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Nephrosis 2, idiopathic, steroid-resistant

This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Nephrin, HAD, AGE, CAN, alpha-actinin-4
Papers on NPHS2
Transition-Metal-Free Self-Hydrogen-Transferring Allylic Isomerization.
Tang et al., Hefei, China. In Org Lett, Jan 2016
Phenanthroline and tert-butoxide have been established as powerful radical initiators in reactions such as the SRN1-type coupling reactions due to the cooperation of large heteroarenes and a special feature of tert-butoxide.
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
German Pediatric Nephrology Association (GPN) et al., Essen, Germany. In Clin J Am Soc Nephrol, Jan 2016
RESULTS: The overall mutation detection rate was high at 57% (97% 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.
Notch1 and Notch2 in Podocytes Play Differential Roles During Diabetic Nephropathy Development.
Susztak et al., Kumamoto, Japan. In Diabetes, Dec 2015
Here, we report that conditional deletion of Notch1 in podocytes using NPHS2(cre)Notch1(flox/flox) animals resulted in marked amelioration of DKD.
[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome].
Cano et al., Santiago, Chile. In Rev Chil Pediatr, Nov 2015
Mutations of the NPHS2 gene that codes podocin are the main cause of autosomal recessive steroid resistant nephrotic syndrome (SRNS).
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.
Gbadegesin et al., Durham, United States. In Clin Kidney J, Oct 2015
BACKGROUND: Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS).
Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
Deltas et al., Nicosia, Cyprus. In Nephron, 2014
Two studies showed that co-inheritance of NPHS2-p.Arg229Gln, a podocin variant, may increase the risk for proteinuria and renal function decline.
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Jalanko et al., Helsinki, Finland. In Pediatr Nephrol, 2014
NS recurrence has also occurred in a few patients with mutations in the podocin gene (NPHS2).
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
Liapis et al., Saint Louis, United States. In Bmc Nephrol, 2014
Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
De Mello et al., Campinas, Brazil. In Bmc Med Genet, 2014
Mutations in more than 24 genes have been associated with nephrotic syndrome in children, although the great majority of steroid-resistant cases have been attributed to mutations in three main genes: NPHS1, NPHS2 and WT1.
The electron is a catalyst.
Curran et al., Münster, Germany. In Nat Chem, 2014
Diverse radical cascades, including unimolecular radical substitution reactions (SRN1-type chemistry), base-promoted homolytic aromatic substitutions (BHAS), radical Heck-type reactions, radical cross-dehydrogenative couplings (CDC), direct arene trifluoromethylations and radical alkoxycarbonylations, can all be viewed as electron-catalysed reactions.
Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules.
Kawachi et al., Niigata, Japan. In World J Nephrol, 2014
Podocin was identified as a gene product of NPHS2, a gene for a familial steroid-resistant nephrotic syndrome of French.
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Antignac et al., Budapest, Hungary. In Nat Genet, 2014
We show that, contrary to expectations, this allele leads to a disease phenotype only when it is associated specifically with certain 3' NPHS2 mutations because of an altered heterodimerization and mislocalization of the encoded p.Arg229Gln podocin.
[Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome].
Wang et al., Changzhou, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2014
Among the identified genes mutated in podocytes include NPHS2, NPHS1, WT1, TRPC6, MDR1, PLCE1, LMX1B, and LAMB2.
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Mehdi et al., Karāchi, Pakistan. In Gene, 2012
A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene.
Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.
Deltas et al., Nicosia, Cyprus. In Pediatr Nephrol, 2012
in patients with familial hematuria, NPHS2-R229Q predisposes to proteinuria and end-stage kidney disease
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
Tesař et al., Praha, Czech Republic. In Folia Biol (praha), 2011
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
Foothold of NPHS2 mutations in primary nephrotic syndrome.
Jahan et al., Hyderābād, India. In J Postgrad Med, 2011
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.
[The correlation between NPHS2 polymorphism and IgA nephropathy in northern Chinese patients].
Zhang et al., Beijing, China. In Zhonghua Nei Ke Za Zhi, 2011
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.
Podocyte-secreted angiopoietin-like-4 mediates proteinuria in glucocorticoid-sensitive nephrotic syndrome.
Chugh et al., Birmingham, United States. In Nat Med, 2011
Podocyte-specific transgenic overexpression of Angptl4 (NPHS2-Angptl4) in rats induced nephrotic-range, and selective, proteinuria (over 500-fold increase in albuminuria), loss of glomerular basement membrane (GBM) charge and foot process effacement, whereas transgenic expression specifically in the adipose tissue (aP2-Angptl4) resulted in increased circulating Angptl4, but no proteinuria.
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Antignac et al., Paris, France. In Nat Genet, 2000
NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family.
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