FOXE3 antibody - N-terminal region (ARP31700_P050)
- Known as:
- FOXE3 (anti-) - N-terminal region (ARP31700_P050)
- Catalog number:
- arp31700_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- FOXE3 antibody - N-terminal region (ARP31700_P050)
Related genes to: FOXE3 antibody - N-terminal region (ARP31700_P050)
- Gene:
- FOXE3 NIH gene
- Name:
- forkhead box E3
- Previous symbol:
- FKHL12
- Synonyms:
- FREAC8
- Chromosome:
- 1p33
- Locus Type:
- gene with protein product
- Date approved:
- 1995-06-05
- Date modifiied:
- 2016-10-05
Related products to: FOXE3 antibody - N-terminal region (ARP31700_P050)
Related articles to: FOXE3 antibody - N-terminal region (ARP31700_P050)
- The TALE homeodomain transcription factors Meis1 and Meis2 are broadly co-expressed during vertebrate organogenesis. They serve as critical regulators of early mouse lens morphogenesis at the lens placodal stage; however, their cooperative roles in subsequent lens morphogenesis remain unknown. Using a BAC-derived Foxe3-Cre driver active in proliferating anterior lens epithelium from embryonic stage E10.5, we conditionally ablated Meis1 and Meis2 individually and in combination and analyzed ocular development from E11.5 to postnatal day P21. Double mutants exhibited early-onset lens hypoplasia and epithelial disorganization detectable by E12.5, progressing to striking postnatal phenotypes characterized by small, highly vacuolated, triangular lenses that frequently detached and floated within malformed anterior segments. At mid-gestation, double mutants showed elevated apoptosis in the emerging lens epithelium and aberrant cell-cycle activity within primary fiber cells. Furthermore, levels of Pax6, FoxE3, Prox1, and Sox1 proteins in lens epithelium were reduced, while Sox2 was ectopically expressed. Junctional and epithelial integrity defects included central loss of ZO-1 and induction of α-smooth muscle actin, while N-cadherin levels were largely unchanged. Anterior segment abnormalities encompassed absence of the anterior chamber and iris-cornea adhesions. By contrast, Meis1-only mutants displayed variable lens and anterior segment defects, including a "big eye" phenotype with optic nerve and retinal ganglion cell abnormalities, whereas Meis2-only mutants were largely normal. These findings identify stage-selective, cooperative functions of Meis1 and Meis2 that maintain Pax6 expression, epithelial integrity, and growth, revealing novel Meis1/2-dependent pathways that are essential for advanced lens morphogenesis. - Source: PubMed
Publication date: 2026/04/16
Smolikova JanaAntosova BarboraLachova JitkaCvekl AlesKozmik Zbynek - A 3-month-old female infant from South India presented with microphthalmia and features suggestive of primary ciliary dyskinesia (PCD). She was born to a third-degree consanguineous couple and showed signs of breathing difficulty at birth, frequent respiratory infections, bilateral microphthalmia, hypertelorism, a flat nasal bridge, rounded lips, crackles in the lungs, and situs inversus. Whole exome sequencing revealed homozygous pathogenic mutations in two genes: a frameshift mutation in Dynein Axonemal Heavy Chain 5 (), linked to PCD, and a null mutation in Forkhead Box E3 (), associated with eye developmental disorders such as microphthalmia and primary aphakia. encodes a forkhead transcription factor critical for lens development, while is essential for the function of motile cilia. Both variants were classified as pathogenic per American College of Medical Genetics and Genomics guidelines. The recurrence risk was estimated at 25% in future pregnancies and genetic counselling was provided. - Source: PubMed
Publication date: 2026/02/13
Krishnamurthy AshaVerma AnandBiswas SayanJoy Praisy - FOXE3 encodes a highly conserved, lens-enriched transcription factor essential for eye development. Biallelic mutations in FOXE3 are associated with a spectrum of ocular anomalies, ranging from congenital cataracts to complex microphthalmia (CM), with severity and penetrance correlating with genotype. This study aimed to investigate the regulatory landscape of FOXE3 and its contribution to CM. - Source: PubMed
Plaisancié JulieAngée ClémentineErjavec ElisaRaymond-Letron IsabelleDouet Jean-YvesGoetz MathildeVincent-Delorme CatherineKaremaker Ino DBaltissen MarijkeVermeulen MichielValdivia LeonardoJabot-Hanin FabienneDavid PierreHadjadj DjihadMonsef Yanad AbouLyazrhi FaouziCalvas PatrickRozet Jean-MichelChassaing NicolasFares-Taie Lucas - Anterior segment dysgeneses (ASDs) are a heterogeneous group of ocular developmental anomalies commonly associated with severe visual disability in pediatric age. Here, we report the generation of the iPSC line IOCVi002-A from a patient with a homozygous pathogenic c.292 T > C (p.(Y98H)) variant in the FOXE3 gene causing an ASD phenotype characterized by sclerocornea and aphakia. IOCVi002-A cells shows normal morphology, typical stemness and pluripotency. This iPSC line can be used for in vitro disease modeling for developmental ocular anomalies affecting anterior structures of the eye. - Source: PubMed
Publication date: 2025/08/22
Nava JessicaGalvez-Romero GuillermoMora-Roldan GermanParada-Parra Oscar JHernandez-Cruz ArturoZenteno Juan Carlos - Anophthalmia/microphthalmia (A/M) are rare congenital ocular malformations involving the absence or underdevelopment of the eyes, and they display considerable clinical and genetic heterogeneity. Establishing a genetic diagnosis for A/M is critical because it facilitates early intervention, informed genetic counseling, and the prevention of disease transmission in high-risk families. This study explored the genotypic and phenotypic landscape of A/M in 10 Pakistani families meeting specific criteria: confirmed A/M phenotype, residence in Khyber Pakhtunkhwa, no prior genetic testing, and informed consent. Whole-exome sequencing (WES) and segregation analysis in families identified a novel missense variant in SMOC1 (c.406T>G, p.Cys136Gly) in a family with Waardenburg anophthalmia syndrome (WAS). Additionally, causative variants in VSX2 (c.598C>T, p.Arg200Ter) and ALDH1A3 (c.172dup, p.Glu58GlyfsTer5) were detected, potentially representing founder variants in the Pashtun ethnic group. Moreover, a likely pathogenic variant in FOXE3 (c.145G>T, p.Gly49Ter) and a variant of uncertain significance in STRA6 (c.1399C>T, p.Arg467Cys), which exhibited incomplete penetrance, were also identified. In addition, segregation analysis of the causal genetic variants in the 5 families revealed a carrier frequency of 60.86% among the phenotypically unaffected family members. Notably, the average size of autozygous regions among probands was substantial (282.62 Mb), indicating a high degree of consanguinity and familial relatedness due to endogamous practices. However, no causative variants were identified in five families, each with a single affected member, with unilateral A/M in the majority of cases. These findings support the value of genetic diagnostics in reproductive counseling and highlight the utility of broader genomic approaches to improve diagnostic outcomes in unresolved cases. - Source: PubMed
Publication date: 2025/08/18
Dawood MuhammadJi XinranShah Irfan UKhan NiamatXue ShifengSaleha Shamim