NPHS2

Summary

Gene Symbol: NPHS2
Description: NPHS2, podocin
Alias: PDCN, SRN1, podocin, nephrosis 2, idiopathic, steroid-resistant (podocin)
Species: human
Products:     NPHS2

Top Publications

  1. Huber T, Kottgen M, Schilling B, Walz G, Benzing T. Interaction with podocin facilitates nephrin signaling. J Biol Chem. 2001;276:41543-6 pubmed
    Mutations of NPHS1 or NPHS2, the genes encoding for the glomerular podocyte proteins nephrin and podocin, cause steroid-resistant proteinuria...
  2. Tsukaguchi H, Sudhakar A, Le T, Nguyen T, Yao J, Schwimmer J, et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest. 2002;110:1659-66 pubmed
    Mutations in NPHS2, encoding podocin, have been identified in childhood onset focal and segmental glomerulosclerosis (FSGS). The role of NPHS2 in adult disease is less well defined...
  3. Huber T, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet. 2003;12:3397-405 pubmed
    ..Mutations of NPHS1 or NPHS2, the genes encoding for nephrin and podocin, lead to early onset of heavy proteinuria, and rapid progression to end-stage renal disease, suggesting that both ..
  4. Anbazhagan K, Sampathkumar K, Ramakrishnan M, Gomathi P, Gomathi S, Selvam G. Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients. Clin Chim Acta. 2009;406:108-12 pubmed publisher
    ..Similarly, other genes such as Nephrin (NPHS1) and Podocin (NPHS2) contribute to the loss of renal function during renal diseases...
  5. Kerti A, Csohány R, Szabo A, Arkossy O, Sallay P, Moriniere V, et al. NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2013;28:751-7 pubmed publisher
    The most frequently mutated gene of steroid-resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.
  6. Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al Sabban E, et al. Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 2009;75:727-35 pubmed publisher
    Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-resistant nephrotic syndrome (NS) presenting in childhood...
  7. McKenzie L, Hendrickson S, Briggs W, Dart R, Korbet S, Mokrzycki M, et al. NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol. 2007;18:2987-95 pubmed
    Mutations in NPHS2, the gene that encodes podocin, are well-established causes of both familial and sporadic steroid-resistant focal segmental glomerulosclerosis (FSGS) in the pediatric population, but have not been well-characterized in ..
  8. Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, et al. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol. 2007;22:509-13 pubmed
    ..Mutations in NPHS2 account for more than 28% of all cases of steroid-resistant nephrotic syndrome (SRNS) and dominant mutations in ..
  9. Dusel J, Burdon K, Hicks P, Hawkins G, Bowden D, Freedman B. Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney Int. 2005;68:256-62 pubmed
    b>Podocin, encoded by NPHS2 and mapped to 1q25.2, is an integral membrane protein exclusively expressed in glomerular podocytes...

More Information

Publications98

  1. Coward R, Foster R, Patton D, Ni L, Lennon R, Bates D, et al. Nephrotic plasma alters slit diaphragm-dependent signaling and translocates nephrin, Podocin, and CD2 associated protein in cultured human podocytes. J Am Soc Nephrol. 2005;16:629-37 pubmed
    ..the filtration barrier of the glomerulus and are dependent on the slit diaphragm (SD) proteins nephrin, podocin, and CD2-associated protein (CD2AP) to function optimally...
  2. Nishibori Y, Liu L, Hosoyamada M, Endou H, Kudo A, Takenaka H, et al. Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney Int. 2004;66:1755-65 pubmed
    b>Podocin is a membrane-integrated protein that is located at the glomerular slit diaphragm and directly interacts with nephrin...
  3. Saleem M, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, et al. Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation. Am J Pathol. 2002;161:1459-66 pubmed
    The discovery of the genes for nephrin and podocin, which are mutated in two types of congenital nephrotic syndrome, was pivotal in establishing the podocyte as the central component of the glomerular filtration barrier...
  4. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 2000;24:349-54 pubmed
    ..expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family...
  5. Caridi G, Gigante M, Ravani P, Trivelli A, Barbano G, Scolari F, et al. Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clin J Am Soc Nephrol. 2009;4:1065-72 pubmed publisher
    Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children...
  6. Schwarz K, Simons M, Reiser J, Saleem M, Faul C, Kriz W, et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest. 2001;108:1621-9 pubmed
    ..Its product, podocin, is a new member of the stomatin family, which consists of hairpin-like integral membrane proteins with ..
  7. Santin S, Tazon Vega B, Silva I, Cobo M, Giménez I, Ruiz P, et al. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6:344-54 pubmed publisher
    To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation...
  8. Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attie T, et al. Podocin localizes in the kidney to the slit diaphragm area. Am J Pathol. 2002;160:131-9 pubmed
    ..This gene encodes a novel podocyte protein, podocin. Given its similarity with the stomatin family proteins, podocin is predicted to be an integral membrane protein ..
  9. Weber S, Gribouval O, Esquivel E, Moriniere V, Tete M, Legendre C, et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 2004;66:571-9 pubmed
    Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic syndrome (SRNS)...
  10. Relle M, Cash H, Brochhausen C, Strand D, Menke J, Galle P, et al. New perspectives on the renal slit diaphragm protein podocin. Mod Pathol. 2011;24:1101-10 pubmed publisher
    b>Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome...
  11. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002;11:379-88 pubmed
    Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal ..
  12. Karle S, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2002;13:388-93 pubmed
    ..A causative gene, NPHS2, has been mapped to chromosome 1q25-q31 and was recently identified by positional cloning...
  13. He N, Zahirieh A, Mei Y, Lee B, Senthilnathan S, Wong B, et al. Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2007;2:31-7 pubmed
    Recessive NPHS2 (podocin) mutations account for up to approximately 30% of steroid-resistant idiopathic FSGS in children and are associated with a reduced risk for disease recurrence after renal transplantation...
  14. Hinkes B, Mucha B, Vlangos C, Gbadegesin R, Liu J, Hasselbacher K, et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007;119:e907-19 pubmed
    Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been implicated in nephrotic syndrome, manifesting in the first year of life...
  15. Yu Z, Ding J, Huang J, Yao Y, Xiao H, Zhang J, et al. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children. Nephrol Dial Transplant. 2005;20:902-8 pubmed
    Since the identification of the NPHS2 gene, various investigators have demonstrated that an NPHS2 mutation is a frequent cause of sporadic steroid-resistant nephrotic syndrome (SRNS), and occurs in 10.5-28% of children with the syndrome...
  16. Pereira A, Pereira A, Mota G, Cunha R, Herkenhoff F, Pollak M, et al. NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int. 2004;65:1026-30 pubmed
    Microalbuminuria is a risk factor for developing end-stage renal disease and cardiovascular events. Mutations in NPHS2 have been shown to cause autosomal-recessive nephrotic syndrome...
  17. Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol. 2003;14:1278-86 pubmed
    A total of 179 children with sporadic nephrotic syndrome were screened for podocin mutations: 120 with steroid resistance, and 59 with steroid dependence/frequent relapses...
  18. Franceschini N, North K, Kopp J, McKenzie L, Winkler C. NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. Genet Med. 2006;8:63-75 pubmed
    ..Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including ..
  19. Ihalmo P, Wessman M, Kaunisto M, Kilpikari R, Parkkonen M, Forsblom C, et al. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. Diabetologia. 2008;51:86-90 pubmed
    ..Here we report a genetic association analysis of four slit diaphragm genes, LRRC7, KIRREL, NPHS2 and ACTN4, in a Finnish diabetic nephropathy cohort...
  20. Roselli S, Moutkine I, Gribouval O, Benmerah A, Antignac C. Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic. 2004;5:37-44 pubmed
    ..b>Podocin, a plasma membrane anchored stomatin-like protein, is expressed in lipid rafts at the insertion of the slit ..
  21. Zhang Q, Xiao X, Li M, Li W, Yu M, Zhang H, et al. Telmisartan improves kidney function through inhibition of the oxidative phosphorylation pathway in diabetic rats. J Mol Endocrinol. 2012;49:35-46 pubmed publisher
    ..significantly downregulated both in TeL and TeH groups, while nephrosis 1 homolog (Nphs1) and nephrosis 2 homolog (Nphs2) were significantly upregulated...
  22. Liu B, He Y, Lu R, Zhou J, Bai L, Zhang P, et al. Zhen-wu-tang protects against podocyte injury in rats with IgA nephropathy via PPAR?/NF-?B pathway. Biomed Pharmacother. 2018;101:635-647 pubmed publisher
    ..injury model by suppressing the expressions of desmin, reducing podocyte apoptosis and augmenting nephrin and podocin levels. Moreover, ZWT inhibited the phosphorylation of NF-?B and I?B?, simultaneously upregulated PPAR?...
  23. Kawamorita Y, Shiraishi T, Tamura Y, Kumagai T, Shibata S, Fujigaki Y, et al. Renoprotective effect of topiroxostat via antioxidant activity in puromycin aminonucleoside nephrosis rats. Physiol Rep. 2017;5: pubmed publisher
    ..Podocyte injury in PAN rats, as indicated by the reduction in WT-1-positive cell numbers and podocin immunoreactivity and foot process effacement, was partially yet significantly alleviated with topiroxostat ..
  24. Kho M, Park J, Han B, Tan R, Yoon J, Kim H, et al. Plantago asiatica L. Ameliorates Puromycin Aminonucleoside-Induced Nephrotic Syndrome by Suppressing Inflammation and Apoptosis. Nutrients. 2017;9: pubmed publisher
    ..Treatment with PAL also restored podocin expression and reduced inflammation markers such as intracellular adhesion molecules (ICAM-1), monocyte ..
  25. Ito Y, Katayama K, Nishibori Y, Akimoto Y, Kudo A, Kurayama R, et al. Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. Am J Physiol Renal Physiol. 2017;312:F1184-F1199 pubmed publisher
    ..involving the injection of Whsc1l1 mRNA into embryos demonstrated an apparent reduction of nephrin mRNA but not podocin and CD2AP mRNA...
  26. Yue T, Xu H, Chen P, Zheng L, Huang Q, Sheng W, et al. Combination of coenzyme Q10-loaded liposomes with ultrasound targeted microbubbles destruction (UTMD) for early theranostics of diabetic nephropathy. Int J Pharm. 2017;528:664-674 pubmed publisher
    ..An elevated level of Nphs2 protein and reduced caspase 3 level indicated the preservation of podocytes and inhibition of cell apoptosis after ..
  27. Mulukala S, Nishad R, Kolligundla L, Saleem M, Prabhu N, Pasupulati A. In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants. IUBMB Life. 2016;68:578-88 pubmed publisher
    Nephrotic syndrome (NS) is manifested by hyperproteinuria, hypoalbuminemia, and edema. NPHS2 that encodes podocin was found to have most mutations among the genes that are involved in the pathophysiology of NS...
  28. Baijnath S, Murugesan S, Mackraj I, Gathiram P, Moodley J. The effects of sildenafil citrate on urinary podocin and nephrin mRNA expression in an L-NAME model of pre-eclampsia. Mol Cell Biochem. 2017;427:59-67 pubmed publisher
    ..The EOPE and LOPE groups showed an increase in urinary nephrin mRNA and podocin mRNA levels compared to PC group...
  29. Musah S, Mammoto A, Ferrante T, Jeanty S, Hirano Kobayashi M, Mammoto T, et al. Mature induced-pluripotent-stem-cell-derived human podocytes reconstitute kidney glomerular-capillary-wall function on a chip. Nat Biomed Eng. 2017;1: pubmed publisher
    ..pluripotent stem (hiPS) cells into podocytes that express markers of the mature phenotype (nephrin+, WT1+, podocin+, Pax2-) and that exhibit primary and secondary foot processes...
  30. Boute N, Roselli S, Gribouval O, Niaudet P, Gubler M, Antignac C. [Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive]. Nephrologie. 2002;23:35-6 pubmed
  31. Bierzynska A, McCarthy H, Soderquest K, Sen E, Colby E, Ding W, et al. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int. 2017;91:937-947 pubmed publisher
    ..2% of patients. Most often this occurred in the three most common SRNS-associated genes: NPHS1, NPHS2, and WT1 but also in 14 other genes...
  32. Ndisang J, Tiwari S. Mechanisms by which heme oxygenase rescue renal dysfunction in obesity. Redox Biol. 2014;2:1029-37 pubmed publisher
    ..Moreover, the effects of the HO-system on podocyte cytoskeletal proteins like podocin, podocalyxin, CD2-associated-protein (CD2AP) and proteins of regeneration/repair like beta-catenin, Oct3/4, WT1 ..
  33. Schurek E, V lker L, Tax J, Lamkemeyer T, Rinschen M, Ungrue D, et al. A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin. J Biol Chem. 2014;289:11262-71 pubmed publisher
    ..The NPHS2 gene product podocin is a key component of the slit diaphragm cell junction at the kidney filtration barrier and part of a ..
  34. Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh Cong E, Moriniere V, et al. NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. Hum Mutat. 2014;35:178-86 pubmed publisher
    Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients...
  35. Ndisang J. Role of the heme oxygenase-adiponectin-atrial natriuretic peptide axis in renal function. Curr Pharm Des. 2015;21:4380-91 pubmed
    ..matrix/profibrotic factors, and (iii) the potentiation of podocyte cytoskeletal proteins such as nephrin, podocin, podocalyxin and CD2-associated-protein, which are fundamental for forming the glomerular filtration barrier that ..
  36. Ising C, Bharill P, Brinkkoetter S, Brähler S, Schroeter C, Koehler S, et al. Prohibitin-2 Depletion Unravels Extra-Mitochondrial Functions at the Kidney Filtration Barrier. Am J Pathol. 2016;186:1128-39 pubmed publisher
    ..PHB2 coprecipitated with podocin, another SPFH domain-containing protein, essential for the assembly of the slit diaphragm protein-lipid ..
  37. Takahashi Y, Ikezumi Y, Saitoh A. Rituximab protects podocytes and exerts anti-proteinuric effects in rat adriamycin-induced nephropathy independent of B-lymphocytes. Nephrology (Carlton). 2017;22:49-57 pubmed publisher
    ..Furthermore, rituximab treatment also prevented the reduction of glomerular nephrin and podocin expression on day 28...
  38. Lamont R, Tan W, Innes A, Parboosingh J, Schneidman Duhovny D, Rajkovic A, et al. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016;24:1436-44 pubmed publisher
    ..genetic analysis identified one family with two affected siblings who were both heterozygous for a variant in NPHS2 predicted to affect function and separate families with sequence variants in NPHS4 and BBS7 in addition to the ..
  39. Eng D, Kaverina N, Schneider R, Freedman B, Gross K, Miner J, et al. Detection of renin lineage cell transdifferentiation to podocytes in the kidney glomerulus with dual lineage tracing. Kidney Int. 2018;93:1240-1246 pubmed publisher
    ..Co-localization with podocin indicated that these cells are podocytes, derived from CoRL origin...
  40. Bai M, Chen Y, Zhao M, Zhang Y, He J, Huang S, et al. NLRP3 inflammasome activation contributes to aldosterone-induced podocyte injury. Am J Physiol Renal Physiol. 2017;312:F556-F564 pubmed publisher
    ..In the mice with NLRP3 gene deletion, Aldo-induced downregulation of nephrin and podocin, podocyte foot processes, and albuminuria was remarkably improved, indicating an amelioration of podocyte injury...
  41. Wang Y, Dang X, He Q, Zhen Y, He X, Yi Z, et al. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children. Gene. 2017;625:15-20 pubmed publisher
    ..The first phase study involved 38 children with five genes (NPHS1, NPHS2, PLCE1, WT1, and TRPC6) by Sanger sequencing...
  42. Büscher A, Beck B, Melk A, Hoefele J, Kranz B, Bamborschke D, et al. Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2016;11:245-53 pubmed publisher
    ..in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS...
  43. Azocar M, Vega Ã, Farfán M, Cano F. [NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome]. Rev Chil Pediatr. 2016;87:31-6 pubmed publisher
    b>Podocin is a protein located in the glomerular slit diaphragm where it takes part in the regulation of glomerular filtration...
  44. Ding F, Wickman L, Wang S, Zhang Y, Wang F, Afshinnia F, et al. Accelerated podocyte detachment and progressive podocyte loss from glomeruli with age in Alport Syndrome. Kidney Int. 2017;92:1515-1525 pubmed publisher
    ..Podocyte detachment rate (measured by podocin mRNA in urine pellets expressed either per creatinine or 24-hour excretion) was significantly increased 11-fold ..
  45. Zhou Z, Wan J, Hou X, Geng J, Li X, Bai X. MicroRNA-27a promotes podocyte injury via PPAR?-mediated ?-catenin activation in diabetic nephropathy. Cell Death Dis. 2017;8:e2658 pubmed publisher
    ..catenin target genes, snail1 and ?-smooth muscle actin (?-SMA) and downregulation of podocyte-specific markers podocin and synaptopodin...
  46. Yang J, Dettmar A, Kronbichler A, Gee H, Saleem M, Kim S, et al. Recent advances of animal model of focal segmental glomerulosclerosis. Clin Exp Nephrol. 2018;22:752-763 pubmed publisher
    ..group of animal models involves genetic engineering techniques targeting podocyte expression molecules, such as podocin, CD2-associated protein, and TRPC6 channels...
  47. Dhandapani M, Venkatesan V, Rengaswamy N, Gowrishankar K, Ekambaram S, Sengutavan P, et al. Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. Clin Exp Nephrol. 2017;21:127-133 pubmed publisher
    ..Familial forms of FSGS constitute podocyte diseases with varying severity and age of onset. Podocin gene (NPHS2) mutations cause childhood-onset steroid-resistant FSGS and MCD to adult-onset FSGS...
  48. Pippin J, Kaverina N, Eng D, Krofft R, Glenn S, Duffield J, et al. Cells of renin lineage are adult pluripotent progenitors in experimental glomerular disease. Am J Physiol Renal Physiol. 2015;309:F341-58 pubmed publisher
    ..mice with the â…š nephrectomy model, a subset of labeled CoRL migrated to the glomerular tuft and coexpressed podocin and synaptopodin...
  49. Detsika M, Lygirou V, Frantzis V, Zoidakis J, Atsaves V, Poulaki E, et al. Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics. Am J Nephrol. 2016;43:441-50 pubmed publisher
    ..Western blot analysis of the integral slit diaphragm proteins, nephrin and podocin revealed a significant decrease in nephrin, with no change in podocin...
  50. Yu Z, Ding J, Guan N, Shi Y, Zhang J, Huang J, et al. A novel mutation of NPHS2 identified in a Chinese family. Pediatr Nephrol. 2004;19:1285-9 pubmed
    Since the identification of the NPHS2 gene,which encodes podocin, several groups from European, Middle Eastern, and North American countries have reported NPHS2 mutations in families with steroid-resistant nephrotic syndrome (SRNS) or ..
  51. Kaverina N, Eng D, Schneider R, Pippin J, Shankland S. Partial podocyte replenishment in experimental FSGS derives from nonpodocyte sources. Am J Physiol Renal Physiol. 2016;310:F1397-413 pubmed publisher
    ..On FSGS day 7, immunostaining for the podocyte markers p57, synaptopodin, and podocin were markedly decreased by 44%, and this was accompanied by a decrease in ZsGreen fluorescence...
  52. Völker L, Schurek E, Rinschen M, Tax J, Schutte B, Lamkemeyer T, et al. Characterization of a short isoform of the kidney protein podocin in human kidney. BMC Nephrol. 2013;14:102 pubmed publisher
    ..This gene encodes the lipid binding protein podocin which localizes to the slit diaphragm of podocytes and is essential for the maintenance of an intact glomerular ..
  53. Suyama M, Miyazaki Y, Matsusaka T, Sugano N, Ueda H, Kawamura T, et al. Forced expression of vascular endothelial growth factor-A in podocytes decreases mesangial cell numbers and attenuates endothelial cell differentiation in the mouse glomerulus. Clin Exp Nephrol. 2018;22:266-274 pubmed publisher
    ..line in which Vegf was exclusively and inducibly expressed in podocytes under the control of the "Tet-on system" (Podocin-rtTA/TetO-Vegf164 mice)...
  54. Hu M, Fan M, Zhen J, Lin J, Wang Q, Lv Z, et al. FAK contributes to proteinuria in hypercholesterolaemic rats and modulates podocyte F-actin re-organization via activating p38 in response to ox-LDL. J Cell Mol Med. 2017;21:552-567 pubmed publisher
    ..hyper-phosphorylation of FAK and p38, ectopic expression of cellular markers (manifested as decreased WT1, podocin and NEPH1, and increased vimentin and mmp9), and re-arrangement of F-actin filaments with enhanced cell motility; ..
  55. Kitai M, Fukuda N, Ueno T, Endo M, Maruyama T, Abe M, et al. Effects of a spleen tyrosine kinase inhibitor on progression of the lupus nephritis in mice. J Pharmacol Sci. 2017;134:29-36 pubmed publisher
    ..their glomerulosclerosis and inhibited the increased the expression of MCP-1 and TGF-?1 mRNAs and the nephrin and podocin proteins in the kidney...
  56. Mohey H, Thibaudin L, Laurent B, Berthoux F. The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation. Ann Transplant. 2013;18:436-42 pubmed publisher
    b>Podocin is a key protein involved in the pathogenesis of steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis (FSGS) and is characterized by a high rate of early recurrence after renal transplantation (RTx) in ..
  57. Nakamura N, Taguchi K, Miyazono Y, Uemura K, Koike K, Kurokawa Y, et al. AGEs-RAGE overexpression in a patient with smoking-related idiopathic nodular glomerulosclerosis. CEN Case Rep. 2018;7:48-54 pubmed publisher
    ..analysis revealed that N-carboxymethyl lysine, one of the major AGEs, and RAGE were overexpressed and podocin expression was decreased in the peripheral area of the glomerular nodular lesions...
  58. Benetti E, Caridi G, Centi S, Vella M, Ghiggeri G, Artifoni L, et al. mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis. Saudi J Kidney Dis Transpl. 2014;25:854-7 pubmed
    The NPHS2 gene encodes podocin, a membrane protein that acts as the structural scaffold in podocyte foot processes...
  59. De Blasio M, Ramalingam A, Cao A, Prakoso D, Ye J, Pickering R, et al. The superoxide dismutase mimetic tempol blunts diabetes-induced upregulation of NADPH oxidase and endoplasmic reticulum stress in a rat model of diabetic nephropathy. Eur J Pharmacol. 2017;807:12-20 pubmed publisher
    ..isoforms (Nox4, Nox2, p47phox), accompanied by an amelioration of diabetes-induced glomerular injury (podocin, nephrin, Kim-1), tubulo-interstitial fibrosis (TGF?1, TGF?-R2, pSMAD3, ?-SMA) and pro-inflammatory cytokines (..
  60. Divers J, Palmer N, Lu L, Langefeld C, Rocco M, Hicks P, et al. Gene-gene interactions in APOL1-associated nephropathy. Nephrol Dial Transplant. 2014;29:587-94 pubmed publisher
    ..05. After Bonferroni correction, significant interactions with APOL1 were seen with SNPs in podocin (rs16854341; NPHS2, P = 8.0 × 10(-4)), in SDCCAG8 (rs2802723; P = 5.0 × 10(-4)) and near BMP4 (rs8014363; P = 1...
  61. Komatsuda A, Wakui H, Maki N, Kigawa A, Goto H, Ohtani H, et al. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis. Ren Fail. 2003;25:87-93 pubmed
    ..Recently, mutations in alpha-actinin 4 (ACTN4) and podocin genes were reported in patients with such familial FSGS...
  62. Berdeli A, Mir S, Yavascan O, Serdaroglu E, Bak M, Aksu N, et al. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol. 2007;22:2031-40 pubmed
    The podocin (NPHS2) gene encodes podocin protein, which has an important role in glomerular ultrafiltration and controlling slit membrane permeability...
  63. Jaffer A, Ahmed W, Raju D, Jahan P. Foothold of NPHS2 mutations in primary nephrotic syndrome. J Postgrad Med. 2011;57:314-20 pubmed publisher
    ..We searched Medline and Pubmed using the combination of keywords "NPHS2", "podocin", "steroid-resistant nephrotic syndrome," and "genetics" to identify studies describing ..
  64. Fan Q, Zhang H, Ding J, Liu S, Miao J, Xing Y, et al. R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms. Genes Cells. 2009;14:1079-90 pubmed publisher
    A lot of mutations of podocin, a key protein of podocyte slit diaphragm (SD), have been found both in hereditary and sporadic focal segmental glomeruloscleorosis (FSGS)...
  65. Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, et al. Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron. 2015;130:200-12 pubmed publisher
    ..Two studies showed that co-inheritance of NPHS2-p.Arg229Gln, a podocin variant, may increase the risk for proteinuria and renal function decline...
  66. Mishra O, Kakani N, Singh A, Narayan G, Abhinay A, Prasad R, et al. NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy?. J Trop Pediatr. 2014;60:231-7 pubmed publisher
    Steroid-resistant nephrotic syndrome (SRNS) patients with NPHS2 gene mutations have been reported as non-responsive to immunosuppressive therapy. Inter-ethnic differences can have influence over the frequency of mutations...
  67. Vasudevan A, Siji A, Raghavendra A, Sridhar T, Phadke K. NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome. Indian Pediatr. 2012;49:231-3 pubmed
    We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only one (4%) had a pathogenic mutation resulting in a stop codon...
  68. . Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nat Genet. 2000;25:125 pubmed
  69. Zhao Y, Li G, Wang Y, Liu Z. Alteration of Connexin43 expression in a rat model of obesity-related glomerulopathy. Exp Mol Pathol. 2018;104:12-18 pubmed publisher
    ..change of glomeruli, the foot process effacement of podocyte, the markers for podocyte injury (nephrin,podocin and WT1) and Cx43 expression in glomeruli were examined respectively...
  70. Iwai N, Tago N, Yasui N, Kokubo Y, Inamoto N, Tomoike H, et al. Genetic analysis of 22 candidate genes for hypertension in the Japanese population. J Hypertens. 2004;22:1119-26 pubmed
    ..oxidative stress (CYBA, GPX1, GSTMs), steroid hormone (ESR1, ESR2, HSD11B2), renal functions (PTGS2, KLK1, NPHS1, NPHS2, SGK, SLC12A1, PTGES), and others related to cardiovascular physiology (GJA4, NOS1, NTRK3, P2RX4, SPP1, ALDH2)...
  71. Tanaka Y, Kume S, Maeda S, Osawa N, Takeda N, Chin Kanasaki M, et al. Overexpression of acetyl CoA carboxylase ? exacerbates podocyte injury in the kidney of streptozotocin-induced diabetic mice. Biochem Biophys Res Commun. 2018;495:1115-1121 pubmed publisher
    ..showed a significant increase in urinary albumin excretion, accompanied by decreased synaptopodin expression and podocin mislocalization in podocytes, compared with wild-type mice...
  72. Wu F, Yao D, Lan T, Wang C, Gao J, He L, et al. Berberine prevents the apoptosis of mouse podocytes induced by TRAF5 overexpression by suppressing NF-?B activation. Int J Mol Med. 2018;41:555-563 pubmed publisher
    ..ester (CAPE), mimicked the protective effects of BBR, as evidenced by the increased expression of nephrin and podocin, and the decreased the expression of caspase-3 and the ratio of Bax/Bcl-2...
  73. Tofighi A, Ahmadi S, Seyyedi S, Shirpoor A, Kheradmand F, Gharalari F. Nandrolone administration with or without strenuous exercise promotes overexpression of nephrin and podocin genes and induces structural and functional alterations in the kidneys of rats. Toxicol Lett. 2018;282:147-153 pubmed publisher
    ..was to investigate the effect of nandrolone decanoate intake with or without strenuous exercise on nephrin and podocin gene expressions, cystatin C, oxidative DNA damage, and histological changes in the kidneys of rats...
  74. Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2008;19:365-71 pubmed publisher
    Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS)...
  75. Kerti A, Csohány R, Wagner L, Jávorszky E, Maka E, Tory K. NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis. Pediatr Nephrol. 2013;28:2061-4 pubmed publisher
    The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful. While it has been reported in unaffected controls, it is enriched in patients with SRNS, suggesting pathogenicity...
  76. Binczak Kuleta A, Rubik J, Litwin M, Ryder M, Lewandowska K, Taryma Leśniak O, et al. Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. Bosn J Basic Med Sci. 2014;14:89-93 pubmed
    The aim of our study was to examine NPHS1, NPHS2, WT1 and LAMB2 mutations, previously reported in two thirds of patients with nephrotic syndrome with onset before the age of one year old...
  77. Harendza S, Stahl R, Schneider A. The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism. Cell Mol Biol Lett. 2009;14:679-91 pubmed publisher
    b>Podocin (NPHS2) is a component of the glomerular slit membrane with major regulatory functions in the renal permeability of proteins...
  78. Caridi G, Dagnino M, Carrea A, Massella L, Amore A, Emma F, et al. Lack of cardiac anomalies in children with NPHS2 mutations. Nephrol Dial Transplant. 2007;22:1477-9 pubmed
  79. Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, et al. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatr Nephrol. 2018;33:305-314 pubmed publisher
    ..1%) families. Mutations were detected in the six genes: NPHS1 (2 out of 72), WT1 (2 out of 72), NPHS2, MYO1E, TRPC6, and INF2. Median age at onset was 4.1 years in patients without a mutation (range 0.5-18.8), and 3...
  80. Sadowski C, Lovric S, Ashraf S, Pabst W, Gee H, Kohl S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279-89 pubmed publisher
    ..We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS...
  81. Huang F, Wang Q, Ma X, Wu L, Guo F, Qin G. Valsartan inhibits amylin-induced podocyte damage. Microvasc Res. 2016;106:101-9 pubmed publisher
    ..Expression of genes including nephrin, podocin, AT1R and desmin was measured through quantitative real time PCR, western blot and immunohistochemistry...
  82. Caridi G, Dagnino M, Sanna Cherchi S, Perfumo F, Ghiggeri G. Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected]. Transplant Proc. 2006;38:3486-90 pubmed
    ..origin, in which plasma factors determine the shedding of proteins of the slit-diaphragm, such as nephrin and podocin, with structural alterations of the ultra-filtering unit of the glomerulus...
  83. Carrasco Miranda J, Garcia Alvarez R, Sotelo Mundo R, Valenzuela O, Islas Osuna M, Sotelo Cruz N. Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment. Genet Mol Res. 2013;12:2102-7 pubmed publisher
    ..Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome...
  84. Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol. 2003;18:412-6 pubmed
    b>Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25-31 and is exclusively expressed in glomerular podocytes...
  85. Suvanto M, Patrakka J, Jahnukainen T, Sjöström P, Nuutinen M, Arikoski P, et al. Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern. Clin Exp Nephrol. 2017;21:677-684 pubmed publisher
    ..We carried out a whole genome sequencing in two affected and two healthy family members. The function of found podocin variant was studied using co-immunoprecipitation and immunohistochemistry...
  86. Chernin G, Heeringa S, Gbadegesin R, Liu J, Hinkes B, Vlangos C, et al. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2008;23:1455-60 pubmed publisher
    ..analysis of large cohorts revealed that a high percentage of childhood SRNS is monogenic and that mutations in podocin (NPHS2) and Wilms' tumor gene 1 (WT1) account for approximately 30% of SRNS in children...
  87. Doublier S, Zennaro C, Musante L, Spatola T, Candiano G, Bruschi M, et al. Soluble CD40 ligand directly alters glomerular permeability and may act as a circulating permeability factor in FSGS. PLoS ONE. 2017;12:e0188045 pubmed publisher
    ..Furthermore, in vivo injection of sCD40L induced a significant reduction of nephrin and podocin expression in mouse glomeruli, although no significant increase of urine protein/creatinine ratio was observed ..
  88. Lu L, Sun X, Yin Y, Huang Y, Wang M, Wan H, et al. The amino acid mutations of the podocin in proteinuria: a meta-analysis. Ren Fail. 2015;37:1329-37 pubmed publisher
    While many previous studies have reported an association between the single-nucleotide polymorphisms (SNPs) of the podocin and proteinuria occurred, a conclusive relationship has not been defined in every oligoallelic state of amino acid ..
  89. Guaragna M, Lutaif A, Piveta C, Souza M, de Souza S, Henriques T, et al. NPHS2 mutations account for only 15% of nephrotic syndrome cases. BMC Med Genet. 2015;16:88 pubmed publisher
    ..the great majority of steroid-resistant cases have been attributed to mutations in three main genes: NPHS1, NPHS2 and WT1...