| http://purl.uniprot.org/citations/10742096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10742096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10742096 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. A causative gene for this disease, NPHS2, was mapped to 1q25-31 and we report here its identification by positional cloning. 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. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.org/dc/terms/identifier | "doi:10.1038/74166"xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.org/dc/terms/identifier | "doi:10.1038/74166"xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Lee H."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Lee H."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Dahan K."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Dahan K."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Roselli S."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Roselli S."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Gribouval O."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Gribouval O."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Gubler M.-C."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Gubler M.-C."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Niaudet P."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Niaudet P."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Fuchshuber A."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Fuchshuber A."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Benessy F."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Benessy F."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Boute N."xsd:string |
| http://purl.uniprot.org/citations/10742096 | http://purl.uniprot.org/core/author | "Boute N."xsd:string |