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Article

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

1 Nov 2001

Abstract excerpt

Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. Although the disease occurs predominantly in the Finnish population, many cases in other populations have also been reported. The disease gene (NPHS1) encodes nephrin, a podocyte transmembrane protein that is an essential component of the podocyte slit...

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PMID: 11726550
DOI: 10.1093/hmg/10.23.2637

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Related research

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Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndromePMID 11726550Read ↗

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Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membraneSemantic proximity Read ↗

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Nephrin is specifically located at the slit diaphragm of glomerular podocytes.Semantic proximity Read ↗

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.Semantic proximity Read ↗

Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.Semantic proximity Read ↗

Impaired NEPHRIN localization in kidney organoids derived from nephrotic patient iPS cellsSemantic proximity Read ↗

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.Semantic proximity Read ↗

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