FOXE3

FOXE3

An intronless gene on chromosome 1p32 that encodes a member of the forkhead family of transcription factors, specifically a lens-specific transcription factor, which plays a key role in vertebrate lens formation.

Molecular pathology
FOXE3 mutations are linked to anterior segment mesenchymal dysgenesis and congenital primary aphakia.
References in periodicals archive ?
As a logical step toward developing this methodology, we targeted 2 gene promoters, TLX3 (T-cell leukemia homeobox 3) [10] and FOXE3 (forkhead box E3), which displayed the largest differential methylation between pediatric ALL patients and nonleukemic controls in validation experiments (8).
Additionally, we prepared reference materials for the promoter regions of TLX3 and FOXE3 by PCR amplification of FOXE3 and TLX3 promoter regions using human genomic DNA (Sigma) followed by in vitro methylation using M.
Three different schemes, all based on detection by MALDI-TOF mass spectrometry, were used for evaluation of the methylation level of the promoter regions of TLX3 and FOXE3.
Converted combined TLX3 and FOXE3 reference materials (5 [micro]L, 20 000 copies/[micro]L) were added to 37.
For patient samples, 12 fragments were measured for FOXE3 covering 19 CpG sites and 13 fragments for TLX3 covering 26 CpG sites.
50, implying that a very high proportion of the cell population present in the bone marrow aspirates contained hypermethylated CpG loci at FOXE3 and TLX3 promoters.
Seven of the 10 TLX3 false-negative values and 4 of the 9 FOXE3 values were close to the 0.
14) PYFX2 ve FOXC1 genlerinin yani sira, PAX6, FOXE3 ve CYP1B1 genlerinin de on segment disgenezisi ile iliskili olduklari bildirilmistir.
27) Bircok kromozomun anomalileriyle birlikte bildirilen bu anomaliyle iliskili genler arasinda PITX2, FOXE3, CYP1B115 ve digenik kalitimla hastaliga neden olan HDAC9 (7p21.
63) Saydamligi ve dolayisiyla islevi hucrelerinin hidrasyonu ve hacmiyle dogrudan ilgili olan lenste nutrisyon, hidrasyon ve atik urunlerin uzaklastirilmasi gibi gorevleri olan major intrinsik protein, konneksinler ve lens intrinsik membran protein 2'yi kodlayan genletdeki (MIP, GJA3, GJA8, LIM2) mutasyonlar da bu islevleri bozarak kataraktogenezde rol alirlar (63) Lensin embriyolojik gelisiminde gorev yapan bircok ttansktipsiyon faktorunu kodlayan genlerdeki (PITX3, PAX6, FOXE3, EYA1, MAF, HSF4) mutasyonlar da katataktla iliskilendirilmistir.
A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.