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NCBI Gene PubMed Count 126
PubMed Score 342.88
PubTator Score 237.53

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PMID Text
26420286 NPHS2 mutations account for only 15% of nephrotic syndrome cases.
26211502 Oligoallelic amino acid mutations in podocin may be potential causative mutations for proteinuria (meta-analysis)
26138234 The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations
25676004 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.
25599733 NPHS2 rs61747728 variant is not associated with nephrotic syndrome in children.
25349199 A single gene is involved in the development of steroid-resistant nephrotic syndrome.
25112471 NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants
24969201 Case Report: novel NPHS2 sequence variant in a girl with steroid-resistant nephrotic syndrome and focal and segmental glomerulosclerosis.
24856380 Four patients had homozygous c.413G>A (p.Arg138Gln) NPHS2 mutations; one subject was homozygous for c.868G>A (p.Val290Met) NPHS2.
24715228 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.
24674236 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.
24596097 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.
24519673 Thus, NPHS2 gene showed R229Q polymorphism and patients achieved partial remission to therapy.
24509478 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
24413855 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.
24337247 The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros.
24227627 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.
24157943 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.
24072153 The NPHS2 gene p.R229Q polymorphism does not present in an Iranian-Azeri population with late-onset steroid-resistance nephrotic syndrome.
24072147 Mutations of podocin were frequent among south-west Iranian pediatric population with steroid-resistant nephrotic syndrome.
23982418 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.
23913389 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
23800802 Focal segmental glomerulosclerosis patients with NPHS2 homozygous p.R229Q should be screened for the causative mutation in a second gene.
23648087 A second short isoform of podocin was found to be expressed in the kidney.
23645318 analysis of NPHS2 mutations in Polish patients with steroid-resistant nephrotic syndrome reveals a founder effect
23242530 Suggest screening for NPHS2 p.R229Q/p.V290M mutations in Central and Eastern European patients with late-onset steroid-resistant nephrotic syndrome.
23013956 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
22578956 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
22565185 A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene.
22321327 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.
22228437 in patients with familial hematuria, NPHS2-R229Q predisposes to proteinuria and end-stage kidney disease
22120861 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.
22080622 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.
21655212 The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy.
21499232 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
21478284 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.
21171529 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
21125408 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS2.
20947785 NPHS2 mutation analysis has a clinical value in both childhood- and adult-onset steroid-resistant nephrotic syndrome patients.
20947785 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20507940 NPHS1 mutations associated with an earlier onset of congenital nephrotic syndrome and worse renal outcomes than NPHS2 mutations.
20507940 Observational study of gene-disease association. (HuGE Navigator)
20457601 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).
20442690 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20025681 Observational study of gene-disease association. (HuGE Navigator)
20001346 The compound heterozygous mutation in NPHS2 may explain the development of steroid-resistant nephrotic syndrome in this Chinese family.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19674119 These results implicated that mutant podocin (R168H) and mutant podocin (V165X) induced different degrees of podocyte injury, which might be resulted from different molecular mechanisms.
19562271 podocin is specifically regulated by the transcription factor Lmx1b and by the functional polymorphism -116C/T.
19536175 Observational study of gene-disease association. (HuGE Navigator)
19520069 Observational study of gene-disease association. (HuGE Navigator)
19406966 single mutation or variant in NPHS1 and NPHS2 does not modify the outcome of primary nephrotic syndrome
19406966 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19395786 Observational study of gene-disease association. (HuGE Navigator)
19371226 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome are reported.
19371226 Observational study of gene-disease association. (HuGE Navigator)
19145239 compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly among patients of European and South American origin
19145239 Observational study of gene-disease association. (HuGE Navigator)
19099831 NPHS2 mutations are not a major cause of familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group.
18823551 The presence of either of the most common non-synonymous NPHS2 variants, p.R229Q and p.A242V, does not significantly alter the risk of albuminuria in these participants, nor does p.R229Q associate with diabetic nephropathy.
18823551 Observational study of gene-disease association. (HuGE Navigator)
18726620 The early demonstration of R229Q mutation in NPHS2 in patients with thin-basement-membrane nephropathy may indicate those at increased risk of proteinuria and renal impairment.
18726620 Observational study of gene-disease association. (HuGE Navigator)
18543005 Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
18543005 Observational study of gene-disease association. (HuGE Navigator)
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18499321 No significant association of the relatively rare R229Q variant and urinary albumin-creatinine ratio or estimated glomerular filtration rate was found in either white or black individuals
18499321 Observational study of gene-disease association. (HuGE Navigator)
18334793 NPHS2 mutations are prevalent in Egyptian children with non-familial steroid-resistant nephrotic syndrome (SRNS) and this may in part explain the less favorable prognosis reported in these patients
18216321 Observational study of gene-disease association. (HuGE Navigator)
18216321 nephrotic syndrome in children with truncating or homozygous R138Q mutations manifests predominantly before 6 yr of life, and the onset of disease is significantly earlier than for any other podocin mutations
18208440 no causative NPHS2 mutations were identified in Japanese pediatric focal segmental glomerulosclerosis patients with or without post-transplant recurrence
18058136 Observational study of genotype prevalence. (HuGE Navigator)
18000687 Late steroid-resistant nephrotic syndrome is not typically associated with mutations in the NPHS2 gene.
17968527 common variants in LRRC7, KIRREL, NPHS2 and ACTN4 do not appeear to contribute to susceptibility to diabetic nephropathy in Finnish patients with type 1 diabetes
17968527 Observational study of gene-disease association. (HuGE Navigator)
17942957 Observational study of gene-disease association. (HuGE Navigator)
17942957 These results indicate that genetic variation or mutation of NPHS2 may play a role in late-onset sporadic FSGS.
17934764 NPHS2 and WT1 are now known to be genes commonly involved in the pathogenesis of sporadic steroid-resistant nephrotic syndrome. However, the incidence of NPHS2 gene mutation shows interethnic difference.
17899208 Observational study of genotype prevalence. (HuGE Navigator)
17899208 Podocin mutations are responsible for some of both familial and sporadic steroid-resistant nephrotic syndrome cases in Turkey.
17699384 data do not support R229Q as a disease-causing mutation for steroid-resistant focal segmental glomerulosclerosis
17635752 Observational study of gene-disease association. (HuGE Navigator)
17635752 no significant difference in the genotypic and allelic frequencies of the identified 954T > C and 1038A > G polymorphisms between the sporadic IgA nephropathy patients and normal controls was found
17393177 Observational study of gene-disease association. (HuGE Navigator)
17393177 The result did not support the possible role of the NPHS2 gene in susceptibility to Henoch-Schonlein purpura nephritis in the population studied.
17371932 Observational study of genotype prevalence. (HuGE Navigator)
17218332 re-evaluated cclinical fils and echocardiography of 12 patients with NPHS2 mutation and sporadic nephrotic syndrome and failed to confirm association with cardiac defects
17216259 study suggests mutations in NPHS2 & WT1 are not a cause of uncomplicated steroid sensitive nephrotic syndrome or frequently relapsing & steroid-dependent nephrotic syndrome(FRNS/SDNS)
17211152 Observational study of gene-disease association. (HuGE Navigator)
17211152 Mutations may play pathogenetic roles in some patients with sporadic steroid resistant nephrotic syndrome.
17175312 Post kidney transplantation recurrence of podocin in patients carrying homozygous and/or heterozygous posttransplantation recurrence of FSGS in patients originally carrying homozygous and/or heterozygous focal segmental glomerulosclerosis mutations.
16968734 A striking finding in this study is the lack of contribution of NPHS1, NPHS2, and NEPH1 genes in 15 Asian families with steroid-resistant nephrotic syndrome.
16898497 Gene mutations for podocin cause the damage of filtration barrier of glomerulus and proteinuria in consequence.
16572591 Observational study of genotype prevalence. (HuGE Navigator)
16481888 Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator)
16439601 Observational study of genotype prevalence. (HuGE Navigator)
15954915 Observational study of gene-disease association. (HuGE Navigator)
15954915 uncommon variants of the NPHS2 gene may play a role in the development of nondiabetic end stage renal disease in African Americans
15942677 serum and plasma factors from focal segmental glomerulosclerosis patients may directly affect nephrin and podocin in human podocytes
15817495 Clinical spectrum and fine mechanisms of NPHS2 (Podocin) mutations in nephrotic syndrome [review]
15780077 Mutation of NPHS2 can be responsible for congenital nephrotic syndrome in Japanese patients.
15769810 Observational study of gene-disease association. (HuGE Navigator)
15659563 exposure to normal and non-nephrotic human plasma leads to a concentration of nephrin, podocin, CD2AP, and actin at the cell surface in podocytes
15496146 In steroid-resistant nephrotic syndrome some missense mutations in NPHS2 lead to misfolding and mislocalization of mutated podocin and interfere with slit diaphragm structure and function by altering proper trafficking of nephrin to plasma membrane.
15327385 NPHS2 mutations result in profound alteration of podocin expression and/or distribution.
15322893 We identified a novel mutation of NPHS2 gene(467_468insT and 503G>A) in a Chinese family with autosomal recessive steroid-resistent nephrotic syndrome by mutational analysis.
15253708 Heterozygous NPHS2 variants may play a role in atypical cases with mild, late-onset course, and recurrence after transplantation.
15167446 Observational study of gene-disease association. (HuGE Navigator)
14871423 Observational study of gene-disease association. (HuGE Navigator)
14871423 A strong association was found between the 229Q allele and microalbuminuria (P= 0.008).
14675423 Data show that brefeldin A and most of the NPHS2/podocin mutations lead to retention of podocin in the endoplasmic reticulum.
14570703 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 proteins are essential for the integrity of the glomerular filter.
12961083 Dramatic decrease of podocin expression was found in children with nephrotic syndrome.
12707396 mutation is associated with early onset of proteinuria and variable renal lesions
12687458 Observational study of gene-disease association. (HuGE Navigator)
12687458 NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by sporadic SRNS or heavy proteinuria in Japanese children.
12649741 results reveal defective cellular processing of the mutant podocin, and provide evidence for pharmacological correction of the processing defect
12617336 Mutations in alpha-actinin 4 (ACTN4) and podocin genes were reported in patients with such familial FSGS.
12464671 Mutated in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
12368218 co-localization of nephrin, this protein and the actin cytoskeleton: evidence for a role in podocyte foot process formation.
12089392 Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.
11908478 Ten NPHS2 autosomal recessive mutations have been identified in corticosteroid resistant familial nephrotic syndrome. Podocin plays a major role in glomerular filtration and podocyte physiology.
11854170 Mutations interact with nephrin to produce either nephrotic syndrome or focal glomerosclerosis, depending on alleles.
11729243 First evidence of podocin mutations in sporadic steroid-resistant nephrotic syndrome.
11241850 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPEPSGSGRAGTPGEPRAPAATVVDVDEV      1 - 70
RGSGEEGTEVVALLESERPEEGTKSSGLGACEWLLVLISLLFIIMTFPFSIWFCVKVVQEYERVIIFRLG     71 - 140
HLLPGRAKGPGLFFFLPCLDTYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHV    141 - 210
SKAVQFLVQTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQHSLAV    211 - 280
EAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEKPSTVVLPLPFDLLNCL    281 - 350
SSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML                                         351 - 383
//

Text Mined References (128)

PMID Year Title
26420286 2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases.
26211502 2015 The amino acid mutations of the podocin in proteinuria: a meta-analysis.
26138234 2015 Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
25676004 2015 Podocin is translocated to cytoplasm in puromycin aminonucleoside nephrosis rats and in poor-prognosis patients with IgA nephropathy.
25599733 2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25112471 2014 NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
24969201 2014 mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.
24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24715228 2014 The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
24674236 2014 NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians.
24596097 2014 A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin.
24519673 2014 NPHS2 R229Q polymorphism in steroid resistant nephrotic syndrome: is it responsive to immunosuppressive therapy?
24509478 2014 Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
24413855 Steroid-resistant nephrotic syndrome: impact of genetic testing.
24337247 2014 Nephrin and Podocin functions are highly conserved between the zebrafish pronephros and mammalian metanephros.
24227627 2014 NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
24157943 2014 Gene-gene interactions in APOL1-associated nephropathy.
24072153 2013 R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.
24072147 2013 NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.
23982418 2013 The podocin mutation R229Q and early recurrence (within the first year) of glomerular disease after renal transplantation.
23913389 2013 Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.
23800802 2013 NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
23648087 2013 Characterization of a short isoform of the kidney protein podocin in human kidney.
23645318 2013 Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23436459 2013 Active proteases in nephrotic plasma lead to a podocin-dependent phosphorylation of VASP in podocytes via protease activated receptor-1.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23242530 2013 NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
23013956 2012 NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.
22662192 2012 IQGAP1 interacts with components of the slit diaphragm complex in podocytes and is involved in podocyte migration and permeability in vitro.
22578956 2012 Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
22565185 2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
22321327 2011 [The correlation between NPHS2 polymorphism and IgA nephropathy in northern Chinese patients].
22228437 2012 Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
22120861 Foothold of NPHS2 mutations in primary nephrotic syndrome.
22080622 2012 NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome.
21722858 2011 Disruption of PTPRO causes childhood-onset nephrotic syndrome.
21655212 2011 Urinary podocyte-associated mRNA profile in various stages of diabetic nephropathy.
21499232 2011 New perspectives on the renal slit diaphragm protein podocin.
21478284 2011 Podocyte main slit diaphragm proteins, nephrin and podocin, are affected at early stages of lupus nephritis and correlate with disease histology.
21171529 2010 Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
21125408 2011 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
20947785 2011 Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20507940 2010 Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
20457601 2010 CIN85/RukL is a novel binding partner of nephrin and podocin and mediates slit diaphragm turnover in podocytes.
20442690 2010 WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
20025681 2009 Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy.
20001346 2009 A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19674119 2009 R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms.
19562271 2009 The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism.
19536175 2009 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
19520069 2009 Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients.
19406966 2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
19395786 2009 NPHS2 mutations in children with steroid-resistant nephrotic syndrome.
19371226 2009 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
19145239 2009 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
19099831 2008 [Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18823551 2008 NPHS2 variation in focal and segmental glomerulosclerosis.
18726620 2008 The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.
18543005 2008 Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18499321 2008 The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.
18334793 2008 NPHS2 mutations.
18216321 2008 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
18208440 2008 Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation.
18058136 2008 Eye involvement in children with primary focal segmental glomerulosclerosis.
18000687 2008 Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndrome.
17968527 2008 Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy.
17942957 2007 NPHS2 variation in sporadic focal segmental glomerulosclerosis.
17934764 2008 WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
17899208 2007 NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
17699384 2007 Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.
17675666 2007 Podocin participates in the assembly of tight junctions between foot processes in nephrotic podocytes.
17635752 2007 Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy.
17393177 2007 Lack of association between NPHS2 gene polymorphisms and Henoch-Schönlein purpura nephritis.
17371932 2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
17218332 2007 Lack of cardiac anomalies in children with NPHS2 mutations.
17216259 2007 Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.
17211152 2007 NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.
17175312 2006 Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].
17109732 2007 Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies.
16968734 2006 Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.
16898497 2006 [Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report].
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16572591 2006 Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.
16481888 2006 NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.
16439601 2006 Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
15954915 2005 Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
15942677 2005 Direct effect of plasma permeability factors from patients with idiopatic FSGS on nephrin and podocin expression in human podocytes.
15817495 2005 NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
15780077 2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
15769810 2005 Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
15659563 2005 Nephrotic plasma alters slit diaphragm-dependent signaling and translocates nephrin, Podocin, and CD2 associated protein in cultured human podocytes.
15496146 2004 Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15327385 2004 In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
15322893 2004 A novel mutation of NPHS2 identified in a Chinese family.
15253708 2004 NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
15167446 2004 Genetic analysis of 22 candidate genes for hypertension in the Japanese population.
14871423 2004 NPHS2 R229Q functional variant is associated with microalbuminuria in the general population.
14675423 2004 Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
14570703 2003 Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
12961083 2003 Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome.
12707396 2003 Broadening the spectrum of diseases related to podocin mutations.
12687458 2003 NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.
12649741 2003 Intracellular mislocalization of mutant podocin and correction by chemical chaperones.
12617336 2003 Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464671 2002 NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
12424224 2003 NEPH1 defines a novel family of podocin interacting proteins.
12368218 2002 Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation.
12089392 2002 Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.
11908478 2002 [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].
11854170 2002 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
11805168 2002 Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.
11805166 2002 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
11786407 2002 Podocin localizes in the kidney to the slit diaphragm area.
11733557 2001 Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.
11729243 2001 Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.
11562357 2001 Interaction with podocin facilitates nephrin signaling.
11241850 2001 Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese.
10802674 2000 Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome"
10742096 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
8589695 1995 Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.