Article
Genetic identification of medullary neurons underlying congenital hypoventilation.
Science advances - 21 Jun 2024
Cui Ke, Xia Yiling, Patnaik Abhisarika, Salivara Aikaterini, Lowenstein Elijah D, Isik Eser G, Knorz Adrian L, Airaghi Laura, Crotti Michela, Garratt Alistair N, Meng Fanqi, Schmitz Dietmar, Studer Michèle, Rijli Filippo M, Nothwang Hans G, Rost Benjamin R, Strauß Ulf, Hernandez-Miranda Luis R
Abstract excerpt
Mutations in the transcription factors encoded by PHOX2B or LBX1 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 PCO2. The dysfunctional neurons causing these respiratory disorders are largely unknown. Here, we show that distinct,...
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