Papers on
Foxe3
Role of G-quadruplex located at 5' end of mRNAs.Maiti et al., 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.Calvas et al., 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.FitzPatrick et al., 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.
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Fitzpatrick et al., 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.
Absence of NR2E1 mutations in patients with aniridia.Simpson et al., 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.Graw et al., 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.
Mouse models of cataract.Graw, 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.Fitzpatrick et al., Edinburgh, United Kingdom. In Orphanet J Rare Dis, 2006
FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients.