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Article

Mutations in PAX2 associate with adult-onset FSGS.

Journal of the American Society of Nephrology : JASN - 1 Sept 2014

Barua Moumita, Stellacci Emilia, Stella Lorenzo, Weins Astrid, Genovese Giulio, Muto Valentina, Caputo Viviana, Toka Hakan R, Charoonratana Victoria T, Tartaglia Marco, Pollak Martin R

Abstract excerpt

FSGS is characterized by the presence of partial sclerosis of some but not all glomeruli. Studies of familial FSGS have been instrumental in identifying podocytes as critical elements in maintaining glomerular function, but underlying mutations have not been identified for all forms of this genetically heterogeneous condition. Here, exome sequencing in members of an index family with dominant FSGS revealed a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24676634
DOI: 10.1681/ASN.2013070686
PMCID: PMC4147972

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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