Further, Pax6 is specifically expressed in the lens placode through a combination of activation by Sox2, Oct-1, and Foxe3 in the surface ectoderm and inhibition by TGF[beta] and Wnt signaling in the periocular neural crest [47-51].
Carlsson, "Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage," Developmental Biology, vol.
Guo et al., "FOXE3
mutations predispose to thoracic aortic aneurysms and dissections," The Journal of Clinical Investigation, vol.
As a logical step toward developing this methodology, we targeted 2 gene promoters, TLX3 (T-cell leukemia homeobox 3)  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.SssI and serial dilution of the unmethylated and in vitro methylated amplicons.
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. The standard, commercially available, EpiTYPER[TM] scheme was used for analysis of 197 bone marrow smears from patients classified as leukemic (95 patients) or clear of the disease (88 remission, 12 follow-up, and 2 donors, 102 in total).
(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 (7p21.1) ve TGF02 (lq4l) vardir.
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.
Pax6 influences ocular surface development both directly by controlling the expression of different genes that play critical roles in the ocular surface and indirectly by controlling many other transcription factors including Six3, c-Maf, MafA/L-Maf, Prox1, Sox2, and Foxe3 that play important roles in the ocular surface (Figure 4) [3, 79, 99-105].
For example, Foxe3 is required for anterior segment morphogenesis and differentiation in a Pax6 gene dosage-dependent manner .