ArticleActa neuropathologica2015
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
Article in Acta neuropathologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Pooled it
- Advancements in differentiation of induced pluripotent stem cells into specialized neuronal subtypes.Neural regeneration research · 2026Article
- CRISPR/Cas9-mediatedFrontiers in physiology · 2026Article
- Nalfurafine reverses fentanyl-induced muscle rigidity and respiratory depression without affecting sedation in rats: decoupling respiration from sedation.Journal of applied physiology (Bethesda, Md. : 1985) · 2025Article
- Generation of locus coeruleus norepinephrine neurons from human pluripotent stem cells.Nature biotechnology · 2024Article
- Genetic identification of medullary neurons underlying congenital hypoventilation.Science advances · 2024Article
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- Etonogestrel Administration Reduces the Expression of PHOX2B and Its Target Genes in the Solitary Tract Nucleus.International journal of molecular sciences · 2022Article
- Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.Translational pediatrics · 2021Article
- Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non-cell autonomous developmental mechanisms.Brain pathology (Zurich, Switzerland) · 2021Article
- Respiratory Control by Phox2b-expressing Neurons in a Locus Coeruleus-preBötzinger Complex Circuit.Neuroscience bulletin · 2021Article
- Neuropathologists play a key role in establishing the extent of COVID-19 in human patients.Free neuropathology · 2020Article
- Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS).Frontiers in neuroscience · 2020Review
- Revisiting the Neuropathology of Sudden Infant Death Syndrome (SIDS).Frontiers in neurology · 2020Article
- The role of PHOX2B-derived astrocytes in chemosensory control of breathing and sleep homeostasis.The Journal of physiology · 2019Article
- Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Brainstem catecholaminergic neurones and breathing control during postnatal development in male and female rats.The Journal of physiology · 2018Article
- Breathing regulation and blood gas homeostasis after near complete lesions of the retrotrapezoid nucleus in adult rats.The Journal of physiology · 2018Article
- Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.American journal of medical genetics. Part A · 2018Article
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Authors and funding
20 authors at 8 institutions in 1 country.
Funding
Abstract
Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem neonatal-lethal cases with confirmed polyalanine repeat expansion (PARM) or Non-PARM (PHOX2B∆8) mutation of PHOX2B. Both human cases showed neuronal losses within the locus coeruleus (LC), which is important for central noradrenergic signaling. Using a conditionally active transgenic mouse model of the PHOX2B∆8 mutation, we found that early embryonic expression (<E10.5) caused failure of LC neuronal specification and perinatal respiratory lethality. In contrast, later onset (E11.5) of PHOX2B∆8 expression was not deleterious to LC development and perinatal respiratory lethality was rescued, despite failure of chemosensor retrotrapezoid nucleus formation. Our findings indicate that early-onset mutant PHOX2B expression inhibits LC neuronal development in CCHS. They further suggest that such mutations result in dysregulation of central noradrenergic signaling, and therefore, potential for early pharmacologic intervention in humans with CCHS.
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