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Nephrosis 1, congenital, Finnish type

Nephrin, NPHS1
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: NPHS2, HAD, CAN, Actin, AGE
Papers on Nephrin
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
New
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.
Shp2 associates with and enhances nephrin tyrosine phosphorylation and is necessary for foot process spreading in mouse models of podocyte injury.
New
Garg et al., Ann Arbor, United States. In Mol Cell Biol, Jan 2016
The cell adhesion proteins nephrin and neph1 localize to the slit diaphragm and transduce signals in a Src Family kinase Fyn mediated tyrosine phosphorylation-dependent manner.
Human Induced Pluripotent Stem Cell-Derived Podocytes Mature into Vascularized Glomeruli upon Experimental Transplantation.
New
Nishinakamura et al., Kumamoto, Japan. In J Am Soc Nephrol, Dec 2015
Here, using transcription activator-like effector nuclease-mediated homologous recombination, we generated human iPS cell lines that express green fluorescent protein (GFP) in the NPHS1 locus, which encodes nephrin, and we show that GFP expression facilitated accurate visualization of nephrin-positive podocyte formation in vitro.
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: a novel mutation is described.
New
De Mello et al., Campinas, Brazil. In Nephrology (carlton), Dec 2015
NPHS1 encodes nephrin, a member of the immunoglobulin family of cell adhesion molecules and the main protein expressed at the renal slit diaphragm.
[Research on the Combined Detection of Urine UmAlb and Urinary Nephrin, Podocalyxin in Podocyte of MKR Mice with Diabetic Nephropathy].
New
Wu et al., In Sichuan Da Xue Xue Bao Yi Xue Ban, Sep 2015
OBJECTIVE: To explore the combined detection of urine UmAlb and urinary nephrin (Unephrin), podocalyxin (UPCX) in podocyte of MKR mice with diabetic nephropathy.
An update: the role of Nephrin inside and outside the kidney.
Review
New
He et al., Shanghai, China. In Sci China Life Sci, Jul 2015
Nephrin is a key molecule in podocytes to maintain normal slit diaphragm structure.
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
Review
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.
Therapeutic target for nephrotic syndrome: Identification of novel slit diaphragm associated molecules.
Review
Kawachi et al., Niigata, Japan. In World J Nephrol, 2014
Nephrin, a gene product of NPHS1, a gene for a congenital nephrotic syndrome of Finnish type, constitutes an extracellular domain of the slit diaphragm.
Nephrin - a biomarker of early glomerular injury.
Review
Rudd et al., Townsville, Australia. In Biomark Res, 2013
Nephrin is a 180 KD trans-membrane protein expressed in glomerular podocytes.
Genes and podocytes - new insights into mechanisms of podocytopathy.
Review
Koziell et al., London, United Kingdom. In Front Endocrinol (lausanne), 2013
After decades of primarily morphological study, positional cloning of the NPHS1 gene was the landmark event that established aberrant podocyte genetics as a pivotal cause of malfunction of the glomerular filter.
Focal segmental glomerulosclerosis is induced by microRNA-193a and its downregulation of WT1.
Impact
Kerjaschki et al., Vienna, Austria. In Nat Med, 2013
Decreased expression levels of WT1 lead to downregulation of its target genes PODXL (podocalyxin) and NPHS1 (nephrin), as well as several other genes crucial for the architecture of podocytes, initiating a catastrophic collapse of the entire podocyte-stabilizing system.
SIRPα interacts with nephrin at the podocyte slit diaphragm.
GeneRIF
Igarashi et al., Tokyo, Japan. In Febs J, 2012
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
Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells.
GeneRIF
Fornoni et al., Miami, United States. In J Biol Chem, 2012
Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells.
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
GeneRIF
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.
Dysregulated nephrin in diabetic nephropathy of type 2 diabetes: a cross sectional study.
GeneRIF
He et al., New York City, United States. In Plos One, 2011
finding that nephrinuria is observed in a majority of these normoalbuminuric patients demonstrates that it may precede microalbuminuria
Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.
GeneRIF
Nie et al., Fuzhou, China. In Genet Mol Res, 2011
Finding lesuggest that NPHS1 mutations are also present in sporadic Chinese CNS cases.
The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm.
Impact
Denholm et al., Cambridge, United Kingdom. In Nature, 2009
Furthermore, we find that the nephrocyte diaphragm is completely lost in flies lacking the orthologues of nephrin or NEPH1-a phenotype resembling loss of the slit diaphragm in the absence of either nephrin (as in human congenital nephrotic syndrome of the Finnish type, NPHS1) or NEPH1.
Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes.
Impact
GeneRIF
Pawson et al., Toronto, Canada. In Nature, 2006
nephrin selectively binds the Src homology 2 (SH2)/SH3 domain-containing Nck adaptor proteins, which in turn control the podocyte cytoskeleton in vivo
CD2-associated protein and glomerular disease.
Review
Impact
Stahl et al., Hamburg, Germany. In Lancet, 2003
Nephrin and podocin are slit-diaphragm proteins identified in families with congenital nephrotic syndromes.
Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.
Impact
Jalanko et al., Helsinki, Finland. In Lancet, 2002
High concentrations of alpha-fetoprotein (AFP) are used for prenatal diagnosis of the Finnish type of congenital nephrotic syndrome (NPHS1).
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