Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non-cell autonomous developmental mechanisms.

doi:10.1111/bpa.12877

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Article

Neonatal apneic phenotype in a murine congenital central hypoventilation syndrome model is induced through non-cell autonomous developmental mechanisms.

Brain pathology (Zurich, Switzerland) - 1 Jan 2021

Alzate-Correa Diego, Mei-Ling Liu Jillian, Jones Mikayla, Silva Talita M, Alves Michele Joana, Burke Elizabeth, Zuñiga Jessica, Kaya Behiye, Zaza Giuliana, Aslan Mehmet Tahir, Blackburn Jessica, Shimada Marina Y, Fernandes-Junior Silvio A, Baer Lisa A, Stanford Kristin I, Kempton Amber, Smith Sakima, Szujewski Caroline C, Silbaugh Abby, Viemari Jean-Charles, Takakura Ana C, Garcia Alfredo J, Moreira Thiago S, Czeisler Catherine M, Otero José J

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) represents a rare genetic disorder usually caused by mutations in the homeodomain transcription factor PHOX2B. Some CCHS patients suffer mainly from deficiencies in CO2 and/or O2 respiratory chemoreflex, whereas other patients present with full apnea shortly after birth. Our goal was to identify the neuropathological mechanisms of apneic presentations in CCHS. In...

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Identifiers

PMID: 32654284
DOI: 10.1111/bpa.12877
PMCID: PMC7881415

Genes

PHOX2B

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Source receipt: pubmed, retrieved 7 Sept 2026.

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