Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

Journal of medical genetics - 1 Dec 2004

Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia R A

Abstract excerpt

Blepharophimosis syndrome is an autosomal dominant disease characterised by eyelid malformations, associated or not with premature ovarian failure. It is caused by mutations in the FOXL2 gene, which encodes a forkhead transcription factor containing a polyalanine (polyAla) domain of 14 alanines. Expansions of the polyAla tract from 14 to 24 residues account for 30% of the reported mutations and lead mainly to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alanine
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Cytoplasm

Share to Eyelids

Share to Fluorescent Antibody Technique

Share to Forkhead Transcription Factors

Share to Peptides

Source

Open in PubMed Open full text

Identifiers

PMID: 15591279
DOI: 10.1136/jmg.2004.024356
PMCID: PMC1735658

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.PMID 15591279Read ↗

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

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.Semantic proximity Read ↗

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 ↗

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.Semantic proximity Read ↗

The mutations and potential targets of the forkhead transcription factor FOXL2.Semantic proximity Read ↗

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.Semantic proximity Read ↗

Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.Semantic proximity Read ↗

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.Semantic proximity Read ↗

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNASemantic proximity Read ↗

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.Semantic proximity Read ↗

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systemsSemantic proximity Read ↗

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.