{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTCF4 is a highly conserved basic helix‐loop‐helix (bHLH) transcription factor with pivotal roles in neurodevelopment and brain function. Studies have demonstrated that reduced TCF4 dosage causes Pitt–Hopkins syndrome—a severe neurodevelopmental disorder marked by intellectual disability and characteristic facial dysmorphism—while common variants and regulatory polymorphisms in TCF4 have been robustly associated with schizophrenia, bipolar disorder, and related cognitive deficits. In diverse experimental systems, TCF4 is shown to orchestrate complex transcriptional networks that guide neuronal differentiation, corticogenesis, and synaptic function, and these alterations are reflected in measurements of sensorimotor and sensory gating in both patients and animal models."}, {"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": "\nIn addition to its roles in the nervous system, TCF4 (also known in some contexts as E2‐2) is critical for immune cell lineage specification. It functions as a master regulator in the differentiation and function of plasmacytoid dendritic cells (pDCs), where its expression is both necessary and sufficient to activate pDC‐specific gene programs. Moreover, aberrant TCF4 expression serves as a reliable diagnostic marker in hematologic malignancies such as blastic plasmacytoid dendritic cell neoplasm, highlighting its importance in both normal innate immunity and oncogenic transformation of immune cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "17", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nTCF4 is also strongly implicated in ocular disease, particularly Fuchs’ endothelial corneal dystrophy (FECD). A series of genetic studies across multiple populations have revealed that intronic CTG/CAG repeat expansions and associated splicing abnormalities in TCF4 confer a markedly increased risk for FECD. These discoveries suggest that toxic RNA gain‐of‐function, disrupted transcriptional regulation, and perhaps even repeat‐associated non‐AUG (RAN) translation mechanisms underlie corneal endothelial cell dysfunction. Together, these findings have established TCF4 as a major genetic determinant in the pathogenesis of FECD."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "33"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established roles in neurodevelopment and immunity, TCF4 intersects with additional signaling cascades in other disease contexts. In several oncologic settings, for example, TCF4 participates in the modulation of Wnt/β‐catenin signaling by forming transcriptional complexes with partners such as TEAD4, thereby influencing the transcription of oncogenes in colorectal and glioma‐initiating cells. Furthermore, emerging evidence suggests that TCF4 may be implicated in degenerative conditions like osteoarthritis via interactions with long noncoding RNAs. These findings underscore the multifaceted regulatory capacity of TCF4 across tissues and disease processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "34", "end_ref": "37"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Antje Brockschmidt, Unda Todt, Soojin Ryu, et al. 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