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Updated: Jun 19, 2026

Isolation of Glomeruli and In Vivo Labeling of Glomerular Cell Surface Proteins
Published on: January 18, 2019
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology
Eduardo Machuca1, Geneviève Benoit, Corinne Antignac
1Inserm, U574, Hôpital Necker-Enfants Malades, Paris, France.
Abstract:
Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell-matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.
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