About this Research Topic
Phox2b is a transcription factor critically involved in the development and function of the autonomic nervous system, playing a vital role in neural differentiation, autonomic system formation, and respiratory rhythmogenesis. Its influence extends beyond early development, with significant roles in adulthood and potential implications for various diseases. Mutations of Phox2b, including Polyalanine repeat mutations (PARMs) and non-PARMs (NPARMs), have been linked to several neurodevelopmental disorders, including congenital central hypoventilation syndrome (CCHS), neuroblastoma, and Hirschsprung disease (HSCR). Additionally, common and hypomorphic PHOX2B variants may be associated with brief resolved unexplained events (BRUE), sudden infant death syndrome (SIDS), neuroblastoma, and isolated HSCR, underscoring Phox2b as a central player in neural development and maintenance.
Despite its foundational impact on brainstem and autonomic function, many questions remain regarding Phox2b's long-term roles across the lifespan and its implications in neurodevelopmental disorders and autonomic dysfunction, and related disorders.
This Research Topic seeks to explore Phox2b’s roles from embryonic development through adult physiology and autonomic disorders. We aim to foster a multidisciplinary dialogue that integrates molecular biology, physiology, neuroscience, and clinical research to provide a comprehensive view of Phox2b function and regulation. We welcome research articles, reviews, and perspectives that cover, but are not limited to, the following themes:
1. Developmental Role of Phox2b:
• Mechanisms of Phox2b-mediated neural differentiation and specification.
• Interaction of Phox2b with other transcriptional regulators during neurogenesis.
• Phox2b’s function in the formation and maturation of the autonomic nervous system.
• Comparative studies on Phox2b mutations and their effects on neurodevelopment.
2. Phox2b in Postnatal and Adult Autonomic Control:
• Functions of Phox2b in maintaining respiratory and autonomic system stability.
• Phox2b's role in stress responses, cardiovascular regulation, and thermoregulation.
• Insights into Phox2b-mediated circuits and networks in the adult brainstem.
• Genetic and environmental influences on Phox2b expression and function in adults.
3. Molecular Mechanisms and Pathways Associated with Phox2b:
• Downstream targets and pathways regulated by Phox2b in neurons.
• Discoveries on Phox2b-binding sites and regulatory motifs influencing gene expression.
• The molecular basis of Phox2b-related neural disorders and emerging therapeutic targets.
4. Phox2b and Disease Pathology:
• Phox2b mutations and their clinical manifestations across different age groups.
• Impacts of Phox2b dysfunction on respiratory and autonomic disorders, including Congenital Central Hypoventilation Syndrome (CCHS).
• Genetic and epigenetic regulation of Phox2b and implications for targeted therapies.
5. Therapeutic Potential:
• Therapeutic strategies for Phox2b-related pathologies, including gene therapy, stem cell approaches, and pharmacological interventions.
• Perspectives on the translational potential of Phox2b research in clinical practice
By consolidating recent discoveries and fostering discussions on Phox2b’s multifaceted roles, we hope this Research Topic will serve as a comprehensive resource, advancing our understanding of Phox2b's diverse roles in neurodevelopment, adult physiology and diseases. Ultimately, we hope it will pave the way for identifying new avenues for future research.
Despite its foundational impact on brainstem and autonomic function, many questions remain regarding Phox2b's long-term roles across the lifespan and its implications in neurodevelopmental disorders and autonomic dysfunction, and related disorders.
This Research Topic seeks to explore Phox2b’s roles from embryonic development through adult physiology and autonomic disorders. We aim to foster a multidisciplinary dialogue that integrates molecular biology, physiology, neuroscience, and clinical research to provide a comprehensive view of Phox2b function and regulation. We welcome research articles, reviews, and perspectives that cover, but are not limited to, the following themes:
1. Developmental Role of Phox2b:
• Mechanisms of Phox2b-mediated neural differentiation and specification.
• Interaction of Phox2b with other transcriptional regulators during neurogenesis.
• Phox2b’s function in the formation and maturation of the autonomic nervous system.
• Comparative studies on Phox2b mutations and their effects on neurodevelopment.
2. Phox2b in Postnatal and Adult Autonomic Control:
• Functions of Phox2b in maintaining respiratory and autonomic system stability.
• Phox2b's role in stress responses, cardiovascular regulation, and thermoregulation.
• Insights into Phox2b-mediated circuits and networks in the adult brainstem.
• Genetic and environmental influences on Phox2b expression and function in adults.
3. Molecular Mechanisms and Pathways Associated with Phox2b:
• Downstream targets and pathways regulated by Phox2b in neurons.
• Discoveries on Phox2b-binding sites and regulatory motifs influencing gene expression.
• The molecular basis of Phox2b-related neural disorders and emerging therapeutic targets.
4. Phox2b and Disease Pathology:
• Phox2b mutations and their clinical manifestations across different age groups.
• Impacts of Phox2b dysfunction on respiratory and autonomic disorders, including Congenital Central Hypoventilation Syndrome (CCHS).
• Genetic and epigenetic regulation of Phox2b and implications for targeted therapies.
5. Therapeutic Potential:
• Therapeutic strategies for Phox2b-related pathologies, including gene therapy, stem cell approaches, and pharmacological interventions.
• Perspectives on the translational potential of Phox2b research in clinical practice
By consolidating recent discoveries and fostering discussions on Phox2b’s multifaceted roles, we hope this Research Topic will serve as a comprehensive resource, advancing our understanding of Phox2b's diverse roles in neurodevelopment, adult physiology and diseases. Ultimately, we hope it will pave the way for identifying new avenues for future research.
Keywords: Phox2b, autonomic nervous system, brainstem, development, congenital central hypoventilation syndrome (CCHS), autonomic dysfunction, autonomic disorders
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