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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...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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