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

The respiratory rhythm is generated by the preBötzinger complex in the medulla oblongata, and is modulated by neurons in the retrotrapezoid nucleus (RTN), which are essential for accelerating respiration in response to high CO(2). Here we identify a LBX1 frameshift (LBX1(FS)) mutation in patients wi...

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Detalles Bibliográficos
Autores principales: Hernandez-Miranda, Luis Rodrigo, Ibrahim, Daniel M., Ruffault, Pierre-Louis, Larrosa, Madeleine, Balueva, Kira, Müller, Thomas, de Weerd, Willemien, Stolte-Dijkstra, Irene, Hostra, Robert M. W., Brunet, Jean-François, Fortin, Gilles, Mundlos, Stefan, Birchmeier, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304989/
https://www.ncbi.nlm.nih.gov/pubmed/30487221
http://dx.doi.org/10.1073/pnas.1813520115

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