A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.

doi:10.1016/j.kint.2021.10.031

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Article

A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.

Kidney international - 1 Mar 2022

Falcone Sara, Nicol Thomas, Blease Andrew, Randles Michael J, Angus Elizabeth, Page Anton, Tam Frederick W K, Pusey Charles D, Lennon Rachel, Potter Paul K

Abstract excerpt

Nephrotic syndrome is characterized by severe proteinuria, hypoalbuminaemia, edema and hyperlipidaemia. Genetic studies of nephrotic syndrome have led to the identification of proteins playing a crucial role in slit diaphragm signaling, regulation of actin cytoskeleton dynamics and cell-matrix interactions. The laminin α5 chain is essential for embryonic development and, in association with laminin β2 and laminin...

Topics

Animals
Genetic Background
Glomerular Basement Membrane
Humans
Mice
Mutation
Nephrotic Syndrome
Point Mutation
Proteinuria
Proteomics

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Identifiers

PMID: 34774562
DOI: 10.1016/j.kint.2021.10.031
PMCID: PMC8883398

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