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Article

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Kidney international - 1 Jan 2012

Gbadegesin Rasheed A, Lavin Peter J, Hall Gentzon, Bartkowiak Bartlomiej, Homstad Alison, Jiang Ruiji, Wu Guanghong, Byrd Alison, Lynn Kelvin, Wolfish Norman, Ottati Carolina, Stevens Paul, Howell David, Conlon Peter, Winn Michelle P

Abstract excerpt

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients...

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Identifiers

PMID: 21866090
DOI: 10.1038/ki.2011.297
PMCID: PMC3694501

Genes

INF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.PMID 21866090Read ↗

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A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.Semantic proximity Read ↗

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