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Article

Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice

28 Nov 2018

Abstract excerpt

Significance Maintaining low CO 2 levels in our bodies is critical for life and depends on neurons that generate the respiratory rhythm and monitor tissue gas levels. Inadequate response to increasing levels of CO 2 is common in congenital hypoventilation diseases. Here, we identified a mutation in LBX1 , a homeodomain transcription factor, that causes congenital hypoventilation in humans. The mutation alters the...

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PMID: 30487221
DOI: 10.1073/pnas.1813520115

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