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Article

Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.

BMC medical genetics - 20 Aug 2018

Safarikova Marketa, Stekrova Jitka, Honsova Eva, Horinova Vera, Tesar Vladimir, Reiterova Jana

Abstract excerpt

BACKGROUND: Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes for inverted formin 2. This protein participates in regulation of the dynamics of the actin cytoskeleton, involving not only the polymerisation, but also the...

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Source

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Identifiers

PMID: 30126379
DOI: 10.1186/s12881-018-0667-9
PMCID: PMC6102913

Genes

INF2

Variants

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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