Pax6
- Known as:
- Pax6
- Catalog number:
- 000458A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Pax6
Related genes to: Pax6
- Gene:
- PAX6 NIH gene
- Name:
- paired box 6
- Previous symbol:
- AN2
- Synonyms:
- D11S812E, AN, WAGR
- Chromosome:
- 11p13
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: Pax6
AN2,Aniridia type II protein,Homo sapiens,Human,Oculorhombin,Paired box protein Pax-6,PAX6anti-PAX6anti-PAX6anti-PAX6anti-PAX6anti-PAX6 (1C8)Anti-PAX6 AntibodyAnti-PAX6 Monoclonal AntibodyAnti-Pax6 Purified 100 ugAnti-Pax6 Purified 25 uganti-PAX6 type: Primary antibodies host: Mouseanti-PAX6 type: Primary antibodies host: RabbitAntibodies: PAX6 (internal) HOST: Goat Clonality: pAbBos taurus,Bovine,Oculorhombin,Paired box protein Pax-6,PAX6Bovine paired box 6 (PAX6) ELISA kit, Species Bovine, Sample Type serum, plasma Related articles to: Pax6
- Approximately 5% to 10% of individuals with classic aniridia do not receive a molecular diagnosis after clinical testing for variants in PAX6 and its downstream regulatory region. - Source: PubMed
Publication date: 2026/05/14
Reis Linda MTomei JaredGallagher RyanMatter AndreaCarroll JosephBroeckel UlrichSemina Elena V - Craniofacial development requires precise coordination of epithelial patterning and morphogenesis. However, the molecular mechanisms governing olfactory epithelium development remain incompletely understood. Retinoic acid (RA) signaling and Gata3 have each been independently implicated in craniofacial morphogenesis, particularly in the formation of the primitive choanae, which constitute the opening between the nasal cavity and the oral cavity. Here, we generated a tamoxifen-inducible, genetically controlled compound mutant mouse model to simultaneously disrupt Rdh10, a rate-limiting enzyme for RA signaling, and Gata3 during early craniofacial development. We show that while deletion of Rdh10 following tamoxifen administration at E8.5 does not result in obvious craniofacial abnormalities, combined loss of Rdh10 and Gata3 leads to fully penetrant bilateral choanal atresia and severe defects in olfactory epithelium morphogenesis. Immunohistochemical analyses revealed a marked reduction in PAX6 and SIX1 positive cells and a concomitant expansion of SOX2 positive cells in compound mutant embryos. These results demonstrate that RA-Gata3 signaling cooperatively regulates olfactory epithelium development by controlling the balance between progenitor maintenance and lineage specification. We propose that the RA-Gata3 signaling pathway orchestrates a transcriptional network involving Pax6, Six1, and Sox2 to ensure proper epithelial patterning, branching morphogenesis, and choanae formation during early craniofacial development. - Source: PubMed
Matsushita AyakaTsujimoto TakayukiXiuping NieOmi-Sugihara MaikoXu LinMithun SahaNatsuyama ShotaOhara HarukaKoga SatoshiInubushi ToshihiroSandell Lisa LTrainor Paul AYamashiro TakashiKurosaka Hiroshi - The molecular circadian clock and melatonin secretion are pivotal for coordinating homeostasis pathways in many animals. Melatonin has been shown to regulate reproduction and neoblast proliferation in triclad flatworms, yet the extent to which these mechanisms operate in other platyhelminths remains unknown. We examined light sensing, endogenous melatonin production, and circadian control of asexual reproduction in the early-branching catenulid Stenostomum virginianum. Microscopy revealed refractile bodies with photoreceptor-like structures, blue-light autofluorescence, and PAX6 immunoreactivity in cells anterior to the brain that support the presence of a photoreceptive system. High-performance liquid chromatography detected endogenous melatonin production in S. virginianum. Exogenous melatonin administered under continuous darkness suppressed reproduction and neoblast mitosis. The same treatment applied at ZT 6 during a 12 h:12 h light-dark cycle failed to affect reproduction, implying a masking or circadian compensatory effect. Phylogenetic analysis identified two broadly conserved bHLH-PAS genes (ARNT) in a transcriptome for S. virginianum; although CLOCK and CRY were not detected, they are present in the closely related Macrostomum lignano, indicating that this absence may be due to an incomplete transcriptome. These findings suggest that circadian rhythms influence reproduction and cell division in S. virginianum, extending our understanding of melatonin-mediated, light-responsive regulation in distinct branches of the platyhelminths. - Source: PubMed
Publication date: 2026/05/08
Stanton Daniel LDeas Ian DSmith J KennonRobinson Samuel BReitzel Adam MSmith Julian P S - Corticotroph tumors (CTs) derive from the lineage and are functioning (FCTs) or nonfunctioning (NFCTs). In FCTs, the main pathogenic variants are found in enhancing proopiomelanocortin () transcription through epidermal growth factor receptor (EGFR) signaling, resulting in a higher secretion index compared with wild type (WT). POMC is cleaved by prohormone convertase 1/3, encoded by proprotein convertase subtilisin/kexin type 1 gene (), into ACTH. is inhibited by which in turn is inhibited by transcription factor paired box 6 (). We aimed to compare gene expressions involved in POMC processing among NFCTs, + FCTs, and WT FCTs. - Source: PubMed
Publication date: 2026/04/21
Lamback ElisaMiranda Renan LMendonça Laryssade Figueiredo Camila SSalum Kaio C RDezonne Rômulo SWildemberg Luiz EduardoGadelha Mônica R - : Early-onset high myopia (eoHM), defined as high myopia manifesting before 10 years of age, is largely attributed to genetic defects. This study aimed to investigate the genetic underpinnings of eoHM in a cohort of Chinese patients. : We recruited 64 Chinese patients with eoHM. Comprehensive clinical evaluations were performed, and whole exome sequencing (WES) was conducted to identify potential pathogenic variants. The genetic findings were analyzed and correlated with the clinical phenotypes. : A total of 64 unrelated Chinese patients with suspected early-onset high myopia were initially recruited. Following whole exome sequencing (WES) and variant annotation, final 37 patients with variants in known myopia-associated genes were included in the analytical cohort. The mean age of onset for the cohort was 5 years (IQR, 4-7), with a mean spherical equivalent refraction of -7 D (IQR, (-8)-(-6)). Genetic analysis revealed variants in 28 known myopia-associated genes. We identified pathogenic or likely pathogenic variants in 11 of the 37 patients (29.7%, 95%CI: 0.1737-0.4590), while the overall diagnostic yield was 17.2% (11/64, 95%CI: 0.0970-0.2839) in initial 64 recruited patients. These genes included seven well-established eoHM-related genes, such as ARR3, CACNA1F, P4HA2, TRPM1, COL11A1, COL2A1, and PAX6. Additionally, variants of uncertain significance (VUS) in seven other candidate genes were detected in patients with eoHM. : Our findings expand the genetic spectrum of eoHM and reinforce the critical role of genetic testing in its etiological diagnosis and clinical management. Observed patterns of genotype-phenotype associations are descriptive and should be considered hypothesis-generating, requiring validation in larger cohorts. Additionally, we identify several candidate genes that may serve as prospective biomarkers, though these findings require validation in larger cohorts and functional studies. - Source: PubMed
Publication date: 2026/03/29
Liu XueChu HuihuiSun YaruZhao HaixiaYu Jifeng