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).
The genetic architecture of microphthalmia, anophthalmia and coloboma.
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.
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.
Clinical and experimental advances in congenital and paediatric cataracts.
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.
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.
Edinburgh, United Kingdom. In Orphanet J Rare Dis, 2006
FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients.