GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 19 Aug 2016.
Forkhead box E3
Foxe3
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009] (from
NCBI)
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Top mentioned proteins:
Pax6, CAN, Sox2, MAF, Otx2
Papers on
Foxe3
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.
Review
New
Pittsburgh, United States. In Cornea, Oct 2015
If the lens fails to form or forms partially, the gene involved is FOXE3, which is a lens gene.
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
New
Milwaukee, United States. In Eur J Hum Genet, Aug 2015
A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology.
Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.
New
London, United Kingdom. In Hum Mutat, Mar 2015
Mutations in FOXE3 are associated with both recessive and dominant inheritance of severe anterior ocular malformations and glaucoma.
A CpG-methylation-based assay to predict survival in clear cell renal cell carcinoma.
Xinhui, China. In Nat Commun, 2014
Moreover, methylation at the five CpGs correlates with expression of five genes: PITX1, FOXE3, TWF2, EHBP1L1 and RIN1.
Role of G-quadruplex located at 5' end of mRNAs.
Delhi, India. In Biochim Biophys Acta, 2014
RESULTS: PG4 sequences in 5' UTR of AKT interacting protein (AKTIP), cathepsin B (CTSB) and forkhead box E3 (FOXE3) mRNAs form G-quadruplex whereas it is unable to form G-quadruplex in apolipoprotein A-I binding protein (APOA1BP).
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Toulouse, France. In Clin Genet, 2014
We screened seven AM genes [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired box 6), RAX (retina and anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box 2), and VSX2 (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM.
The genetic architecture of microphthalmia, anophthalmia and coloboma.
Review
Edinburgh, United Kingdom. In Eur J Med Genet, 2014
This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1.
Validation of DNA methylation biomarkers for diagnosis of acute lymphoblastic leukemia.
Melbourne, Australia. In Clin Chem, 2014
METHODS: We evaluated DNA methylation of promoter regions of TLX3 (T-cell leukemia homeobox) and FOXE3 (forkhead box E3) in bone marrow biopsies from 197 patients classified as leukemic (n = 95) or clear of the disease (n = 102) by MALDI-TOF.
A role for smoothened during murine lens and cornea development.
Melbourne, Australia. In Plos One, 2013
Mutant lenses were smaller and showed normal expression of p57Kip2, c-Maf, E-cadherin and Pax6, reduced expression of FoxE3 and Ptch1 and decreased nuclear Hes1.
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Rostock, Germany. In Mol Genet Genomic Med, 2013
The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome-wide array-based copy number assessment.
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.
Mexico. In Mol Vis, 2012
Molecular analysis of the previously identified Forkhead box protein E3 (FOXE3) mutation, c.292T>C (p.Y98H), was performed with PCR amplification and direct DNA sequencing.
Growth inhibition of human lens epithelial cells by short hairpin RNA in transcription factor forkhead box E3 (FOXE3).
GeneRIF
Qingdao, China. In Graefes Arch Clin Exp Ophthalmol, 2012
shRNA-mediated gene silencing of FOXE3 could significantly inhibit cell growth and induce the G1-phase arrest in human lens epithelial cell line-3 cells.
Activation of the hedgehog signaling pathway in the developing lens stimulates ectopic FoxE3 expression and disruption in fiber cell differentiation.
GeneRIF
Hamilton, Canada. In Invest Ophthalmol Vis Sci, 2012
the ectopic activation of downstream effectors of the hedgehog signaling pathway in the mouse lens disrupts normal fiber cell differentiation by a mechanism consistent with a sustained epithelial cellular developmental program driven by FoxE3.
Loss of Msx2 function down-regulates the FoxE3 expression and results in anterior segment dysgenesis resembling Peters anomaly.
GeneRIF
China. In Am J Pathol, 2012
The observed changes in the expression of FoxE3 suggest that Msx2 is an important contributor in controlling transcription of target genes critical for early eye development.
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice.
GeneRIF
Abashiri, Japan. In Mamm Genome, 2011
cataracts in rct mice are caused by reduced Foxe3 expression in the lens and this decreased expression is a result of a deletion in a cis-acting regulatory element
Absence of NR2E1 mutations in patients with aniridia.
Vancouver, Canada. In Mol Vis, 2011
In addition, the coding region and flanking intronic sequences of FOXE3, FOXC1, PITX2, CYP1B1, PAX6, and B3GALTL were sequenced in one patient and his relatives.
Clinical and experimental advances in congenital and paediatric cataracts.
Review
Bristol, United Kingdom. In Philos Trans R Soc Lond B Biol Sci, 2011
Much of our knowledge about the underlying mechanisms of cataractogenesis has come from the genetic analysis of affected families: there are contributions from genes coding for transcription factors (such as FoxE3, Maf, Pitx3) and structural proteins such as crystallins or connexins.
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
GeneRIF
San Francisco, United States. In Bmc Med Genet, 2010
The FOXE3 mutation detected in c.601 G > A, predicting p.Val201Met which were not yet been included in public databases, but has previously been reported in both A/M patients.
Mouse models of cataract.
Review
München, Germany. In J Genet, 2009
In this review, several mouse models will be discussed with emphasis on the underlying genetic basis rather than the morphological features as exemplified by the following: (i) the most frequent mutations in congenital cataracts affect genes coding for gamma-crystallins (gene symbol: Cryg); (ii) some postnatal, progressive cataracts have been characterized by mutations in the beta-crystallin encoding genes (Cryb); (iii) mutations in genes coding for membrane proteins like MIP or connexins lead to congenital cataracts; (iv) mutations in genes coding for transcription factors such as FoxE3, Maf, Sox1, and Six5 cause cataracts; (v) mouse models suffering from hereditary age-related cataracts (e.g.
Anophthalmia and microphthalmia.
Review
Edinburgh, United Kingdom. In Orphanet J Rare Dis, 2006
FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients.
