{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPAX9 is a paired‐box transcription factor that plays an essential role in early odontogenesis and craniofacial development. Multiple studies have shown that it is robustly expressed in the dental mesenchyme, where it helps to orchestrate the sequential stages of tooth formation. Mutations in PAX9—including missense changes, deletions, frameshifts and alterations of the initiation codon—lead to heterogeneous non‐syndromic tooth agenesis (oligodontia/hypodontia) by impairing DNA binding and transcriptional activation. In several families, such alterations are associated with a predominant loss of posterior teeth, while even subtle changes in gene dosage influence tooth number and positioning, highlighting a haploinsufficiency model as the underlying pathogenic mechanism."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, the function of PAX9 is mediated by its evolutionarily conserved paired DNA‐binding domain, which is critical for the activation of downstream effector genes involved in tooth patterning and morphogenesis. Detailed functional analyses have demonstrated that disease‐causing mutations in PAX9 often disrupt its ability to bind target sequences and to interact efficiently with other transcriptional regulators—such as MSX1 and co‐repressors like PLU‐1. These impairments not only lead to a loss of transcriptional activity but also perturb the fine balance governing tooth size, shape, and number. Genetic studies further suggest that alterations in the regulatory network of PAX9 contribute to variability in dental phenotypes through both dosage effects and synergistic interactions with other odontogenic genes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "17", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its central role in dental development, PAX9 is also implicated in broader craniofacial and epithelial processes. Altered expression or mutations in PAX9 have been linked to orofacial clefting phenotypes and may contribute to aberrant differentiation in non‐dental tissues, such as the developing lung and esophageal epithelia. In these contexts, PAX9 appears to participate in intricate gene networks that modulate tissue patterning and differentiation, and its dysregulation is emerging as a factor in certain oncogenic processes. Such findings underscore the context‐dependent roles of PAX9, not only as a master regulator of odontogenesis but also as a key player in craniofacial morphogenesis and epithelial cell fate decisions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "29", "end_ref": "35"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Parimal Das, David W Stockton, Christopher Bauer, et al. 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