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      NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

      Nature genetics

      Animals, Blood Proteins, genetics, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Cloning, Molecular, DNA Mutational Analysis, Expressed Sequence Tags, Fetus, Genes, Recessive, Genetic Linkage, Helminth Proteins, Humans, In Situ Hybridization, Intracellular Signaling Peptides and Proteins, Kidney Glomerulus, embryology, metabolism, Membrane Proteins, Molecular Sequence Data, Multigene Family, Mutation, Nephrotic Syndrome, Organ Specificity, Pedigree, Physical Chromosome Mapping, Reverse Transcriptase Polymerase Chain Reaction, Sequence Homology, Amino Acid

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          Abstract

          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.

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          Journal
          10742096
          10.1038/74166

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