing in the NPHS2 gene and may have influence on the therapeutic response of nephrotic syndrome patients PMID: 28712774
6. Mutations in podocin alter the innate intraprotein interactions affecting the native structure of podocin and its ability to form critical complex with subpodocyte proteins PMID: 27193387
7. NPHS2 mutations/SNPs serve as important molecular markers in treating children with early stage idiopathic nephrotic syndrome. PMID: 26820844
8. Two siblings with CRB2 -related syndrome were both heterozygous for a variant in NPHS2. PMID: 27004616
9. This study shows that p.R229Q and p.A284V are the most frequent variants in Chilean children with steroid resistant nephrotic syndrome; it is the first time that this relationship has been reported in Chilean children PMID: 26455708
10. Ubiquitin ligase Ubr4 is a key component of the podocin interactome purified from podocytes. Ubiquitylation of one podocin site, K301, do not only target podocin for proteasomal degradation, but may also affect stability and disassembly of the multimeric complex. PMID: 26792178
11. Oligoallelic amino acid mutations in podocin may be potential causative mutations for proteinuria (meta-analysis) PMID: 26211502
12. The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations PMID: 26138234
13. translocation of podocin by endocytosis could be a key traffic event of critical podocyte injury and that the podocin gap could indicate the prognosis of IgA nephropathy. PMID: 25676004
14. NPHS2 mutations account for only 15% of nephrotic syndrome cases. PMID: 26420286
15. NPHS2 rs61747728 variant is not associated with nephrotic syndrome in children. PMID: 25599733
16. A single gene is involved in the development of steroid-resistant nephrotic syndrome. PMID: 25349199
17. NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants PMID: 25112471
18. for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome; the p.R229Q allele cannot currently be considered a risk factor for predicting focal segmental glomerulosclerosis. PMID: 24715228
19. Thus, NPHS2 gene showed R229Q polymorphism and patients achieved partial remission to therapy. PMID: 24519673
20. Variants in NPHS2, SDCCAG8 and near BMP4 appear to interact with APOL1 to modulate the risk for non-diabetic end stage kidney disease in african americans. PMID: 24157943
21. NPHS2 mutations are prevalent in Indian patients with , Idiopathic, steroid-resistant Nephrotic syndrome and this may in part explain the less favourable prognosis reported in these patients. PMID: 24674236
22. Four patients had homozygous c.413G>A (p.Arg138Gln) NPHS2 mutations; one subject was homozygous for c.868G>A (p.Val290Met) NPHS2. PMID: 24856380
23. Case Report: novel NPHS2 sequence variant in a girl with steroid-resistant nephrotic syndrome and focal and segmental glomerulosclerosis. PMID: 24969201
24. 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
25. The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros. PMID: 24337247
26. 25 novel pathogenic mutations have been identified in steroid-resistant nephrotic syndrome. They includes missense, nonsense, small insertions, small deletions, splicing, indel mutations, and a mutation in the stop codon. PMID: 24227627
27. Mutations of podocin were frequent among south-west Iranian pediatric population with steroid-resistant nephrotic syndrome. PMID: 24072147
28. the carboxyl terminus of podocin/MEC-2 has to be placed at the inner leaflet of the plasma membrane to mediate cholesterol binding and contribute to ion channel activity. PMID: 24596097
29. The NPHS2 gene p.R229Q polymorphism does not present in an Iranian-Azeri population with late-onset steroid-resistance nephrotic syndrome. PMID: 24072153
30. present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated 3' mutation PMID: 24509478
31. Focal segmental glomerulosclerosis patients with NPHS2 homozygous p.R229Q should be screened for the causative mutation in a second gene. PMID: 23800802
32. The podocin mutation R229Q may play a role in the pathogenesis of focal segmental glomerulosclerosis and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention. PMID: 23982418
33. study identified NPHS2 mutations in Mexican children with nephrotic syndrome; Podocin heterozygous missense mutations L139R and L142P were found; the former was found in steroid-sensitive and steroid-resistant children; the latter was found in a steroid-resistant child PMID: 23913389
34. analysis of NPHS2 mutations in Polish patients with steroid-resistant nephrotic syndrome reveals a founder effect PMID: 23645318
35. A second short isoform of podocin was found to be expressed in the kidney. PMID: 23648087
36. an Iranian family of familial steroid-resistant nephrotic syndrome with 3 affected children was reported in which NPHS2 gene has been detected; in exon 4 of the NPHS2 gene, c.503G>A X R168H homozygous mutation was found; both parents of index case were heterozygous carrier with the same mutation compatible with recessive inheritance PMID: 23013956
37. Suggest screening for NPHS2 p.R229Q/p.V290M mutations in Central and Eastern European patients with late-onset steroid-resistant nephrotic syndrome. PMID: 23242530
38. A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. PMID: 22565185
39. We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome. Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon. PMID: 22080622
40. NPHS2 mutations are rare in patients with adult onset of FSGS/MCD. The R229Q polymorphism is frequent in the Czech population and probably could have some influence on IGAN PMID: 22578956
41. NPHS2 polymorphisms were identified in northern Chinese IgA nephropathy patients. The frequencies of NPHS2 T allele and TT/CT genotype were the protective factors for urinary protein. PMID: 22321327
42. in patients with familial hematuria, NPHS2-R229Q predisposes to proteinuria and end-stage kidney disease PMID: 22228437
43. NPHS2 mutations account for a significant proportion of all nephrotic patients, roughly corresponding to a mutation detection rate of 45-55% in families with recessive traits and 8-20% of sporadic cases. PMID: 22120861
44. we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes, and reveal singular extrarenal podocin expression in human and murine testis PMID: 21499232
45. 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
46. The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy. PMID: 21655212
47. NPHS2 mutation analysis has a clinical value in both childhood- and adult-onset steroid-resistant nephrotic syndrome patients. PMID: 20947785
48. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS2. PMID: 21125408
49. plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation. A combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed PMID: 21171529
50. NPHS2 mutations are not a major cause of familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group. PMID: 19099831

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HGNC: 13394

OMIM: 600995

KEGG: hsa:7827

STRING: 9606.ENSP00000356587

UniGene: Hs.412710