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Article

Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia.

eLife - 17 Nov 2022

Ferreira Caroline B, Silva Talita M, Silva Phelipe E, Castro Claudio L, Czeisler Catherine, Otero José J, Takakura Ana C, Moreira Thiago S

Abstract excerpt

Mutations in the transcription factor Phox2b cause congenital central hypoventilation syndrome (CCHS). The syndrome is characterized by hypoventilation and inability to regulate breathing to maintain adequate O2 and CO2 levels. The mechanism by which CCHS impact respiratory control is incompletely understood, and even less is known about the impact of the non-polyalanine repeat expansion mutations (NPARM) form....

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Identifiers

PMID: 36394266
DOI: 10.7554/eLife.73130
PMCID: PMC9683783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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