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This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. Zusätzlich bieten wir Ihnen FOXE3 Proteine (3) und FOXE3 Kits (1) und viele weitere Produktgruppen zu diesem Protein an.
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Data demonstrate that Foxe3 is necessary for lens development in zebrafish and that foxe3 lies genetically downstream of pitx3 (zeige PITX3 Antikörper) in a zebrafish lens development pathway.
foxe3 function is necessary for the execution of lens-specific gene expression and lens morphogenesis.
Although congenital aphakia (zeige PITX3 Antikörper) is known to be caused by mutations in the FOXE3 gene, the results of lack of coding mutation in this patient suggests a possible genetic heterogeneity of the disease.
Only one novel missense mutation in exon 1 of FOXE3 (Chr1:47,882,459, c.472G>C, p.Gly158Arg) was identified being homozygous in the three affected and heterozygous in the two unaffected, which was confirmed by Sanger sequencing.
FOXE3 mutations lead to a reduced number of aortic smooth muscle cells (SMCs) during development and increased SMC (zeige DYM Antikörper) apoptosis in the ascending aorta in response to increased biomechanical forces.
This is the first functional evidence demonstrating that FOXE3 mutations identified in patients impair protein function with differential effects.
Our results indicate that the FOXE3 p.Val201Met allele is associated with eye defects (OR = 3.5), suggesting its involvement as an ocular malformation risk factor.
This study demonstrates that a cluster of patients with sclerocornea, aphakia (zeige PITX3 Antikörper), and microphthalmia in a small Mexican village is due to a FOXE3 p.Y98H founder mutation.
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.
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.
Autosomal-dominant mutations within FOXE3 cause anterior segment dysgenesis and has important clinical utility, especially for the diagnosis of mildly affected patients.
Using autoantibodies from systemic sclerosis (SSc (zeige CYP11A1 Antikörper)) patients, two anti-CENP-A (zeige CENPA Antikörper)-specific motifs were defined in its immunodominant epitope Ap17 (zeige AP2S1 Antikörper)-30. One of these motifs matched residues 53-62 of FOXE3, a protein not previously implicated in SSc (zeige CYP11A1 Antikörper).
These results clearly show that the development of early-onset cataracts requires at least two mutant alleles of Foxe3(rct) and Pde6b(rd1 (zeige PDE6B Antikörper)), and another modifier associated with the severity of cataract phenotypes in Foxe3(rct) mice underlies the genetic backgrounds in mice.
The Hedgehog (zeige SHH Antikörper) pathway with its member Smoothened is required during a discrete embryonic period (E9.5-E12.5) in lens development to regulate lens epithelial cell proliferation, survival and FoxE3 expression.
Foxe3 as a transcriptional target of Pitx3 (zeige PITX3 Antikörper) explains at least in part some of the phenotypic similarities of the ak and dyl mice (dysgenic lens, a Foxe3 allele).
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.
the ectopic activation of downstream effectors of the hedgehog (zeige SHH Antikörper) 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.
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 (zeige CISH Antikörper)-acting regulatory element
Foxe3 promoter was activated by Sip1 (zeige ZEB2 Antikörper)
targeted disruption of Foxe3 results in abnormal development of the eye. Cells of the anterior lens epithelium show a decreased rate of proliferation, resulting in a smaller than normal lens.
early Foxe3 expression is sensitive to halved Pax6 (zeige PAX6 Antikörper) gene dosage & there is phenotypic similarity between Pax6 (zeige PAX6 Antikörper) & Foxe3 mutants; we propose that many ocular malformations associated with Pax6 (zeige PAX6 Antikörper) haploinsufficiency are consequences of reduced Foxe3 expression
Proper inactivation of FoxE3 expression at the lens equator is important for many aspects of fiber differentiation, and persistent expression leads to a partial epithelialization of fiber cells, with severe consequences for lens function.
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.
forkhead box protein E3
, forkhead box E3
, forkhead, drosophila, homolog-like 12
, forkhead-related protein FKHL12
, forkhead-related transcription factor 8
, Rinshoken cataract
, dysgenetic lens
, hepatocyte nuclear factor 3 forkhead homolog 7
, forkhead box protein E4
, forkhead protein lens1