{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T09:14:04Z","timestamp":1790327644954,"version":"4.1.0"},"reference-count":79,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"25","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2024,6,21]]},"abstract":"<jats:p>\n            Mutations in the transcription factors encoded by\n            <jats:italic>PHOX2B<\/jats:italic>\n            or\n            <jats:italic>LBX1<\/jats:italic>\n            correlate with congenital central hypoventilation disorders. These conditions are typically characterized by pronounced hypoventilation, central apnea, and diminished chemoreflexes, particularly to abnormally high levels of arterial PCO\n            <jats:sub>2<\/jats:sub>\n            . The dysfunctional neurons causing these respiratory disorders are largely unknown. Here, we show that distinct, and previously undescribed, sets of medullary neurons coexpressing both transcription factors (dB2 neurons) account for specific respiratory functions and phenotypes seen in congenital hypoventilation. By combining intersectional chemogenetics, intersectional labeling, lineage tracing, and conditional mutagenesis, we uncovered subgroups of dB2 neurons with key functions in (i) respiratory tidal volumes, (ii) the hypercarbic reflex, (iii) neonatal respiratory stability, and (iv) neonatal survival. These data provide functional evidence for the critical role of distinct medullary dB2 neurons in neonatal respiratory physiology. In summary, our work identifies distinct subgroups of dB2 neurons regulating breathing homeostasis, dysfunction of which causes respiratory phenotypes associated with congenital hypoventilation.\n          <\/jats:p>","DOI":"10.1126\/sciadv.adj0720","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T17:58:38Z","timestamp":1718819918000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":10,"title":["Genetic identification of medullary neurons underlying congenital hypoventilation"],"prefix":"10.1126","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4453-3601","authenticated-orcid":true,"given":"Ke","family":"Cui","sequence":"first","affiliation":[{"name":"The Brainstem Group, Institute for Cell Biology and Neurobiology, Charit\u00e9 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4554-2099","authenticated-orcid":true,"given":"Yiling","family":"Xia","sequence":"additional","affiliation":[{"name":"The Brainstem Group, Institute for Cell Biology and Neurobiology, Charit\u00e9 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7141-8573","authenticated-orcid":true,"given":"Abhisarika","family":"Patnaik","sequence":"additional","affiliation":[{"name":"The Brainstem Group, Institute for Cell Biology and Neurobiology, Charit\u00e9 Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, 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