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Article

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.

Human molecular genetics - 1 Dec 2005

Moumné Lara, Fellous Marc, Veitia Reiner A

Abstract excerpt

Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome. This genetic disorder is characterized by eyelid and craniofacial abnormalities associated or not with premature ovarian failure. We have previously shown that mutant FOXL2 with an expanded polyAlanine (polyAla) tract forms large aggregates both in the nucleus and...

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Source

Identifiers

PMID: 16219626
DOI: 10.1093/hmg/ddi383

Genes

FOXL2

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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Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.PMID 16219626Read ↗

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The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.Semantic proximity Read ↗

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